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2.
Rev. argent. reumatolg. (En línea) ; 32(4): 28-37, dic. 2021. ilus, tab
Article in Spanish | LILACS, BINACIS | ID: biblio-1376441

ABSTRACT

Se comunica una serie de tres casos clínicos que consultaron al servicio de Reumatología por compromiso orbitario y renal. Uno de ellos presentó pseudotumor orbitario con proteinuria en rango nefrótico; se realizó biopsia y se encontró infiltrado linfoplasmocitario denso y fibrosis estoriforme con inmunohistoquímica: 15 células IgG4+ por campo de alto poder y relación IgG/IgG4 ≤40%, concluyendo diagnóstico de enfermedad relacionada por IgG4. El segundo y tercer caso presentaron compromiso ocular con "ojos de mapache" y lesiones amarillentas en párpados, ambos con proteinuria >500 mg/24 h, con biopsia de piel rojo Congo positiva y birrefringencia verde manzana con luz polarizada. Se discuten distintos diagnósticos diferenciales poco frecuentes a tener en cuenta en estos pacientes.


A series of three cases that consulted the rheumatology service due to orbital and renal involvement is reported. One of them presented orbital pseudotumor with proteinuria in the nephrotic range, a biopsy was performed, finding dense lymphoplasmacytic infiltrate and storiform fibrosis with immunohistochemistry: 15 IgG4 positive cells per HPF and IgG/IgG4 ratio ≤40%, concluding diagnosis of IgG4 related disease. The second and third cases presented ocular involvement with raccoon eyes and yellowish lesions on the eyelids, both with proteinuria greater than 500 mg/24 h, with apple-green birefringence of amyloid on congo red staining. Different rare differential diagnoses to take into account in these patients are discussed.


Subject(s)
Humans , Female , Adult , Middle Aged , Young Adult , Orbital Diseases/diagnosis , Skin Diseases/diagnosis , Immunoglobulin G4-Related Disease/diagnosis , Amyloidosis/diagnosis , Kidney Diseases/diagnosis , Arthritis, Rheumatoid/diagnosis , Arthritis, Rheumatoid/drug therapy , Sarcoidosis/diagnosis , Skin Diseases/pathology , Skin Diseases/drug therapy , Diagnosis, Differential , Immunoglobulin G4-Related Disease/pathology , Immunoglobulin G4-Related Disease/drug therapy , Amyloidosis/pathology , Amyloidosis/drug therapy , Kidney Diseases/pathology , Kidney Diseases/drug therapy
3.
J. health med. sci. (Print) ; 7(4): 265-270, oct.-dic. 2021. ilus, tab
Article in Spanish | LILACS | ID: biblio-1396061

ABSTRACT

Demostrar la correlación entre las ecuaciones MDRD, CKD-EPI con la depuración de creatinina de 24 horas en pacientes oncológicos. Estudio transversal realizado en el Instituto Oncológico Nacional Dr Juan Tanca Marengo durante el periodo de tiempo comprendido entre el mes de agosto 2019 a agosto de 2020. Al evaluar las distintas variable MDRD obtuvo un valor promedio de 44,81 ml/min/m2 con un intervalo de 41,07 ­ 48,55 ml/min/m2 , la variable CKD-EPI el valor promedio fue 43,59 + 18,09 ml/min/m2 con un intervalo de 40,01 ­ 47,18 ml/min/m2 , para el estándar de referencia depuración de creatinina de 24 horas el promedio fue de 54ml/min/m2 Al evaluar la relación entre los dos estimadores de TFG se encontró que ambos presentan una fiabilidad regular presentando una correlación intraclase de 0,43 (p<0,05) entre los estimadores CKD-EPI y MDRD en relación con la TFG de creatinina de 24horas. Cuando se evaluó pacientes con tumores sólidos y hematológicos, se encontró una mayor correlación intraclase con la escala MDRD-4 0,60 (0,25 ­ 0,82) < 0,05 en tumores hematológicos en comparación con CKD-EPI. En la población general, CKD-EPI es la fórmula recomendada, y se está recomendado con mayor frecuencia en pacientes oncológicos. Nuestro estudio demostró que la ecuación MDRD es la fórmula que mejor se correlaciona con la depuración de creatinina de 24 horas, siendo mejor en el grupo de tumores hematológicos, pero no existe diferencia estadísticamente significativa entre las dos ecuaciones.


To demonstrate the correlation between the MDRD, CKD-EPI equations with the 24-hour creatinine clearance in cancer patients. Cross-sectional study carried out at the National Oncological Institute Dr Juan Tanca Marengo during the period of time between the month of August 2019 to August 2020. When evaluating the different MDRD variables, an average value of 44.81 ml / min / m2 was obtained with an interval of 41.07 ­ 48.55 ml / min / m2, the CKD-EPI variable the average value was 43.59 + 18 , 09 ml / min / m2 with an interval of 40.01 ­ 47.18 ml / min / m2, for the reference standard creatinine clearance of 24 hours the average was 54 ml / min / m2 When evaluating the relationship between the two estimators of GFR, it was found that both present a regular reliability, presenting an intraclass correlation of 0.43 (p <0.05) between the CKD-EPI and MDRD estimators in relation to the 24-hour creatinine GFR. When patients with solid and hematological tumors were evaluated, a higher intraclass correlation was found with the MDRD-4 scale 0.60 (0.25 ­ 0.82) <0.05 in hematological tumors compared to CKD-EPI. In the general population, CKD-EPI is the recommended formulation, and it is more frequently recommended in cancer patients. Our study showed that the MDRD equation is the formula that best correlates with 24-hour creatinine clearance, being better in the group of hematological tumors, but there is no statistically significant difference between the two equations.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Aged , Creatinine/urine , Glomerular Filtration Rate , Kidney Diseases/diagnosis , Neoplasms/physiopathology , Cross-Sectional Studies , Age Distribution , Kidney Diseases/physiopathology , Kidney Function Tests/methods
4.
Rev. chil. obstet. ginecol. (En línea) ; 86(4): 390-396, ago. 2021. ilus, tab
Article in Spanish | LILACS | ID: biblio-1388675

ABSTRACT

INTRODUCCIÓN: Las anomalías congénitas de los riñones y las vías urinarias (CAKUT, Congenital Anomalies of the Kidney and Urinary Tract) representan un 20-30% de las anomalías detectadas en el periodo prenatal. Si bien la mayoría son de buen pronóstico, un 25% se asocian a enfermedad renal crónica en la infancia y en los casos graves a mortalidad perinatal. OBJETIVO: Describir los casos ingresados al Centro de Referencia Perinatal Oriente (CERPO) y determinar los resultados perinatales y la sobrevida al año. MÉTODO: Estudio descriptivo y retrospectivo. Se incluyeron pacientes ingresadas en la base de datos CERPO, entre los años 2003 y 2019, con diagnóstico de anomalía nefrourológica. Se incluyeron antecedentes prenatales, perinatales y de seguimiento posnatal al año. RESULTADOS: Se evaluaron 273 pacientes. La edad gestacional promedio de derivación fue de 29 semanas + 2 días. El diagnóstico más frecuente fueron las anomalías del tracto de salida (69%). Un 40% de los casos se asociaron a otras anomalías congénitas, siendo las cardiopatías las más frecuentes (19%). Aceptaron la realización de estudio genético invasivo 38 pacientes, de las cuales un 34% presentaron aneuploidías, siendo las trisomías 18 y 13 las más frecuentes (17% y 6%, respectivamente). Se instalaron cinco shunts derivativos vesicoamnióticos en fetos diagnosticados con megavejiga. La sobrevida global para la patología nefrourológica fue del 63% al año, y la mortalidad fetal y neonatal fue del 7% y el 16%, respectivamente. La sobrevida al año según el grupo de clasificación CAKUT fue del 22% para las anomalías de número de riñones, del 46% para las anomalías de tamaño y de morfología renal, del 60% para las anomalías de la posición renal y del 72% para las anomalías del tracto de salida. En este último grupo, la sobrevida alcanza el 81% al excluir los pacientes con diagnóstico prenatal de megavejiga, que presentaron una sobrevida al año del 28%. Los casos de patología nefrourológica asociada a oligohidramnios (índice de líquido amniótico < 5 cm) sin evidencias de uropatía obstructiva asociada presentaron una sobrevida al año del 3%. CONCLUSIONES: Las anomalías del sistema nefrourológico son un diagnóstico prenatal frecuente. La sobrevida al año fue del 63%, pero es necesario prolongar el seguimiento a largo plazo para determinar la evolución de la función renal en cada diagnóstico. La asociación de patología nefrourológica y oligohidramnios conlleva una sobrevida menor.


INTRODUCTION: Congenital anomalies of the kidneys and urinary tract (CAKUT) represent 20 to 30% of the anomalies detected prenatally. Although most are of good prognosis, 25% are associated with chronic kidney disease in childhood and severe cases with perinatal mortality. OBJECTIVE: To describe the cases studied in the Eastern Perinatal Referral Center (CERPO) and to determine the perinatal outcome and survival at one year. METHOD: Descriptive and retrospective study. Patients registered on the CERPO database, between 2003 to 2019, with diagnosis of nephrourological anomaly were included. Antenatal, perinatal and postnatal follow-up information was collected. RESULTS: 273 patients were evaluated. The average gestational age at referral was 29 + 2 weeks. The main diagnosis was urinary tract outlet disorders (69%). Thirty nine percent of the cases were associated with other congenital anomalies, with heart disease being the most frequent (19%). Thirty-eight patients accepted an invasive procedure for genetic study, 34% presented aneuploidy, trisomy 18 and 13 were the most frequent (17% and 6% respectively). Five vesico-amniotic derivative shunts were installed in fetuses diagnosed with megabladder. Overall survival at one year was 63% and fetal and neonatal mortality were 7% and 16% respectively. One-year survival per group according to CAKUT classification was 22% in kidney number abnormalities, 46% in kidney size and morphology abnormalities, 60% in renal position abnormalities and 72% in outflow tract abnormalities. In the latter, survival reaches 81% excluding the patients with prenatal diagnosis of megabladder who had a one-year survival of 28%. The cases of nephrourological pathology associated with oligohydramnios (amniotic fluid index < 5 cm) without evidence of associated obstructive uropathy presented a survival of 3% at one year. CONCLUSIONS: The anomalies of the nephrourological system correspond to a frequent prenatal diagnosis. Overall, the one-year survival was 63%; however, follow-up must continue to determine the evolution of renal function in relation to each diagnosis.


Subject(s)
Humans , Female , Pregnancy , Prenatal Diagnosis , Urogenital Abnormalities/diagnosis , Kidney/abnormalities , Prognosis , Urogenital Abnormalities/classification , Urologic Diseases/diagnosis , Chile , Retrospective Studies , Chromosome Aberrations , Kidney Diseases/diagnosis
5.
Rev. méd. Hosp. José Carrasco Arteaga ; 13(1): 27-32, 15/03/2021. Tablas
Article in Spanish | LILACS | ID: biblio-1293075

ABSTRACT

INTRODUCCIÓN: La litiasis renal es la tercera patología urológica más frecuente, después de las infecciones y la patología prostática. Una de las opciones de tratamiento es la litotripsia extracorpórea por ondas de choque (LEOCH); se trata de una técnica mínimamente invasiva, de fácil repetición, efectiva, de baja morbilidad y bajo costo. El objetivo del presente estudio fue mostrar la eficacia de la LEOCH en el tratamiento de litiasis renal y su asociación con diferentes factores. MATERIALES Y MÉTODOS: Se realizó un estudio descriptivo, observacional, de corte transversal, con datos retrospectivos, con pacientes diagnosticados de litiasis renal, que recibieron tratamiento con LEOCH en el Servicio de Endourología del Hospital José Carrasco Arteaga, durante los años 2015 y 2016. La muestra fue de 146 pacientes. La información se obtuvo de las historias clínicas de los pacientes. Para el análisis, se empleó el programa SPSS v19.0. Los resultados se mostraron a través de frecuencias y porcentajes en tablas, se aplicó Chi cuadrado para medir la asociación entre las variables. RESULTADOS: La ubicación de los litos fue principalmente intrarenal y del lado izquierdo. El tamaño medio de los cálculos fue de 12.66 mm y la densidad media de 996.97UI. Al control tomográfico posterior a la LEOCH, en el 22.6% de los pacientes se destruyó totalmente el lito y en casi un tercio de los pacientes no se apreciaron cambios. Luego de la LEOCH, la mayoría de los pacientes recibieron tratamiento expulsivo. 97% de los pacientes no tuvieron complicaciones. CONCLUSIÓN: La efectividad de la LEOCH disminuyó con la edad, en las mujeres resultó igualmente menos eficaz, aunque las diferencias no fueron significativas. La ubicación del lito, así como su tamaño resultaron tener asociación estadísticamente significativa con la efectividad del tratamiento; los litos ureterales y pequeños se destruyeron completamente con mayor frecuencia que los renales y de gran tamaño. La densidad no mostró relación significativa con la efectividad de la LEOCH.


BACKGROUND: nephrolithiasis is the third most common urological pathology, followed by infections and prostatic pathologies. One of the treatment options is extracorporeal shock wave therapy (ESWT); it is a minimally invasive technique, easy to repeat, effective, with low morbidity and low cost. The aim of this study was to demonstrate the effectiveness of ESWT as a treatment for nephrolithiasis and its association with some factors. METHODS: We carried out a descriptive, observational, cross-sectional study with retrospective data, with patients diagnosed of nephrolithiasis and treated with ESWT at the Endourology Service of Hospital José Carrasco Arteaga, during the years 2015 and 2016. The sample was constituted of 146 patients. Data was Results are shown with frequencies and percentages in charts, Chi square was applied to measure the association between variables. RESULTS: The location of the stones was mainly intrarenal and on the left side. The mean size of the stones was 12.66 mm and the mean density was 996.97IU. After ESWT, tomographic control reported complete destruction of the stone in 22.6% of the patients and in almost a third of the patients there were no changes. After ESWL, most of the patients received expulsive treatment. 97% of the patients had no complications. CONCLUSION: The effectiveness of ESWL decreased with age, also it was less effective in women, but the association was not statistically significant. The location of the stone, and its size had statistically significant association with the effectiveness of the treatment; ureteral and small stones were completely destroyed more frequently than renal and big stones. The stone density had no association with LEOCH effectiveness.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Aged , Effectiveness , Lithotripsy , Lithotripsy/methods , Nephrolithiasis , Extracorporeal Shockwave Therapy , Kidney Diseases/diagnosis , Pathology , Cross-Sectional Studies , Low Cost Technology
6.
Rev. ANACEM (Impresa) ; 15(1): 33-39, 2021. tab, graf
Article in Spanish | LILACS | ID: biblio-1281420

ABSTRACT

INTRODUCCIÓN: El cólico renal es una condición médica común en los servicios de urgencia. Representa la manifestación clínica más frecuente de urolitiasis, cuya patogenia es multifactorial, con tasas de prevalencia varía de 1% a 20% y una recurrencia a 10 años del 42% al 50%. OBJETIVO: Establecer el perfil clínico-epidemiológico, como también el diagnóstico y manejo de los pacientes hospitalizados por cólico renal en el Hospital Clínico Herminda Martín (HCHCM). MATERIAL Y MÉTODO: Estudio descriptivo retrospectivo en pacientes hospitalizados con diagnóstico de cólico renal en el HCHM de Chillán en el período marzo 2014-marzo 2019. Se estudiaron las variables: sexo, edad, presentación clínica de ingreso, factores de riesgo asociados, motivo de hospitalización, resultados imagenológicos y manejo clínico. Resultados. El 52,45% correspondió a pacientes de sexo masculino, encontrándose la mayor cantidad de pacientes en el intervalo de 40-49 años. La obesidad, antecedente de urolitiasis e hipertensión arterial fueron las patologías asociadas más frecuentes. En la mayoría de los pacientes, el motivo de la hospitalización fue la refractariedad al tratamiento analgésico, alcanzando un 86,76%. El 56,37% de los pacientes recibió manejo médico expulsivo y a un 19,11% de los pacientes se le realizó una intervención quirúrgica durante la hospitalización. CONCLUSIÓN: El perfil de éstos pacientes no sólo permite establecer medidas que podrían evitar un evento litiásico, sino que además se demuestra la necesidad de realizar un manejo óptimo que puede evitar reconsultas, sobrecarga de los servicios de urgencia, aumento de días cama y complicaciones.


INTRODUCTION: Renal colic is a common condition in the emergency department. It represents the most frequent clinical manifestation of urolithiasis, whose prevalence rate varies between 1% to 20%. Its pathogenesis is multifactorial, with a recurrence of 10 years from 42-50%. OBJECTIVE: Establish the clinical-epidemiological profile, as well as the diagnosis and management of patients hospitalized for renal colic at the Herminda Martín Clinical Hospital(HCHM). MATERIALS AND METHODS: A retrospective descriptive study of hospitalized patients diagnosed with renal colic at the HCHM, March 2014-March 2019, the variables were studied: sex, age, the clinical presentation of admission, associated risk factors, the reason for hospitalization, imaging results, and management. Results: 52.45% were male patients, with the highest number of patients in the range of 40-49 years. Obesity, a history of urolithiasis and hypertension, occurred more frequently within the associated pathologies. In most patients, refractable to analgesic treatment was the reason for hospitalization, reaching 86.76%. 56.37% of patients received expulsion medical management, and 19.11% of patientshad surgeryduring hospitalization. CONCLUSION: The profile of these patients not only allows them to establish measures that could prevent a lithiasis event but also shows the need for effective management of patients who can avoid reconsults, an overload of emergency services, increasedbed days and complications


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Renal Colic/diagnosis , Hospitalization , Kidney Diseases/diagnosis , Epidemiology, Descriptive , Retrospective Studies , Emergency Service, Hospital/statistics & numerical data , Renal Colic/surgery , Renal Colic/epidemiology , Renal Colic/diagnostic imaging
8.
Pesqui. vet. bras ; 40(12): 1002-1009, Dec. 2020. tab, ilus
Article in English | LILACS, VETINDEX | ID: biblio-1155035

ABSTRACT

Chronic kidney disease (CKD) is characterized by irreversible morphostructural lesions that can progressively evolve to chronic renal insufficiency and kidney failure. It is known that the heart and kidneys are closely related, and that communication between these organs occurs through a variety of pathways; subtle physiological changes in one of them are compensated by the other. Histopathological cardiac evaluation through routine staining presents a limitation to identify specific or discreet lesions in the cardiomyocytes. This study aimed to evaluate serum troponin levels in cats with CKD, associated with clinical and pathological findings, as well as to correlate the morphostructural cardiac lesions to determine their distribution through macroscopic and histological assessments and anti-cardiac troponin C (cTnC) immunohistochemistry (IHC). To this end, 20 cats (18 diagnosed with CKD and two controls) were selected. Anti-human cTnC IHC was conducted after necropsy and separation in eight regions of each collected heart. Heart fragments from two cats without CKD were used as controls. The anti-human cTnC antibody is useful in detecting cardiac lesions and has shown decreased expression in cardiomyocytes of cats with CKD. Serum troponin was above the reference values in 11/18 (61.11%) animals and decreased expression for the cTnC antibody was observed in individual cardiomyocytes in 9/18 (50%) animals. It was verified that the number of regions with decreased expression for the cTnC antibody in cardiomyocytes is significantly correlated with serum troponin. The anti-human cTnC antibody has been found effective in detecting cardiac lesions and has shown decreased expression in the cardiomyocytes of cats with CKD. Correlation was observed between increased serum cTnI and loss of immunoreactivity at anti-cTnC antibody IHC in cats with CKD, which proves damage to cardiomyocytes secondary to kidney disease.(AU)


A doença renal crônica (DRC) é caracterizada por lesões morfoestruturais irreversíveis, que podem evoluir progressivamente para insuficiência renal crônica e falência renal. Sabe-se que o coração e os rins mantêm estreita relação e a comunicação entre esses órgãos ocorre por uma variedade de vias; alterações fisiológicas sutis em um desses órgãos são compensadas pelo outro. A avaliação histopatológica cardíaca mediante a colorações rotineiras são limitadas para identificar lesões específicas ou discretas em cardiomiócitos. O presente trabalho teve como objetivos avaliar os níveis séricos de troponina em gatos com DRC, associados aos achados clínico-patológicos, bem como correlacionar as lesões cardíacas morfoestruturais, a fim de determinar a distribuição destas, por meio da avaliação macroscópica, histológica e imuno-histoquímica com anti-cTnC. Neste estudo foram selecionados 20 gatos (18 diagnosticados com DRC e 2 animais controle). Para a aplicação da técnica de imuno-histoquímica anti-troponina C humana, necropsias foram realizadas e cada coração coletado separadamente em 8 regiões. Fragmentos do coração de 2 gatos sem lesão cardíaca foram utilizados como controle. O anticorpo anti-TnC humano é útil na detecção de lesões cardíacas e apresentou expressão diminuída em cardiomiócitos de gatos com DRC. Em 11/18 animais (61,11%) a troponina sérica encontrava-se acima dos valores de referência e foram observadas diminuição da expressão para anticorpo-cTnC em cardiomiócitos individuais em 9/18 (50%). Notou-se que o número de regiões com diminuição da expressão para anticorpo-cTnC em cardiomiócitos está significativamente correlacionado com a troponina sérica. O anticorpo anti-TnC humano se mostrou eficaz para detectar lesões cardíacas e demonstrou diminuição da expressão nos cardiomiócitos de gatos com DRC. Houve correlação entre o aumento da CTnI sérica e perda da imunorretividade na avaliação imuno-histoquímica com anticorpo anti-TnC em gatos com DRC o que comprova danos em cardiomiócitos secundários a doença renal.(AU)


Subject(s)
Animals , Cats , Immunohistochemistry , Cats/injuries , Heart , Kidney , Kidney Diseases/diagnosis , Kidney Diseases/pathology , Troponin
9.
Rev. méd. Chile ; 148(8)ago. 2020.
Article in Spanish | LILACS | ID: biblio-1389302

ABSTRACT

Background: One of the devastating consequences of monoclonal gammopathies is the development of end-stage kidney disease, which can be prevented with an early diagnosis. Renal involvement can be secondary to saturation of paraproteins with intratubular precipitation or the glomerular deposition of paraproteins with secondary inflammation and destruction. These conditions can also be associated with monoclonal gammopathies that do not meet hematological treatment criteria, called monoclonal gammopathies of renal significance (MGRS). Aim: To report a retrospective analysis of patients who underwent a renal biopsy and whose final diagnosis was a form of monoclonal gammopathy. Material and Methods: We reviewed the clinical and laboratory features and response to treatment of 22 patients aged 63 ± 12 years (55% women) with a pathological diagnosis of a nephropathy associated with paraproteinemia. Results: The most common hematological diagnosis was amyloidosis in 50% of patients, followed by cast nephropathy. The predominant clinical presentations were proteinuria (without nephrotic syndrome) and nephritic syndrome. Classic criteria such as erythrocyte sedimentation rate > 100 mm/h and protein-albumin gap were unusual. Serum light chain quantification was the test with the best yield to detect paraproteins. Conclusions: In this group of patients, light chains tend to affect the kidney more commonly than heavy chains. The prognosis of multiple myeloma is much worse than MGRS.


Subject(s)
Aged , Female , Humans , Male , Middle Aged , Paraproteinemias , Kidney Diseases , Paraproteinemias/complications , Paraproteinemias/diagnosis , Paraproteins , Retrospective Studies , Kidney , Kidney Diseases/diagnosis , Kidney Diseases/etiology
10.
J. bras. nefrol ; 42(2): 219-230, Apr.-June 2020. tab, graf
Article in English, Portuguese | LILACS | ID: biblio-1134817

ABSTRACT

Abstract There are more than 150 different rare genetic kidney diseases. They can be classified according to diagnostic findings as (i) disorders of growth and structure, (ii) glomerular diseases, (iii) tubular, and (iv) metabolic diseases. In recent years, there has been a shift of paradigm in this field. Molecular testing has become more accessible, our understanding of the underlying pathophysiologic mechanisms of these diseases has evolved, and new therapeutic strategies have become more available. Therefore, the role of nephrologists has progressively shifted from a mere spectator to an active player, part of a multidisciplinary team in the diagnosis and treatment of these disorders. This article provides an overview of the recent advances in rare hereditary kidney disorders by discussing the genetic aspects, clinical manifestations, diagnostic, and therapeutic approaches of some of these disorders, named familial focal and segmental glomerulosclerosis, tuberous sclerosis complex, Fabry nephropathy, and MYH-9 related disorder.


Resumo As doenças renais genéticas raras compreendem mais de 150 desordens. Elas podem ser classificadas segundo achados diagnósticos como (i) distúrbios do crescimento e estrutura, (ii) doenças glomerulares, (iii) tubulares e (iv) metabólicas. Nos últimos anos, houve uma mudança de paradigma nesse campo. Os testes moleculares tornaram-se mais acessíveis, nossa compreensão sobre os mecanismos fisiopatológicos subjacentes a essas doenças evoluiu e novas estratégias terapêuticas foram propostas. Portanto, o papel do nefrologista mudou progressivamente de mero espectador a participante ativo, parte de uma equipe multidisciplinar, no diagnóstico e tratamento desses distúrbios. O presente artigo oferece um panorama geral dos recentes avanços a respeito dos distúrbios renais hereditários raros, discutindo aspectos genéticos, manifestações clínicas e abordagens diagnósticas e terapêuticas de alguns desses distúrbios, mais especificamente a glomeruloesclerose segmentar e focal familiar, complexo da esclerose tuberosa, nefropatia de Fabry e doença relacionada ao MYH9.


Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Child , Adult , Genetic Diseases, Inborn/genetics , Kidney/physiopathology , Kidney Diseases/congenital , Kidney Diseases/diagnosis , Thrombocytopenia/congenital , Thrombocytopenia/diagnosis , Thrombocytopenia/therapy , Tuberous Sclerosis/therapy , Genetic Testing/methods , Fabry Disease/diagnosis , Fabry Disease/genetics , Fabry Disease/therapy , Interdisciplinary Communication , Glomerular Filtration Rate/physiology , Hearing Loss, Sensorineural/diagnosis , Genetic Diseases, Inborn/diagnosis , Kidney Tubules/pathology , Metabolic Diseases/pathology , Nephrology/standards
11.
Rev. Col. méd. cir ; 159(1): 23-25, abr 2020. tab
Article in Spanish | LIGCSA, LILACS | ID: biblio-1247543

ABSTRACT

Objetivo: determinar la presencia de proteinuria en habitantes de una aldea de la región costera de Santa Rosa, Guatemala, julio del año 2019. Material y métodos: estudio descriptivo y transversal, en una muestra de 575 habitantes de la aldea Casas Viejas, captada por durante cuatro jornadas médicas. Las muestras de orina fueron analizadas con tiras reactivas. Resultados: de los habitantes que participaron, 55.48 % (319) fueron de sexo femenino, la mediana de edad fue de 24 años, el 39.820% (229) estudiante y el 85.2 % (490) sin antecedentes patológicos. De los factores predisponentes de enfermedad renal, el 56.170% (323) consume antiinflamatorios no esteroideo -AINES-, el 82.26 % (473) bebidas carbonatadas, el 13.570% (78) bebidas alcohólicas; la mediana de consumo de agua fue de 6 vasos diarios y 13.22 % (76) han estado expuestos a agroquímicos. Proteinuria se documentó en 8.87 % (51) de los habitantes. Conclusiones: más de la mitad de los sujeto de estudio son de sexo femenino y sin antecedentes patológicos; de los factores predisponentes a enfermedad renal los más frecuentes son el consumo de -AINES-, bebidas carbonatadas y la hidratación inadecuada. Nueve de cada cien sujetos de estudio presentan proteinuria.


Objetive: to establish urine protein presence in inhabitants of a small village of the coastal region in Santa Rosa, Guatemala. July 2019. Material y methods: Descriptive and transversal study performed on 575 persons from Casas Viejas village, using a nonprobabilistic sampling. Proteinuria was determined by urine test strips. Results: Of the persons studied, 55.48% (319) were female, mean age was 24 years old, 39.82% (229) were students and 85.25% had no pathological background. Predisposing factors of kidney disease were noted, 56.17% (323) consumed Non-steroidal Anti-inflammatory Drugs (NSAIDs), 82.26% (473) consumed carbonated drinks, 13.57% (78) alcoholic beverages, the mean water consumption was 6 glasses per day, and 13.22% (76), were exposed to agrochemical pesticides. Proteinuria was found in 8.87% (51) of the sample. Conclutions: more than half of population were female and didn´t showed pathological signs. Predisposing factors to kidney disease were, frequent NSAIDs use, carbonated drinks consumption a no adequate hydration. Nine of each one hundred people studied presented urine protein.


Subject(s)
Humans , Male , Female , Adolescent , Adult , Young Adult , Proteinuria/epidemiology , Pesticides/adverse effects , Proteinuria/diagnosis , Proteinuria/urine , Alcohol Drinking/adverse effects , Carbonated Beverages/adverse effects , Anti-Inflammatory Agents, Non-Steroidal/adverse effects , Prevalence , Cross-Sectional Studies , Risk Factors , Drinking , Guatemala/epidemiology , Kidney Diseases/diagnosis , Kidney Diseases/urine , Kidney Diseases/epidemiology
12.
Int. braz. j. urol ; 46(1): 15-25, Jan.-Feb. 2020. tab, graf
Article in English | LILACS | ID: biblio-1056363

ABSTRACT

ABSTRACT Sarcoidosis is a multisystem granulomatous disease characterized by epithelioid noncaseating granulomas associated with clinical and radiologic findings. The cause of this disease is still uncertain. Sarcoidosis affects mostly lungs and lymph nodes and is not usually considered a urological disease, therefore, this etiology may be overlooked in several urological disorders, such as hypercalcemia, hypercalciuria and nephrolithiasis. It affects all races and genders. This review aims to describe the urological manifestations of sarcoidosis and to elucidate how the disease may affect the management of numerous urological conditions.


Subject(s)
Humans , Sarcoidosis/pathology , Kidney Diseases/pathology , Sarcoidosis/diagnosis , Sarcoidosis/therapy , Biopsy , Chronic Disease , Hypercalciuria/diagnosis , Hypercalciuria/pathology , Hypercalcemia/diagnosis , Hypercalcemia/pathology , Kidney Diseases/diagnosis , Kidney Diseases/therapy
13.
Rev. chil. pediatr ; 91(1): 51-57, feb. 2020. tab, graf
Article in Spanish | LILACS | ID: biblio-1092787

ABSTRACT

Resumen: Introducción: La nefropatía falciforme (NF) es una complicación poco estudiada en la edad pediátrica, que se manifiesta en diferentes formas, incluyendo la glomerulopatía y la tubulopatía. Objetivo: Descri bir las complicaciones renales agudas y crónicas de niños con anemia de células falciformes (ACF). Pacientes y Método: Estudio de cohorte restrospectiva. Se incluyeron pacientes pediátricos con diagnóstico confirmado de enfermedad de células falciformes que tuvieran estudio nefro-urológico. Se consignó patrón electroforético de hemoglobina, presencia y tipo de afectación renal, y presencia de compromiso cardiológico. Se realizó análisis bivariado para comparar pacientes con y sin NF. Resultados: Se incluyeron 79 pacientes, 59.5% hombres, siendo el patrón electroforético más fre cuente Hb-SS (60.9%). La NF se presentó en el 70% de ellos, con una edad de 114 meses (RIQ 65-157). Las alteraciones más frecuentemente encontradas fueron hiperfiltración glomerular, mi croalbuminuria, lesión renal aguda, hipertensión arterial e hipostenuria. En el análisis bivariado, un ecocardiograma anormal fue más frecuente en los pacientes con NF (84,8% vs 54,3% p = 0,01), así como tuvieron una tendencia a mayor uso de medicamentos nefrotóxicos (74,5% vs 54,2% p = 0,07). Conclusiones: Nuestros hallazgos sugieren que la nefropatía falciforme puede presentarse a tempra na edad, siendo muy frecuente la hiperfiltración glomerular. Las complicaciones cardiopulmonares en ACF se podrían asociar con la presencia NF.


Abstract: Introduction: Sickle cell nephropathy (SCN) is a poorly studied complication of pediatric patients. It appears in different forms, including glomerulopathy, and tubulopathies. Objective: To describe acute and chronic renal complications in patients with sickle cell anemia (SCA). Patients and Method: Re trospective study. Pediatric patients with confirmed diagnosis of sickle cell disease were included who had a nephro-urology study. Hemoglobin electrophoresis pattern, presence and type of renal involvement, and presence of cardiac involvement were recorded. Bivariate analysis was perfor med to compare patients with and without SCN. Results: 79 patients were included, 59.5% of them were men, and the most frequent electrophoresis pattern was Hb-SS (60.9%). The SCN oc curred in 70% of patients with an average age of 114 months (RIQ 65-157). The most frequently observed alterations were glomerular hyperfiltration, microalbuminuria, acute kidney injury, ar terial hypertension, and hyposthenuria. In the bivariate analysis, an abnormal echocardiogram result was presented more frequently in patients with SCN (84.8% vs. 54.3% p = 0.01), as well as more frequent use of nephrotoxic drugs (74.5% vs. 54.2% p = 0.07). Conclusions: Our findings suggest that sickle cell nephropathy may occur at an early age, where glomerular hyperfiltration is very common. Cardiopulmonary complications in patients with SCA may be related to the presence of SCN.


Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Child , Adolescent , Anemia, Sickle Cell/complications , Kidney Diseases/diagnosis , Kidney Diseases/etiology , Acute Disease , Chronic Disease , Prevalence , Retrospective Studies , Risk Factors , Glomerular Filtration Rate , Kidney Diseases/physiopathology , Kidney Diseases/epidemiology
14.
Ann. afr. méd. (En ligne) ; 13(4): 3861-3866, 2020. tab
Article in French | AIM | ID: biblio-1259098

ABSTRACT

Contexte et objectif. L'ampleur réelle des néphropathies congénitales est peu connue en Afrique et notamment en Guinée. L'objectif de cette étude était de déterminer la fréquence des néphropathies congénitales rencontrées. Méthodes. Cette étude documentaire de type descriptif sur la néphropathie congénitale, a été conduite entre les 1er janvier 2007 et 30 juin 2012, dans les services de pédiatrie et de chirurgie pédiatrique de Donka. Les paramètres d'intêret englobaient les données épidémiologiques, cliniques et paracliniques. Résultats. Parmi les 34.448 dossiers colligés, 26 présentaient une néphropathie congénitale. Il s'agissait des néphroblastomes (n=17), des syndromes de jonction pyélo-urétérale (n=6), d'une hydronéphrose sur rein multikystique gauche (n=1), d'un rein multikystique en ptose (n=1) et d'une ectopie rénale (n=1). Le sexe masculin était prépondérant (21/26) avec un sexe ratio de 4,2/1. Les enfants de 29 jours à 2 ans étaient les plus touchés. Conclusion. Les néphropathies congénitales sont paraissent moins fréquentes dans cette institution hospitalière, à cause du manque d'un plateau technique diagnostique optimal. Le diagnostic précoce des néphropathies congénitales devrait être fait dans la période prénatale ce qui permettrait une meilleure prise en charge des enfants affectés


Subject(s)
Academic Medical Centers , Guinea , Kidney Diseases/diagnosis , Kidney Diseases/epidemiology , Multicystic Dysplastic Kidney , Wilms Tumor
15.
Rev. fac. cienc. méd. (Impr.) ; 16(2,n.esp): 58-65, jul.-dic. 2019.
Article in Spanish | LILACS, BIMENA | ID: biblio-1097318

ABSTRACT

La Nefropatía mesoamericana, entidad de reciente definición que se caracteriza por episodios de Insuficiencia Renal Aguda y alta incidencia de Enfermedad Renal Crónica de etiología desconocida. Objetivo:Proporcionar información actualizada sobre Nefropatía mesoamericana de interés para la salud pública. Materiales y métodos: Búsqueda PubMed© utilizando términos Mesoamerican and Nephropathy‖ totalizando 67 resúmenes, seleccionando los que incluyen los últimos avances y puntos de interés clínico-epidemiológico.Resultados: Se postulan teorías basadas en datos de múltiples estudios transversales que tienen implicaciones de importancia para la salud pública y la mitigación en la incidencia de casos, así como para el manejo clínico; a pesar de eso no parece estar a la vista la identificación de la etiología. Conclusión: La falta de definición objetiva de caso sometido a riesgo de Insuficiencia Renal Crónica en zonas y ocupaciones de riesgo elevado para Nefropatía mesoamericana es uno de los obstáculos más importantes para desarrollar estrategias de prevención en salud pública...(AU)


Subject(s)
Humans , Databases, Bibliographic , Renal Insufficiency, Chronic/complications , Kidney Diseases/diagnosis , Renal Replacement Therapy/methods
16.
Rev. invest. clín ; 71(3): 195-203, May.-Jun. 2019. tab, graf
Article in English | LILACS | ID: biblio-1289687

ABSTRACT

Abstract Background and Aims Glomerular filtration rate (GFR) measurement in patients with liver cirrhosis (LC) is the ideal method for adequate evaluation of kidney function. However, it is invasive, costly, and not widely accessible. Moreover, GFR estimation in patients with cirrhosis has been inaccurate. The aim of the present study was to evaluate and validate the recently described Royal Free Hospital (RFH) formula in a Hispanic cohort of patients with LC and compare it with other formulas, including the CKD-EPI cystatin C equation. Methods GFR was measured through the renal clearance of Tc-99m DTPA; it was cross-sectionally evaluated and compared with GFRs that were estimated utilizing the following formulas: RFH, Cockcroft-Gault, 6-variable Modification of Diet in Renal Disease-6, CKD-EPI cystatin C, CKD-EPI Creatinine, and CKD-EPI Cystatin C-Creatinine. Results We included 76 patients (53% women). The mean measured GFR in the entire cohort was 64 ml/min/1.73m2; 54% of the patients had a GFR < 60 ml/min/1.73 m2 at the time of evaluation. The RFH formula and the CKD-EPI cystatin C formula showed the best performance, with a p30 of 62% and 59%, respectively. All formulas performed poorly when GFR was < 60 ml/min/1.73 m2. Conclusions The RFH formula showed a better performance than the other formulas based on serum creatinine in a Hispanic population with LC. There was no difference in performance between the RFH formula and the CKD-EPI cystatin C formula.


Subject(s)
Humans , Male , Female , Middle Aged , Glomerular Filtration Rate/physiology , Kidney Diseases/diagnosis , Kidney Function Tests/methods , Liver Cirrhosis/physiopathology , Cross-Sectional Studies , Retrospective Studies , Cohort Studies , Creatinine/blood , Cystatin C/metabolism , Kidney Diseases/physiopathology , Mexico
18.
Prensa méd. argent ; 104(6): 295-298, Ago2018. fig, graf
Article in Spanish | LILACS, BINACIS | ID: biblio-1051313

ABSTRACT

Renal biopsy is a key procedure for the evaluation and management of the renal diseases, in order to establish a certainty diagnosis, to perform an adequate treatment and to determine the prognosis, while it results in a fundamental tool, but not all the medical centers have the necessary requeriments to carry them succesfully so that it can achieve the maximum benefit, lessen the posible complications, since as it is an invasive technique, always exists a certain risk inherent to the procedure, being the technique of choice the percutaneous renal biopsy guided by ultrasound. The aim of this report, is to know the incidence of the reanl pathology, in kidney biopsies in our Hospita, between July 2008 through July 2017, by mean of a descriptive and retrospective study. Two-thousands and eightsi-six reanl biopsies were analyzed in that period, and we analyzed the frequency of the disease diagnosed, the origin of the samples and thir quality, the age range of the population studied, as well as the complications of the method employed


Subject(s)
Humans , Pathology, Clinical , Minimally Invasive Surgical Procedures , Image-Guided Biopsy/methods , Kidney/pathology , Kidney Diseases/diagnosis
19.
Rev. med. interna Guatem ; 22(1): 31-40, 2018 ene.mar. tab
Article in Spanish | LILACS, LIGCSA | ID: biblio-1052723

ABSTRACT

La detección de micro albuminuria permite el rápido diagnóstico de nefropatía incipiente, predecir desarrollo de proteinuria y aumento de mortalidad; siendo la medición en orina de 24 horas Gold standard para su diagnóstico. En sepsis el aumento de permeabilidad vascular favorece paso de sustancias como albúmina y con ello producir micro albuminuria, cuya medición es pronostica de mortalidad en unidad de terapia intensiva. Diseño: estudio descriptivo transversal donde se evaluaron 27 pacientes ingresados en unidad de terapia intensiva de adultos del hospital general de enfermedades debiendo cumplir con: antecedentes de hipertensión arterial y/o diabetes mellitus, tener diagnóstico de choque hipovolémico o séptico, medición de escalas pronosticas de mortalidad y tener examen de orina de 24 horas para evaluar presencia de micro albuminuria, posteriormente se evaluó la condición de egreso como vivo o muerto. Métodos: Se realizó cálculo de Chi2 de homogeneidad o Test Exacto de Fisher para variables categóricas. La normalidad de variables numéricas se determinó con Shaphiro Wilk; si era normal se realizó t de Student de Muestras independientes y de lo contrario U de Mann Whitney. Resultados: Edad media de 50.29 años, principalmente hombres con antecedente de diabetes y diagnóstico de choque séptico. Obteniéndose una media para micro albuminuria en 31.93 mg/dl en pacientes vivos y para fallecidos 58.69 mg/dl. Las escalas pronosticas de mortalidad fueron estadísticamente significativas (p =0.03) para SOFA y (p =0.010) para escala APACHE, así también se obtuvo (p =0.03) para presencia de Micro albuminuria. Conclusiones: La cuantificación de Micro albuminuria en orina de 24 horas en pacientes con estado de choque en unidadde terapia intensiva es un factor pronóstico de mortalidad al ingreso del paciente.(AU)


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Albuminuria/urine , Kidney Diseases/diagnosis , Kidney Diseases/mortality , Shock/mortality , Shock, Septic/complications , Diabetes Complications/diagnosis , Hypertension/complications
20.
Arch. argent. pediatr ; 115(5): 294-297, oct. 2017. ilus
Article in Spanish | LILACS, BINACIS | ID: biblio-887380

ABSTRACT

El absceso renal representa una patología infrecuente en el recién nacido. Puede presentar consecuencias graves: sepsis con alta mortalidad, cicatrices renales y riesgo de enfermedad renal crónica. Se reporta sobre un recién nacido con absceso renal unilateral a Staphylococcus aureus, con cuadro de septicemia, sin otro foco supurativo ni malformación urinaria, que evolucionó adecuadamente con antibióticos endovenosos, sin tratamiento quirúrgico, aunque con cicatrices renales como secuela. A partir de este caso, se analizan las estrategias de diagnóstico, tratamiento y seguimiento del absceso renal en un neonato y se destaca el diagnóstico precoz para evitar cicatrices renales.


Renal abscess is a rare disease in newborn, but severe consequences can occur: sepsis with high mortality, renal scar formation and risk of chronic renal failure. A neonate with unilateral renal abscess due to Staphylococcus aureus is reported, with septicemia, with no other suppurative focus, nor with urinary malformation, with good clinical evolution with intravenous antibiotics and without surgical treatment, but with renal scars sequel. From this case, the strategies of diagnosis, treatment and followup of the renal abscess in a neonate are analyzed, emphasizing the early diagnosis to avoid renal scars.


Subject(s)
Humans , Male , Infant, Newborn , Staphylococcal Infections/diagnosis , Staphylococcal Infections/drug therapy , Abscess/diagnosis , Abscess/drug therapy , Kidney Diseases/microbiology , Kidney Diseases/diagnosis , Kidney Diseases/drug therapy
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