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1.
Reumatol Clin (Engl Ed) ; 20(6): 291-296, 2024.
Article in English | MEDLINE | ID: mdl-38991822

ABSTRACT

OBJECTIVES: A subset of gout patients developed persistent joint pain after flares. Analysis of this clinical phenomenon may shed further light on the factors related to worsening gout and even provide clues to its pathogenesis. METHODS: We analyzed the clinical, laboratory, and ultrasound data of gout patients to explore the associations of these data with persistent joint pain after gout flares. RESULTS: A total of 1029 gout patients were included: 182 (17.7%) patients with persistent joint pain and 847 (82.3%) patients with nonpersistent joint pain. Patients with persistent joint pain had more total involved joints, more gout flares in the past year, and more joints with simultaneous gout flares (P<0.01). Among the ultrasound-detected lesions, patients with persistent joint pain had a higher incidence of tophus (36.4% vs. 21.1%) and bone erosion (18.6% vs. 8.6%) (P<0.05). Higher UA and lower TBil were found in patients with persistent joint pain (P<0.001). Hypertension (54.9% vs. 38.7%) and metabolic syndrome (58.8% vs. 46.4%) were both more frequent in patients with persistent joint pain (P<0.05). TBil was negatively correlated with the incidence of persistent joint pain (P<0.001, r=-0.190), UA values (P<0.001, r=-0.125), and metabolic syndrome scores (P<0.001, r=-0.192). A correlation curve was fitted using LOESS (locally weighted region). CONCLUSION: Persistent joint pain after gout flares is a marker of increased disease burden in gout. The significance of the level of total bilirubin for the exacerbation of gout deserves further study.


Subject(s)
Arthralgia , Gout , Symptom Flare Up , Humans , Gout/complications , Male , Female , Middle Aged , Arthralgia/etiology , Aged , Adult , Retrospective Studies , Ultrasonography
2.
Semergen ; 50(5): 102176, 2024.
Article in Spanish | MEDLINE | ID: mdl-38301402

ABSTRACT

Gout is a disease caused by the chronic deposition of monosodium urate crystals. Its clinical presentation as an acute, self-limiting arthritis and the belief that it is a banal, self-inflicted disease have led to its poor management. Despite advances in the knowledge of the disease and the simplicity of its management, no more than 30% of patients are well treated. In Spain, the prevalence of gout is 2.5% and its incidence is increasing. In the following article we will review the pathogenesis of gout and hyperuricaemia, highlighting the greater weight of genetics and renal function over diet. We will look at the consequences of crystal deposition. Gout, in addition to its joint presentation and renal involvement, has been shown to be an independent cardiovascular risk factor. Hypouricemic therapy is the most important treatment, as it is the one that dissolves the crystals and cures the disease. This requires the sustained achievement of uricemia levels below 6mg/dl. We will also review preventive and flares treatment, as well as the role of patient education in terms of both lifestyle and dietary habits and adherence to pharmacological treatment.


Subject(s)
Gout , Hyperuricemia , Humans , Gout/therapy , Gout/diagnosis , Hyperuricemia/therapy , Hyperuricemia/diagnosis , Hyperuricemia/etiology , Uric Acid/blood , Uric Acid/metabolism , Spain , Patient Education as Topic , Life Style , Gout Suppressants/therapeutic use , Prevalence , Diet , Risk Factors , Incidence , Medication Adherence , Cardiovascular Diseases/prevention & control , Cardiovascular Diseases/etiology , Cardiovascular Diseases/therapy
3.
Gac. méd. Méx ; 159(6): 517-526, nov.-dic. 2023. tab, graf
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1557787

ABSTRACT

Resumen Antecedentes: Los trastornos musculoesqueléticos (TME) afectan a 1710 millones de personas en todo el mundo y es la principal causa de discapacidad. Objetivo: Analizar los años vividos con discapacidad (AVD) por TME en México entre 1990 y 2021. Material y métodos: Con las estimaciones del estudio de la Carga Global de la Enfermedad 2021 se analizaron los AVD por TME y sus seis categorías: osteoartritis, artritis reumatoide, gota, dolor cervical, lumbalgia y otros TME. Se evaluaron patrones y tendencias del número, tasa cruda y tasa estandarizada por edad de los AVD a nivel nacional, estatal, por grupos de edad y sexo. Resultados: Los TME constituyeron la principal causa de AVD en México entre 1990 y 2021, con un incremento de 57.3 %; pasaron de 1458.4 a 2293.7 por 100 000 habitantes. La lumbalgia (840.6 AVD) destacó con la mayor tasa en 2021 y la osteoartritis, con el mayor incremento. Los TME se incrementaron con la edad y, con excepción de la gota, afectaron más a las mujeres. Conclusiones: De 1990 a 2021, los TME constituyeron la principal causa de AVD en México, con mayor impacto en adultos y mujeres. Los TME se evidencian desde edades tempranas, de ahí la necesidad de intervenciones continuas para preservar la calidad de vida.


Abstract Background: Musculoskeletal disorders (MSD) affect 1.71 billion people worldwide and are the leading cause of disability. Objective: To analyze the years lived with disability (YLD) attributed to MSD in Mexico between 1990 and 2021. Material and methods: With estimates from the Global Burden of Disease 2021 study, the YLDs due to MSD and their six categories were analyzed, including osteoarthritis, rheumatoid arthritis, gout, neck pain, low back pain, as well as other MSDs. Patterns and trends in the number, crude rate, and YLD age-standardized rate were evaluated at the national and state levels, as well as by age group and gender. Results: MSDs were the main cause of YLDs in Mexico between 1990 and 2021, with an increase of 57.3%, going from 1,458.4 to 2,293.7 per 100,000 population. Low back pain (840.6 YLD) showed the highest rate in 2021, while osteoarthritis had the largest increase. MSDs increased with age and, and except for gout, affected women more often. Conclusions: From 1990 to 2021, MSDs were the main cause of YLDs in Mexico, with a higher impact on adults and women. MSDs can appear early in life, hence the need for continuous interventions in order to preserve quality of life.

4.
Rev Med Inst Mex Seguro Soc ; 61(6): 895-899, 2023 Nov 06.
Article in Spanish | MEDLINE | ID: mdl-37995660

ABSTRACT

Background: Gout is known as arthropathy due to the deposit of monosodium urate crystals; This pathology comprises a set of clinical and radiographic tests in the context of the intra-articular presence of said crystals. It is a chronic disease associated with other comorbidities such as arterial hypertension, osteoarthritis, diabetes mellitus, etc. The case of a patient with gouty arthritis with consequent hip lesion with a pseudotumoral appearance difficult to diagnose is presented, in order to highlight the importance of this, as well as the appropriate follow-up and treatment for this chronic pathology. Clinical case: A 51-year-old male patient, with a history of hip osteoarthritis and gout. The symptoms and signs were pain in the right hip with an 8/10 on an analogue pain scale, associated with functional limitation characterized by reduced range of motion and impossibility of standing. Imaging studies are carried out which are suggestive of a tumor lesion at the proximal femur with malignant characteristics, for which a biopsy and subsequent histopathological diagnosis of gouty tophi is performed. Conclusions: Gout is a prevalent disease in the adult population, however, its infrequent joint location can result in a difficult diagnosis, so it is necessary not to rule out this entity and to carry out specific studies for its identification.


Introducción: se conoce como gota a la artropatía por depósito de cristales de urato monosódico. Esta patología comprende un conjunto de hallazgos clínicos y radiográficos en el contexto de presencia intraarticular de dichos cristales. Es una enfermedad crónica asociada a otras comorbilidades como: hipertensión arterial, osteoartrosis, diabetes mellitus, etc. Se presenta el caso de un paciente con artritis gotosa con consecuente lesión en cadera, con aspecto pseudotumoral de difícil diagnóstico, a fin de resaltar su importancia, así como el seguimiento y tratamiento oportunos para esta patología crónica. Caso clínico: paciente hombre de 51 años, con antecedentes de artritis gotosa; quien cursa con cuadro clínico de, aproximadamente, cuatro años de evolución, caracterizado por dolor en cadera derecha de intensidad 8/10 en escala análoga del dolor, sin irradiación, asociado a limitación funcional caracterizada por reducción de arcos de movilidad e imposibilidad para la bipedestación. Se realizan estudios imagenológicos los cuales son sugestivos de lesión tumoral a nivel de fémur proximal de características de malignidad, por lo cual se realiza biopsia y posterior diagnóstico histopatológico de tofos gotosos. Conclusiones: la gota es una enfermedad prevalente en la población adulta, sin embargo, la localización articular infrecuente puede resultar en un difícil diagnóstico, por lo que se requiere no descartar esta entidad y la realización de estudios específicos para su identificación.


Subject(s)
Arthritis, Gouty , Gout , Hip Injuries , Male , Adult , Humans , Middle Aged , Gout/complications , Gout/diagnosis , Gout/drug therapy , Arthritis, Gouty/complications , Arthritis, Gouty/diagnosis , Arthritis, Gouty/drug therapy
5.
Arq. gastroenterol ; 60(3): 339-344, July-Sept. 2023. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1513698

ABSTRACT

ABSTRACT Background: Colorectal cancer is the third most common type of cancer in both men and women and ranks second as the most common cause of cancer death in the United States. Classic risk factors include tobacco smoking, high alcohol consumption, physical inactivity and excess body weight. A prospective study found that an elevated serum uric acid was associated with higher rates of cancer-associated polyps. Interestingly, other studies found an association between elevated levels of serum uric acid and other types of cancer including colorectal cancer. Objective: Our study aimed to evaluate whether patients with chronic tophaceous gout had an increased risk of developing colorectal cancer. Methods: A validated multicenter and research platform database of more than 360 hospitals from 26 different healthcare systems across the United States was utilized to construct this study. Patients aged 18 years and above were included. Individuals who have had a history of familial adenomatous polyposis, a family history of colon cancer, and those diagnosed with inflammatory bowel disease were excluded from the analysis. The risk of developing colon cancer was calculated using a multivariate regression analysis to account for potential confounders. Results: 80,927,194 individuals were screened in the database and 70,177,200 were selected in the final analysis after accounting for inclusion and exclusion criteria. Type 2 diabetics (28.57%), smokers (10.98%), obese individuals (18.71%), alcoholics (3.13%), and patients who have had a diagnosis of chronic tophaceous gout were more common in the colon cancer group compared to those without the malignancy. Using multivariate regression analysis, risk of colon cancer was calculated for male gender (OR: 1.02; 95%CI: 1.01-1.03), smokers (OR: 1.54; 95%CI: 1.52-1.56), alcoholics (OR: 1.40; 95%CI: 1.37-1.43), obese patients (OR: 1.52; 95%CI: 1.50-1.54), type 2 diabetic individuals (OR: 3.53; 95%CI: 3.50-3.57), and those who have had a diagnosis of chronic tophaceous gout (OR: 1.40; 95%CI: 2.48-3.23). Conclusion: As expected, patients with colon cancer were found to have a higher prevalence in males, obese, tobacco and alcohol users. We also demonstrated that patients with gout have a significantly higher prevalence of CRC than those who do not before and after adjusting for metabolic risk factors. In fact, uric acid was found to induce production of reactive oxygen species, thus potentially promoting tumorigenesis. It would be interesting to assess the prevalence of colon cancer in patients with gout who have a serum uric acid that is less than 7 mg/dL. This might promote a tighter control of serum uric acid levels in this population in order to decrease the risk of colon cancer.


RESUMO Contexto: O câncer colorretal é o terceiro tipo mais comum de câncer em homens e mulheres e ocupa o segundo lugar como a causa mais comum de morte por câncer nos EUA. Os fatores de risco clássicos incluem tabagismo, alto consumo de álcool, inatividade física e excesso de peso corporal. Um estudo prospectivo descobriu que um ácido úrico sérico elevado estava associado a taxas mais altas de pólipos associados ao câncer. Curiosamente, outros estudos encontraram uma associação entre níveis elevados de ácido úrico sérico e outros tipos de câncer, incluindo o câncer colorretal. Objetivo: Nosso estudo teve como objetivo avaliar se os pacientes com gota tofácea crônica tinham um risco aumentado de desenvolver câncer colorretal. Métodos: Utilizou-se um banco de dados validado multicêntrico e de plataforma de pesquisa de mais de 360 hospitais de 26 diferentes sistemas de saúde nos Estados Unidos para a construção deste estudo. Foram incluídos pacientes com 18 anos ou mais. Indivíduos com histórico de polipose adenomatosa familiar, histórico familiar de câncer de cólon e aqueles diagnosticados com doença inflamatória intestinal foram excluídos da análise. O risco de desenvolver câncer de cólon foi calculado usando uma análise de regressão multivariada para contabilizar possíveis confusões. Resultados: 80.927.194 indivíduos foram rastreados no banco de dados e 70.177.200 foram selecionados na análise final após considerar critérios de inclusão e exclusão. Diabéticos tipo 2 (28,57%), fumantes (10,98%), indivíduos obesos (18,71%), alcoólatras (3,13%) e pacientes que tiveram diagnóstico de gota tofácea crônica foram mais comuns no grupo de câncer de cólon em comparação com aqueles sem a malignidade. Usando a análise de regressão multivariada, o risco de câncer de cólon foi calculado para o sexo masculino (OR: 1,02; IC95%: 1,01-1,03), fumantes (OR: 1,54; IC95%: 1,52-1,56), alcoólatras (OR: 1,40; IC95%: 1,37-1,43), pacientes obesos (OR: 1,52; IC95%: 1,50-1,54), indivíduos diabéticos tipo 2 (OR: 3,53; IC95%: 3,50-3,57), e aqueles que tiveram diagnóstico de gota tofácea crônica (OR: 1,40; IC95%: 2,48-3,23). Conclusão: Como esperado, os pacientes com câncer de cólon foram encontrados com maior prevalência em homens, obesos, usuários de tabaco e álcool. Demonstramos também que os pacientes com gota têm uma prevalência significativamente maior de câncer colorretal do que aqueles que não a têm, antes e após o ajuste para fatores de risco metabólicos. De fato, descobriu-se que o ácido úrico induz a produção de espécies reativas de oxigênio, promovendo assim potencialmente a tumorigênese. Seria interessante avaliar a prevalência de câncer de cólon em pacientes com gota que têm um ácido úrico sérico inferior a 7 mg/dL. Isso poderia promover um controle mais rígido dos níveis de ácido úrico sérico nesta população para diminuir o risco de câncer de cólon.

6.
Nefrología (Madrid) ; 43(2): 204-212, mar.-abr. 2023. graf, tab
Article in English | IBECS | ID: ibc-218129

ABSTRACT

Background: Nuclear receptor binding protein 1 (NRBP1) and ATP-binding cassette subfamily G member 2 (ABCG2) was the gout risk gene and high-capacity urate exporter respectively. However, the relationship between NRBP1 and ABCG2 and the underlying molecular mechanism contributing to these associations are unknown. Methods: Firstly, the efficiency of the overexpression and knockdown of NRBP1 was confirmed by western blot. Next, the effect of NRBP1 overexpression and knockdown on the expression of ABCG2, organic anion transporter 1 (OAT1), glucose transporter 9 (GLUT9) and urate transporter 1 (URAT1) was detected by qRT-PCR and western blot. At the same time, the cellular location of ABCG2 and its expression after NRBP1 overexpression and knockdown was tested by immunofluorescence (IF) staining. Then, the mechanism of NRBP1 modulates ABCG2 expression was evaluated by western blot with or without the β-catenin inhibitor (21H7). Results: The lentivirus system was used to generate stable NRBP1 overexpression, while the plasmids carrying a NRBP1 siRNA was generated to knockdown NRBP1 expression in HK-2 cells. Meanwhile, the overexpression of NRBP1 significantly decreased the mRNAs and proteins expression of GLUT9 and URAT1, while the knockdown of NRBP1 increased the mRNAs and proteins expression of ABCG2 significantly. In addition, the NRBP1 modulates the expression of ABCG2 was by ctivating the Wnt/β-catenin pathway in HK-2 cells according to the IF and western blot results. Conclusion: Taken together, our study demonstrated that NRBP1 inhibition played an essential role in attenuating hyperuricemia and gout by upregulation of ABCG2 via Wnt/β-catenin signaling pathway in HK-2 cells. (AU)


Antecedentes: La proteína de unión al receptor nuclear 1 (NRBP1) y el miembro G de la subclase ATP binding Box 2 (ABCG2) son los genes de riesgo de gota y los genes de salida de urato de alto rendimiento, respectivamente. Sin embargo, se desconoce la relación entre NRBP1 y ABCG2, y los posibles mecanismos moleculares que conducen a estas asociaciones. Métodos: En primer lugar, la sobreexpresión y el knockout de NRBP1 fueron confirmados por Western-blot. Los efectos de la sobreexpresión y knockout de NRBP1 en la expresión de ABCG2, transportador de aniones orgánicos 1 (OAT1), transportador de glucosa 9 (GLUT9) y transportador de ácido úrico 1 (URAT1) fueron detectados por qRT-PCR y Western-blot. Mientras tanto, la localización y expresión de ABCG2 después de la sobreexpresión y knockout de NRBP1 fueron detectadas por inmunofluorescencia (IF). Luego, el efecto regulador de NRBP1 sobre la expresión de ABCG2 fue estudiado por Western-blot y comparado con el inhibidor de la β-catenina (21H7). Resultados: El sistema lentiviral indujo una sobreexpresión estable de NRBP1, mientras que el plásmido portador de SiRNA NRBP1 inhibió la expresión de NRBP1 en las células HK-2. Mientras tanto, la sobreexpresión de NRBP1 redujo significativamente la expresión de ARNm y proteínas de GLUT9 y URAT1, mientras que el knockout de NRBP1 aumentó significativamente la expresión de ARNm y proteínas de ABCG2. Además, de acuerdo con los resultados de IF y Western-blot, NRBP1 regula la expresión de ABCG2 activando la vía Wnt/β-catenina en las células HK-2. Conclusión: La inhibición del NRBP1 aumenta la regulación de ABCG2 a través de la vía de señalización Wnt/β-catenina, que desempeña un papel importante en la reducción de la hiperuricemia y la gota. (AU)


Subject(s)
Humans , Uric Acid , Nuclear Receptor Interacting Protein 1 , ATP Binding Cassette Transporter, Subfamily G, Member 5 , China , Gout , beta Catenin
7.
Reumatol. clín. (Barc.) ; 19(3): 150-158, Mar. 2023. tab
Article in Spanish | IBECS | ID: ibc-217290

ABSTRACT

Objetivo: Comprender las experiencias de personas con gota sobre sus causas y desencadenantes, tratamientos y medidas terapéuticas recomendadas e impacto de vivir con este problema. Sujetos y métodos: Estudio cualitativo descriptivo. Muestreo opinático, buscando variabilidad discursiva según género, edad, posición socioeconómica y tratamientos. Se hicieron 3 grupos focales con 11, 6 y 7 personas, siguiendo un guion de temas preestablecido. Análisis siguiendo procedimientos del análisis de contenido temático. Resultados: Participaron 19 varones y 5 mujeres de diferentes edades, posición socioeconómica y tratamientos. Comorbilidades frecuentes: hipertensión e hipercolesterolemia. Como causas de gota mencionaron la genética y la falta de eliminación renal del urato. Refirieron escaso conocimiento de las causas, y necesitar más explicaciones sobre las mismas. Como desencadenantes del ataque identificaron: excesos alimentarios y/o enólicos, traumatismos, estrés o no seguir el tratamiento. Enumeraron diversos tratamientos farmacológicos y expresaron preocupación por sus posibles efectos adversos. Destacaron dificultades de adherencia a las recomendaciones. También describieron medidas no farmacológicas: descanso, frío, calzado adecuado, andar, beber agua y dieta. La gota crónica tiene un impacto importante en la vida diaria de pacientes y familiares. El dolor invalida y comporta dificultades para realizar actividades cotidianas. Refirieron sentirse irritables y con cambios de humor, que repercuten en sus relaciones familiares. Conclusiones: Estos hallazgos aportan propuestas para mejorar la atención de las personas con gota. Se recomienda mejorar la información sobre sus causas, los desencadenantes de la crisis, las recomendaciones alimentarias y el ejercicio. Las causas tras la variabilidad de recomendaciones sobre tratamientos y hábitos de vida deberían analizarse en profundidad.(AU)


Objective: To delve into the experiences of people living with gout regarding its causes and triggers, recommended treatments and therapeutic measures, and the impact of living with this problem. Subjects and methods: Descriptive qualitative study. Opinion sampling, looking for discursive variability according to sex, age, socioeconomic position and treatments. Three focus groups were made with 11, 6 and 7 people, following a pre-established script of topics. Analysis following thematic content analysis procedures. Results: Participants were 19 men and 5 women, of different ages, socioeconomic status and treatments. Frequent comorbidities: hypertension and hypercholesterolemia. Genetics and the lack of renal elimination of urate were mentioned as causes of gout. They reported little knowledge of the causes and need more explanations about them. As triggers of the attack they identified: excess food and / or alcohol, trauma, stress or not following the treatment. Various drug treatment and expressed concern about their possible adverse effects were listed. Difficulties in adherence to the recommendations were also described. Non-pharmacological measures: rest, cold, proper footwear, walking, drinking water, and diet were also described. Chronic gout has an important impact on the daily life of patients and their families. Pain invalidates and leads to difficulties in performing daily activities. Irritations and mood swings were reported, which affect their family relationships. Conclusions: These findings provide proposals to improve the care of people with gout. Information on its causes, the triggers of the crisis, dietary recommendations and exercise should be improved. The variability of treatments and recommendations on lifestyle should be analysed in depth.(AU)


Subject(s)
Humans , Male , Female , Focus Groups , Gout , Comorbidity , Clinical Evolution , Epidemiology, Descriptive , Qualitative Research
8.
Reumatol Clin (Engl Ed) ; 19(3): 150-158, 2023 Mar.
Article in English | MEDLINE | ID: mdl-36058814

ABSTRACT

OBJECTIVE: To delve into the experiences of people living with gout regarding its causes and triggers, recommended treatments and therapeutic measures, and the impact of living with this problem. SUBJECTS AND METHODS: Descriptive qualitative study. Opinion sampling, looking for discursive variability according to sex, age, socioeconomic position and treatments. Three focus groups were made with 11, 6 and 7 people, following a pre-established script of topics. Analysis following thematic content analysis procedures. RESULTS: Participants were 19 men and 5 women, of different ages, socioeconomic status and treatments. Frequent comorbidities: hypertension and hypercholesterolemia. Genetics and the lack of renal elimination of urate were mentioned as causes of gout. They reported little knowledge of the causes and need more explanations about them. As triggers of the attack they identified: excess food and/or alcohol, trauma, stress or not following the treatment. Various drug treatment and expressed concern about their possible adverse effects were listed. Difficulties in adherence to the recommendations were also described. Non-pharmacological measures: rest, cold, proper footwear, walking, drinking water, and diet were also described. Chronic gout has an important impact on the daily life of patients and their families. Pain invalidates and leads to difficulties in performing daily activities. Irritations and mood swings were reported, which affect their family relationships. CONCLUSIONS: These findings provide proposals to improve the care of people with gout. Information on its causes, the triggers of the crisis, dietary recommendations and exercise should be improved. The variability of treatments and recommendations on lifestyle should be analysed in depth.


Subject(s)
Gout , Male , Humans , Female , Focus Groups , Gout/drug therapy , Qualitative Research , Uric Acid , Exercise
9.
Nefrologia (Engl Ed) ; 43(2): 204-212, 2023.
Article in English | MEDLINE | ID: mdl-36437206

ABSTRACT

BACKGROUND: Nuclear receptor binding protein 1 (NRBP1) and ATP-binding cassette subfamily G member 2 (ABCG2) was the gout risk gene and high-capacity urate exporter respectively. However, the relationship between NRBP1 and ABCG2 and the underlying molecular mechanism contributing to these associations are unknown. METHODS: Firstly, the efficiency of the overexpression and knockdown of NRBP1 was confirmed by western blot. Next, the effect of NRBP1 overexpression and knockdown on the expression of ABCG2, organic anion transporter 1 (OAT1), glucose transporter 9 (GLUT9) and urate transporter 1 (URAT1) was detected by qRT-PCR and western blot. At the same time, the cellular location of ABCG2 and its expression after NRBP1 overexpression and knockdown was tested by immunofluorescence (IF) staining. Then, the mechanism of NRBP1 modulates ABCG2 expression was evaluated by western blot with or without the ß-catenin inhibitor (21H7). RESULTS: The lentivirus system was used to generate stable NRBP1 overexpression, while the plasmids carrying a NRBP1 siRNA was generated to knockdown NRBP1 expression in HK-2 cells. Meanwhile, the overexpression of NRBP1 significantly decreased the mRNAs and proteins expression of GLUT9 and URAT1, while the knockdown of NRBP1 increased the mRNAs and proteins expression of ABCG2 significantly. In addition, the NRBP1 modulates the expression of ABCG2 was by ctivating the Wnt/ß-catenin pathway in HK-2 cells according to the IF and western blot results. CONCLUSION: Taken together, our study demonstrated that NRBP1 inhibition played an essential role in attenuating hyperuricemia and gout by upregulation of ABCG2 via Wnt/ß-catenin signaling pathway in HK-2 cells.

10.
Gac Med Mex ; 159(6): 502-511, 2023.
Article in English | MEDLINE | ID: mdl-38386887

ABSTRACT

BACKGROUND: Musculoskeletal disorders (MSD) affect 1.71 billion people worldwide and are the leading cause of disability. OBJECTIVE: To analyze the years lived with disability (YLD) attributed to MSD in Mexico between 1990 and 2021. MATERIAL AND METHODS: With estimates from the Global Burden of Disease 2021 study, the YLDs due to MSD and their six categories were analyzed, including osteoarthritis, rheumatoid arthritis, gout, neck pain, low back pain, as well as other MSDs. Patterns and trends in the number, crude rate, and YLD age-standardized rate were evaluated at the national and state levels, as well as by age group and gender. RESULTS: MSDs were the main cause of YLDs in Mexico between 1990 and 2021, with an increase of 57.3%, going from 1,458.4 to 2,293.7 per 100,000 population. Low back pain (840.6 YLD) showed the highest rate in 2021, while osteoarthritis had the largest increase. MSDs increased with age and, and except for gout, affected women more often. CONCLUSIONS: From 1990 to 2021, MSDs were the main cause of YLDs in Mexico, with a higher impact on adults and women. MSDs can appear early in life, hence the need for continuous interventions in order to preserve quality of life.


ANTECEDENTES: Los trastornos musculoesqueléticos (TME) afectan a 1710 millones de personas en todo el mundo y es la principal causa de discapacidad. OBJETIVO: Analizar los años vividos con discapacidad (AVD) por TME en México entre 1990 y 2021. MATERIAL Y MÉTODOS: Con las estimaciones del estudio de la Carga Global de la Enfermedad 2021 se analizaron los AVD por TME y sus seis categorías: osteoartritis, artritis reumatoide, gota, dolor cervical, lumbalgia y otros TME. Se evaluaron patrones y tendencias del número, tasa cruda y tasa estandarizada por edad de los AVD a nivel nacional, estatal, por grupos de edad y sexo. RESULTADOS: Los TME constituyeron la principal causa de AVD en México entre 1990 y 2021, con un incremento de 57.3 %; pasaron de 1458.4 a 2293.7 por 100 000 habitantes. La lumbalgia (840.6 AVD) destacó con la mayor tasa en 2021 y la osteoartritis, con el mayor incremento. Los TME se incrementaron con la edad y, con excepción de la gota, afectaron más a las mujeres. CONCLUSIONES: De 1990 a 2021, los TME constituyeron la principal causa de AVD en México, con mayor impacto en adultos y mujeres. Los TME se evidencian desde edades tempranas, de ahí la necesidad de intervenciones continuas para preservar la calidad de vida.


Subject(s)
Gout , Low Back Pain , Musculoskeletal Diseases , Osteoarthritis , Adult , Female , Humans , Low Back Pain/epidemiology , Mexico/epidemiology , Quality of Life , Musculoskeletal Diseases/epidemiology , Osteoarthritis/epidemiology
11.
Dynamis (Granada) ; 43(1): 159-184, 2023.
Article in Spanish | IBECS | ID: ibc-227332

ABSTRACT

En los últimos años se ha abordado el estudio de distintas prescripciones y consejos dietéticos en lenguas vernáculas de personajes vinculados a las élites castellanas, catalanas y navarras, datados entre la segunda mitad del siglo XV y finales del XVI. Uno de los personajes estudiados es el clérigo Juan Rena, veneciano de origen, que desde principios del siglo XVI ocupó puestos de responsabilidad en la administración castellana. Nombrado capellán de la reina Juana I de Castilla en 1508, fue Rena la ‘mano derecha’ de Fernando II de Aragón en la restructuración administrativa del reino de Navarra tras su conquista en 1512. Entre la nume-rosa documentación relacionada con su persona se han localizado dos textos para tratar la gota, basado en un ingrediente procedente del Nuevo Mundo, el palosanto o guayaco, en un periodo relativamente temprano. (AU)


Subject(s)
Humans , History, 16th Century , Gout/drug therapy , Gout/therapy , Guaiac/therapeutic use , Herbal Medicine/history , Herbal Medicine/methods , Spain , History of Medicine
12.
Reumatol. clín. (Barc.) ; 18(10): 608-613, dic. 2022. tab, graf
Article in Spanish | IBECS | ID: ibc-211897

ABSTRACT

Introducción: La gota es una artritis cristalina que se asocia con pérdida importante de calidad de vida. Un tratamiento por objetivos y un seguimiento proactivo permiten obtener mejores desenlaces clínicos. La enfermería especializada en reumatología optimiza el seguimiento en pacientes con gota y la adherencia al tratamiento, pudiendo mejorar la calidad percibida de estos enfermos en relación con la atención sanitaria. Objetivo: Determinar los factores que afectan a la calidad percibida y a la satisfacción de los enfermos con gota atendidos en consultas de reumatología e identificar áreas de mejora, así como explorar la influencia de enfermería en la atención y el seguimiento de estos pacientes. Metodología Estudio observacional transversal en pacientes con gota seguidos en una consulta monográfica mediante encuesta anónima basada en el modelo de calidad SERVQUAL, con datos demográficos y preguntas sobre aspectos asistenciales. Resultados: Se recogieron 71 encuestas cumplimentadas de las 80 entregadas entre agosto de 2019 y enero de 2020. La mayoría de los participantes fueron varones de más de 45años. El 39% se mostraron satisfechos con la atención recibida, y el 55% muy satisfechos. Todos los encuestados se mostraron satisfechos con la consulta presencial conjunta con enfermería especializada en reumatología, y el 66% consideraron buena la consulta telefónica con el enfermero. Se identificaron posibles áreas de mejora (tiempo de derivación a consulta, identificación y disponibilidad del personal sanitario). Conclusión: Encontramos una alta satisfacción global percibida por los pacientes atendidos en consulta de gota con enfermería especializada en reumatología. Conocer y sistematizar la opinión de los pacientes es esencial para mejorar la atención ofrecida.(AU)


Introduction: Gout is a crystal arthropathy that is associated with significant loss of quality of life. A treat-to-target approach and proactive monitoring yield superior outcomes to standard care. The Clinical Nurse Specialist enhances follow-up and adherence to treatment in patients with gout, improving their perceived healthcare quality. Objective: To determine the factors that affect the perceived quality and satisfaction of patients with gout treated in a rheumatology clinic and to identify areas for improvement, as well as to explore the influence of nurses’ work in the care and management of these patients. Methods: Cross-sectional observational study in patients with gout monitored in a monographic clinic by anonymous survey based on the SERVQUAL quality model, with demographic data and questions about aspects of care. Results: 71 completed surveys were collected from the 80 delivered between August 2019 and January 2020. Most of the participants were males over 45years of age. A total of 39% were satisfied with the care received, and 55% were very satisfied. All the respondents were satisfied with the face-to-face consultation with the Clinical Nurse Specialist and 66% considered the telephone consultation with the nurse to be good. Possible areas for improvement (referral time to consultation, identification, and availability of health providers) were identified. Conclusion: We found high overall satisfaction perceived by the patients attended in a gout consultation with the Clinical Nurse Specialist. Understanding and systematizing the patients’ opinion is essential to improve clinical care.(AU)


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Gout , Patients , Nurse Specialists , Quality of Life , Crystal Arthropathies , Cross-Sectional Studies , Rheumatology , Rheumatic Diseases , Surveys and Questionnaires
13.
Nefrologia (Engl Ed) ; 42(3): 273-279, 2022.
Article in English | MEDLINE | ID: mdl-36210617

ABSTRACT

Gout is recurrent inflammatory arthritis caused by the deposition of monosodium urate crystals in the joints. The risk factors that predispose to suffering from gout include non-modifiable factors such as gender, age, ethnicity and genetics, and modifiable factors such as diet and lifestyle. It has been shown that the heritability of uric acid levels in the blood is greater than 30%, which indicates that genetics play a key role in these levels. Hyperuricaemia is often a consequence of reduced renal urate excretion since more than 70% is excreted by the kidneys, mainly through the proximal tubule. The mechanisms that explain that hyperuricaemia associated with reduced renal urate excretion is, to a large extent, a proximal renal tubular disorder, have begun to be understood following the identification of two genes that encode the URAT1 and GLUT9 transporters. When they are carriers of loss-of-function mutations, they explain the two known variants of renal tubular hypouricaemia. Some polymorphisms in these genes may have an opposite gain-of-function effect, with a consequent increase in urate reabsorption. Conversely, loss-of-function polymorphisms in other genes that encode transporters involved in urate excretion (ABCG2, ABCC4) can lead to hyperuricaemia. Genome-wide association study (GWAS) methods have made it possible to locate new gout-related loci associated with reduced renal urate excretion (NIPAL1, FAM35A).


Subject(s)
Gout , Hyperuricemia , Kidney Diseases , Genome-Wide Association Study , Gout/genetics , Humans , Hyperuricemia/genetics , Kidney Diseases/complications , Nephrologists , Renal Elimination , Uric Acid
14.
Rev. cuba. reumatol ; 24(3)sept. 2022.
Article in Spanish | LILACS, CUMED | ID: biblio-1530163

ABSTRACT

La gota es una enfermedad reumática inflamatoria que se debe al depósito de cristales de urato monosódico en las articulaciones. En su evolución clínica se distingues dos formas: la fase aguda caracterizada por un proceso inflamatorio monoarticular agudo de gran sensibilidad, y la fase crónica o de mantenimiento, cuyo elemento fundamental es la acumulación de cristales de urato monosódico llamados tofos gotosos. Estos se presentan con mayor frecuencia en el dorso de los dedos, a nivel articular y en el pabellón auricular. Se presenta el caso de un paciente masculino, de 47 años, con diagnóstico de gota de 5 años de evolución y con tratamiento irregular. Este paciente presentó tofos gotosos en localizaciones infrecuentes que limitaron su capacidad funcional. Este caso demuestra la necesidad de un diagnóstico oportuno y una adecuada adherencia al tratamiento, por lo que se considera importante para la comunidad médica, especialmente los profesionales de la salud que atienden a pacientes con artropatía gotosa(AU)´


Gout is a rheumatic, inflammatory disease that is generated by the deposition of monosodium urate crystals at the joint level. Two forms can be distinguished in its clinical evolution: the acute phase characterized by an acute monoarticular inflammatory process of great sensitivity, and the chronic or maintenance phase where the fundamental element is the presence of accumulations of monosodium urate crystals called gouty tophi. These occur more frequently on the back of the fingers, at the joint level and in the auricle. This paper presents the case of a 47-year-old male patient, diagnosed with gout for 5 years and with irregular treatment, who presented gouty tophi in infrequent locations that limit the patient's functional capacity. The case is presented considering it important for the medical community; especially health professionals caring for patients with gouty arthropathy(AU)´

15.
Rev. peru. med. exp. salud publica ; 39(3): 302-311, jul.-sep. 2022. tab, graf
Article in Spanish | LILACS, LIPECS | ID: biblio-1410008

ABSTRACT

RESUMEN Objetivos. Evaluar la exactitud de gota gruesa (GG) frente a la reacción en cadena de la polimerasa (PCR) cuantitativa para la malaria asociada al embarazo (MAE). Materiales y métodos. Se realizó una revisión sistemática de pruebas diagnósticas en nueve bases de datos. Se evaluó la calidad metodológica con QUADAS. Se estimó sensibilidad, especificidad, cociente de probabilidad positivo (CPP) y negativo (CPN), razón de odds diagnóstica (ORD) y área bajo la curva ROC. Se determinó la heterogeneidad con el estadístico Q de Der Simonian-Laird y la incertidumbre con el porcentaje de peso de cada estudio sobre el resultado global. Resultados. Se incluyeron diez estudios con 5691 gestantes, 1415 placentas y 84 neonatos. En los estudios con nPCR (PCR anidada) y qPCR (PCR cuantitativa) como estándar, los resultados de exactitud diagnóstica fueron estadísticamente similares, con sensibilidad muy baja (50 y 54%, respectivamente), alta especificidad (99% en ambos casos), alto CPP y deficiente CPN. Usando nPCR la OR diagnóstica fue 162 (IC95%=66-401) y el área bajo la curva ROC fue 95%, mientras que con qPCR fueron 231 (IC95%=27-1951) y 78%, respectivamente. Conclusiones. Mediante un protocolo exhaustivo se demostró el bajo desarrollo de investigaciones sobre la exactitud diagnóstica de la GG en MAE. Se demostró que la microscopía tiene un desempeño deficiente para el diagnóstico de infecciones asintomáticas o de baja parasitemia, lo que afianza la importancia de implementar otro tipo de técnicas en el seguimiento y control de las infecciones por malaria en las gestantes, con el fin de lograr el control y posible eliminación de la MAE.


ABSTRACT Objective. To evaluate the accuracy of thick smear (TS) versus quantitative polymerase chain reaction (PCR) for pregnancy-associated malaria (PAM). Materials and methods. We carried out a systematic review of diagnostic tests in nine databases. Methodological quality was evaluated with QUADAS. Sensitivity, specificity, positive likelihood ratio (PLR), negative likelihood ratio (NLR), diagnostic odds ratio (DOR) and area under the ROC curve were estimated. Heterogeneity was determined with the Der Simonian-Laird Q method and uncertainty with the weighted percentage of each study on the overall result. Results. We included 10 studies with 5691 pregnant women, 1415 placentas and 84 neonates. In the studies with nested PCR (nPCR) and quantitative PCR (qPCR) as the standard, the diagnostic accuracy results were statistically similar, with very low sensitivity (50 and 54%, respectively), high specificity (99% in both cases), high PLR and poor NLR. When nPCR was used, the DOR was 162 (95%CI=66-401) and the area under the ROC curve was 95%, while with qPCR it was 231 (95%CI=27-1951) and 78%, respectively. Conclusions. We demonstrated that research on the diagnostic accuracy of TS in PAM is limited. Microscopy showed poor performance in the diagnosis of asymptomatic or low parasitemia infections, which reinforces the importance of implementing other types of techniques for the follow-up and control of malaria infections in pregnant women, in order to achieve the control and possible elimination of PAM.


Subject(s)
Humans , Female , Pregnancy , Infant, Newborn , Polymerase Chain Reaction/standards , Pregnancy Complications, Parasitic/diagnosis , Diagnostic Techniques and Procedures/standards , Malaria/diagnosis , Placenta/parasitology , Meta-Analysis as Topic , Sensitivity and Specificity , Pregnancy Complications, Parasitic/parasitology
16.
Rev. cient. (Guatem.) ; 31(1)20220908.
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1392528

ABSTRACT

La gota es el trastorno del metabolismo de las purinas que se caracteriza por acumulación de ácido úrico por aumento de su producción o por disminución de su excreción. Con el paso del tiempo, el exceso de urato monosódico permite que se deposite en diferentes tejidos del organismo; siendo particularmente infrecuente la presentación de tofos a nivel facial. Paciente masculino adulto de 56 años, con antecedente de gota hace 38 años y presencia de tofos gotosos a nivel de miembros superiores e inferiores que acude por cuadro de 4 años de evolución de lesión indurada, levemente dolorosa a nivel de tercio medio de dorso nasal que ha ido aumentando de tamaño, que causa deformidad de pirámide nasal y leve sensación de obstrucción nasal bilateral por lo que se planifica resolución quirúrgica. El análisis histopatológico de las muestras enviadas bajo exéresis quirúrgica confirma que tejido enviado corresponde a tofo gotoso. Los tofos gotosos pueden aparecer en diferentes tejidos, como cartílagos, membranas y líquido sinovial, superficies articulares, siendo excepcionalmente raro, en el miocardio, válvulas mitral y aórtica, ojos, nariz y médula espinal. El lugar de presentación puede ser muy variable, al igual que su tamaño


Gout is a purine metabolism disorder characterized by accumulation of uric acid due to increased production or decreased excretion. Over time, excess monosodium urate allows it to be accumulated in different body tissues, although the occurrence in the facial area is particularly infrequent. A 56- year-old male patient with a gout antecedent from 38 years ago that presented gouty tophi at the level of the upper and lower limbs seek medical advice due to an indurated slightly painful lesion at the level of the middle third of the nasal dorsum that started 4 years before and has been increasing in size. The lesion was causing nasal pyramid deformity and a slight sensation of bilateral nasal obstruction, for which surgical resolution is planned. The histopathological analysis of the samples sent under surgical exeresis confirms that the tissue sample corresponds to gouty tophi. Gouty tophi can appear in different tissues, such as cartilage, membranes and synovial fluid, joint surfaces, being exceptionally rare in the myocardium, mitral and aortic valves, eyes, nose and spinal cord. The place of presentation can be very variable, as well as its size

17.
Med. clín (Ed. impr.) ; 158(12): 615-621, junio 2022. ilus
Article in Spanish | IBECS | ID: ibc-204691

ABSTRACT

En las 2décadas de este siglo, se ha desarrollado un amplio conocimiento sobre la gota. Hemos definido la enfermedad, los estados y las situaciones clínicas y cambiado su nomenclatura, así como asentado el concepto de enfermedad por depósito «curable» o «remisible».Conocemos ya su alta prevalencia en España y los factores asociados a la enfermedad, la genética que condiciona mayoritariamente la predisposición a la hiperuricemia y la estructura y las funciones del complejo transportoma implicado en el manejo renal e intestinal del ácido úrico.Las técnicas de imagen han aportado nuevos medios al diagnóstico. Hemos establecido las distintas dianas terapéuticas según la carga de enfermedad y las dianas de prevención secundaria, y aprendido a emplear mejor los medicamentos disponibles, a optimizar su prescripción y a prevenir los acontecimientos adversos.Finalmente, hemos comprendido como mejorar la adherencia, educar e implicar a los pacientes en su tratamiento y a no culpabilizarlos. (AU)


A considerable improvement in the knowledge of gout has taken place in the 2decades of the XXIth century. Definitions of disease, estate, and clinical situations, along with a new nomenclature, have been agreed. More importantly, the concept of gout as a “curable” or “controllable” disease has been settled.We know for the first time its prevalence in Spain. Factors associated to disease, the genetics that condition the predisposition to develop hyperuricemia and the structure and functions of the transportome complex that control the renal and intestinal handling of urate have been examined.Imaging techniques have come to support diagnosis. Different primary therapeutic targets have been defined depending on the burden of disease, and targets for secondary prevention considered. We know how to best prescribe available medications and prevent the risk of adverse events.Finally, we have understood the importance of adherence, education, and empower patients during treatment instead of blaming them. (AU)


Subject(s)
Humans , Gout/diagnosis , Gout/epidemiology , Gout/therapy , Hyperuricemia/diagnosis , Uric Acid , Kidney , Spain/epidemiology
18.
Reumatol. clín. (Barc.) ; 18(5): 279-285, May 2022. tab, graf
Article in Spanish | IBECS | ID: ibc-204824

ABSTRACT

Objetivos: La osteoporosis causa gran morbilidad y mortalidad por el desarrollo de fracturas por fragilidad, entre ellas las vertebrales. Los pacientes con gota podrían mostrar un incremento de riesgo de fracturas osteoporóticas debido a una mayor resorción ósea por un estado inflamatorio producido por los cristales de urato. El objetivo de este estudio fue evaluar el riesgo de fracturas vertebrales dorsales osteoporóticas asociado a padecer gota. Métodos: Estudio transversal realizado con pacientes ingresados por evento cardiovascular. Se seleccionaron pacientes con radiografía torácica lateral reciente al ingreso o en los seis meses previos, que fueron revisadas de forma simultánea por dos observadores desconocedores de los datos clínicos. Se definió fractura vertebral como reducción de la altura vertebral ≥20%, registrando su presencia, número y grado mediante la escala semicuantitativa de Genant. Para analizar la relación entre gota y fractura vertebral, se calculó la odds ratio (OR) con intervalo de confianza al 95% (IC 95%) mediante regresión logística múltiple. Resultados: Seleccionamos 126 pacientes, de los que 21 (16,67%) padecían gota. Se detectaron 18 casos con fracturas, siendo la prevalencia 14,3%. Se encontró una asociación estadísticamente significativa entre gota y fractura vertebral (28,6% gota, 11,4% no gota; OR 3,10, IC 95% 1,01-9,52). No hubo mayor número de fracturas por grupos, y la severidad fue superior en los controles. La asociación entre gota y fractura vertebral persistió tras ajuste multivariante (OR 5,21, IC 95% 1,32-20,61). Conclusión: Se ha identificado una asociación independiente entre gota y fracturas vertebrales dorsales radiográficas en pacientes con evento cardiovascular.(AU)


Objectives: Osteoporosis causes significant morbidity and mortality by the development of fragility fractures, including vertebral fractures. Patients with gout may show an increased risk of osteoporotic fractures, as accelerated bone resorption is likely linked to urate crystal-led inflammatory state. This study aims to evaluate the risk of osteoporotic dorsal vertebral fractures associated with gout. Methods: Cross-sectional study carried out in patients admitted for cardiovascular events. Patients with available lateral view of chest radiography (on admission or in the previous six months) were selected. Two observers blinded to clinical data reviewed the radiographies simultaneously. Vertebral fracture was defined as a vertebral height loss ≥20%, and presence, number, and severity (by Genant semi-quantitative scale) were registered. To analyse the relationship between gout and the presence of vertebral fractures, the odds ratio (OR) with 95% confidence interval (95%CI) was calculated by multiple logistic regression. Results: 126 patients were analysed, 21 of them (16.67%) suffered from gout. Eighteen cases with fractures were detected, with a prevalence of 14.3%. A significant association was found between gout and vertebral fracture (28.6% gout, 11.4% controls; OR 3.10, 95%CI 1.01-9.52). There were no differences in the number of fractures, while the severity was found to be higher in the controls. The association between gout and vertebral fracture persisted after multivariate adjustment (OR 5.21, 95% CI 1.32-20.61). Conclusion: An independent association between gout and radiological thoracic vertebral fractures was revealed in patients with a cardiovascular event.(AU)


Subject(s)
Humans , Male , Female , Spinal Fractures/prevention & control , Osteoarthritis, Spine , Gout , Fractures, Bone , Osteogenesis Imperfecta , Radiography, Thoracic , Case-Control Studies , Cross-Sectional Studies , Rheumatology
19.
Nefrología (Madrid) ; 42(3): 1-7, Mayo-Junio, 2022. graf
Article in Spanish | IBECS | ID: ibc-205765

ABSTRACT

La gota es una artritis inflamatoria recurrente provocada por el depósito de cristales de urato monosódico en las articulaciones. Entre los factores de riesgo que predisponen a padecer gota se encuentran aquellos no modificables como sexo, edad, raza y genética y los modificables como dieta y estilo de vida. Se ha indicado que la heredabilidad de los niveles de ácido úrico en sangre es superior al 30%, lo que indica que la genética tiene un papel clave en dichos niveles.La hiperuricemia es a menudo una consecuencia de la reducción de la excreción renal de urato, ya que más del 70% se excreta por el riñón, principalmente, por el túbulo proximal.Los mecanismos que explican que la hiperuricemia asociada a la reducción de la excreción renal de urato es, en gran medida, una tubulopatía proximal, se han empezado a conocer al saberse la existencia de dos genes que codifican los transportadores URAT1 y GLUT9 que, cuando son portadores de mutaciones de pérdida de función, explican las dos variantes conocidas de hipouricemia tubular renal.Algunos polimorfismos presentes en esos genes pueden tener un efecto contrario de ganancia de función, con la consecuencia de un incremento en la reabsorción de urato. A la inversa, polimorfismos de pérdida de función en otros genes que codifican trasportadores implicados en la excreción de urato (ABCG2, ABCC4) favorecen la hiperuricemia.Los métodos de asociación genómica amplia (GWAS) han permitido localizar nuevos locus relacionados con gota asociada a reducción de la excreción renal de urato (NIPAL1, FAM35A). (AU)


Gout is recurrent inflammatory arthritis caused by the deposition of monosodium urate crystals in the joints. The risk factors that predispose to suffering from gout include non-modifiable factors such as gender, age, ethnicity and genetics, and modifiable factors such as diet and lifestyle. It has been shown that the heritability of uric acid levels in the blood is greater than 30%, which indicates that genetics play a key role in these levels.Hyperuricaemia is often a consequence of reduced renal urate excretion since more than 70% is excreted by the kidneys, mainly through the proximal tubule.The mechanisms that explain that hyperuricaemia associated with reduced renal urate excretion is, to a large extent, a proximal renal tubular disorder, have begun to be understood following the identification of two genes that encode the URAT1 and GLUT9 transporters. When they are carriers of loss-of-function mutations, they explain the two known variants of renal tubular hypouricaemia.Some polymorphisms in these genes may have an opposite gain-of-function effect, with a consequent increase in urate reabsorption. Conversely, loss-of-function polymorphisms in other genes that encode transporters involved in urate excretion (ABCG2, ABCC4) can lead to hyperuricaemia.Genome-wide association study (GWAS) methods have made it possible to locate new gout-related loci associated with reduced renal urate excretion (NIPAL1, FAM35A). (AU)


Subject(s)
Humans , Nephrology , Gout/diagnosis , Gout/therapy , Uric Acid , Kidney Tubules , Review Literature as Topic
20.
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1390289

ABSTRACT

RESUMEN Se presenta caso de varón con poliartritis crónica por depósito de uratos


ABSTRACT We presents a case of a man with chronic polyarthritis due to urate deposition.

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