Direct Correlation between Age at Diagnosis and Severity of Nephropathy in Fabry Disease Patients.

INTRODUCTION: Nephropathy is one of the major complications of Fabry disease and mainly includes reduced glomerular filtration rate and proteinuria. Affected patients show different degrees of annual loss of renal function according to the magnitude of proteinuria and decrease in estimated glomerular filtration rate (eGFR) at the baseline. OBJETIVE: To analyze the relationship between age at diagnosis and severity of nephropathy in a Fabry disease population. METHODS: Cross-sectional design with retrospective data collection. RESULTS: Seventy-two patients were studied with mean age of 26.26 ± 16.48 years and 30 men (41.6%). Twenty-seven paediatric patients and 45 adults were included. Thirteen genotypes were found: E398X, L415P, c886A>G, L106R, c.680G>A, A292T, c. 448.delG, R363H, C382Y, R301Q, D109G, del 3 and 4 exons, W81X, all pathogenic mutations of GLA gene. The mean eGFR in paediatric population was 115.81 ± 20.87 ml/min/1.73 m2 and in adults was 80.63 ± 42.22 ml/min/1.73 m2. The Pearson's bilateral correlation coefficient test (value = -0.462) between the age at diagnosis and eGFR indicates inverse correlation between both variables with a strong statistical significance (P = < 0.01). Spearman's bilateral correlation coefficient (value = +0.385) between the variables at diagnosis and the degree of proteinuria indicates direct correlation between both variables with a strong statistical significance (P = <0.01). CONCLUSIONS: Diagnosis of Fabry disease patients at a younger age could be a key to improve the nephropathy prognosis and allow early and effective interventions.

Variables Associated with a Urinary MicroRNAs Excretion Profile Indicative of Renal Fibrosis in Fabry Disease Patients.

INTRODUCTION: In advanced Fabry nephropathy stages, enzyme replacement theraphy (ERT) efficacy decreases, due to its impossibility to reverse renal fibrosis. Therefore, the finding of early kidney fibrosis biomarkers in affected patients is of interest. During renal fibrosis miR-21, miR-192 and miR-433 (fibrosis promotors) are activated by transforming growth factor-ß (TGF-ß), and miR-29 and miR-200 family (fibrosis supressors) are inhibited by TGF-ß. The aim of this study is to analyze the probability that Fabry disease (FD) patients with some clinical variables can present an urinary microRNAs excretion profile indicative of renal fibrosis through a logistic regression analysis. RESULTS: A population of 34 participants was included: 24 FD patients and 10 controls. 16/24 (66.66%) FD patients presented microRNAs urinary excretion profile indicative of renal fibrosis. This profile was observed by decrease of fibrosis suppresors miR-29 and miR-200 and not by increase of fibrosis promotors miR-21, miR192, and miR-433. Hypohidrosis, angiokeratomas, neuropathic pain, hearing loss, cardiac involvement, male gender, reduced αGalA activity, and renin-angiotensin-aldosterone system inhibitors treatment are associated with the appearance of amicroRNAs urinary excretion profile indicative of renal fibrosis. A probable beneficial effect on urinary microRNAs excretion profile was observed in patients receiving ERT with agalsidase beta. The correlation between parameters of renal function with each family of microRNAs was studied. The only association with statistical significance was found between miR-21 and urine albumin-creatinine ratio (p =0.021). CONCLUSIONS: A probable microRNAs regulation not mediated by TGF-ß should be considered or TGF-ß has a different effect in FD than in other nephropathies on microRNAs regulation. Typical clinical manifestations of classic FD are associated with appearance of urinary microRNAs profile indicative of renal fibrosis. FD patients express renal fibrosis biomarkers in urine prior to onset of pathological albuminuria. A direct correlation between urinary miR-21 and degree of albuminuria was observed.

Nefropatía por enfermedad de Fabry. Rol del nefrólogo y variables clínicas asociadas al diagnóstico / No disponible

ANTECEDENTES: La detección temprana de la nefropatía por enfermedad de Fabry es de interés, pues su tratamiento es más eficaz en estadios precoces. Ha sido estudiada por biomarcadores moleculares y tisulares, pero estos poseen desventajas que dificultan su uso rutinario. El propósito del presente trabajo es describir el rol del nefrólogo en el diagnóstico de la enfermedad y las variables clínicas asociadas a nefropatía en pacientes afectados. MATERIAL Y MÉTODOS: Estudio transversal. Se incluyeron pacientes de tres centros de referencia de Argentina. RESULTADOS: Se estudiaron 72 pacientes (26,26 ± 16,48 años): 30 (41,6%) varones y 42 (58,4%) mujeres; 27 pediátricos y 45 adultos. Se detectaron 14 "casos índice", el 50% diagnosticados por nefrólogos. Se halló nefropatía en 44 pacientes (61%): 6 pediátricos y 38 adultos. Dos tipos de variables clínicas se asociaron a nefropatía: a)compromiso del sistema nervioso periférico (p ≤ 0,001), angioqueratomas (p ≤ 0,001) y compromiso auditivo (p = 0,01-0,001), siendo estas manifestaciones clínicas tempranas del fenotipo más severo de la enfermedad, y b)cardiopatía estructural (p = 0,01-0,001) y compromiso del sistema nervioso central (p = 0,05-0,01), que son complicaciones mayores y tardías, responsables de la morbimortalidad aumentada y la menor expectativa de vida. CONCLUSIÓN: El nefrólogo cumple un rol importante en el diagnóstico de la enfermedad de Fabry, ya que aunque la detección de esta por su compromiso renal significaría diagnóstico tardío, debido a que la nefropatía se asocia a complicaciones tardías del fenotipo más severo de la enfermedad

BACKGROUND: The early detection of Fabry nephropathy is of interest to us. Its treatment is more effective in early stages. It has been studied by analysing molecular and tissue biomarkers. These have certain disadvantages that hinder its routine use. The aim of this study is to describe the role of the nephrologist in the diagnosis of the disease, and to describe the clinical variables associated with nephropathy in affected patients. MATERIAL AND METHODS: Cross-sectional study. Patients were included from three reference centres in Argentina. RESULTS: Seventy two patients were studied (26.26 ± 16.48 years): 30 of which (41.6%) were men and 42 of which (58.4%) were women; 27 paediatric patients and 45 adults. Fourteen "index cases" were detected, 50% of which were diagnosed by nephrologists. Nephropathy was found in 44 patients (61%): 6 paediatric patients and 38 adults. Two types of clinical variables were associated with nephropathy: (I)peripheral nervous system compromise (P ≤ .001), angiokeratomas (P ≤. 001) and auditory compromise (P = .01-.001), with these being early clinical manifestations of the most severe disease phenotype, and (II)structural heart disease (P = .01-.001) and central nervous system compromise (P =.05-.01), which are major and late complications, responsible for increased morbidity and mortality and lower life expectancy. CONCLUSION: The nephrologist plays an important role in the diagnosis of Fabry nephropathy, although the detection thereof owing to its renal involvement would represent a late diagnosis, because nephropathy is associated with late complications of the most severe disease phenotype

Enfermedad vascular en pacientes varones con enfermedad de Fabry en hemodiálisis: estudio de cohorte retrospectivo en Argentina / Vascular disease in male patients with Fabry disease on hemodialysis: a retrospective cohort study in Argentina

Introducción: Los eventos vasculares (EV) tanto cardiovasculares (ECV) como cerebrovasculares (ACV) son la principal causa de muerte en pacientes con enfermedad de Fabry (EF). El objetivo de este estudio fue describir la aparición de EV en pacientes con EF y enfermedad renal crónica terminal (ERCT) en hemodiálisis durante el seguimiento. Material y métodos: Estudio de cohorte retrospectivo realizado en tres centros de Argentina entre enero de 2010 y enero de 2017. Se incluyeron pacientes con EF y ERT en hemodiálisis. Se recopiló información sobre aspectos demográficos, clínicos y EV. Resultados: Se incluyeron ocho pacientes varones adultos (40 ± 4.2 años) con ERCT en hemodiálisis (tiempo medio en diálisis 39.1 ± 20.6 meses), con un tiempo medio de seguimiento de 55 ± 12 meses. Cinco pacientes recibieron terapia de reemplazo enzimático durante el seguimiento. Cuatro pacientes (50%) tuvieron EV durante el seguimiento. En tres de ellos el evento cardiovascular fue fatal. El tiempo medio desde el ingreso a diálisis hasta la aparición del EV fue de 38 ± 8 meses. Conclusión: 50% de los pacientes con EF y ERCT presentaron un EV en un tiempo medio de 38 meses aproximadamente desde su ingreso en diálisis

Introduction: Vascular events (VE), both cardiovascular (CVD) and cerebrovascular (CVA), are the main cause of death in patients with Fabry disease (FD). The aim of this study was to describe the occurrence of VE in patients with FD and end-stage renal disease (ESRD) on hemodialysis during follow-up. Methods: a retrospective, cohort study was carried out at three centers in Argentina between January 2010 and January 2017. Hemodialysis patients with FD and ESRD were included. Information was collected regarding demographic, clinical and VE aspects. Results: Eight adult (40 ± 4.2 year-old) male patients with ESRD on hemodialysis (mean time on dialysis: 39.1 ± 20.6 months) were included; the mean follow-up time was 55 ± 12 months. Five patients received enzyme replacement therapy during follow-up. Four patients (50%) had VE during follow-up. In three of them the cardiovascular event was fatal. The mean time from admission to dialysis until the onset of VE was 38 ± 8 months. Conclusion: 50% of the patients with FD and ESRD presented a VE in a mean time of approximately 38 months since their admission to dialysis

Fabry nephropathy. Role of nephrologist and clinical variables associated with the diagnosis. / Nefropatía por enfermedad de Fabry. Rol del nefrólogo y variables clínicas asociadas al diagnóstico.

BACKGROUND: The early detection of Fabry nephropathy is of interest to us. Its treatment is more effective in early stages. It has been studied by analysing molecular and tissue biomarkers. These have certain disadvantages that hinder its routine use. The aim of this study is to describe the role of the nephrologist in the diagnosis of the disease, and to describe the clinical variables associated with nephropathy in affected patients. MATERIAL AND METHODS: Cross-sectional study. Patients were included from three reference centres in Argentina. RESULTS: Seventy two patients were studied (26.26±16.48years): 30 of which (41.6%) were men and 42 of which (58.4%) were women; 27 paediatric patients and 45 adults. Fourteen "index cases" were detected, 50% of which were diagnosed by nephrologists. Nephropathy was found in 44 patients (61%): 6 paediatric patients and 38 adults. Two types of clinical variables were associated with nephropathy: (i)peripheral nervous system compromise (P≤.001), angiokeratomas (P≤.001) and auditory compromise (P=.01-.001), with these being early clinical manifestations of the most severe disease phenotype, and (ii)structural heart disease (P=.01-.001) and central nervous system compromise (P=.05-.01), which are major and late complications, responsible for increased morbidity and mortality and lower life expectancy. CONCLUSION: The nephrologist plays an important role in the diagnosis of Fabry nephropathy, although the detection thereof owing to its renal involvement would represent a late diagnosis, because nephropathy is associated with late complications of the most severe disease phenotype.

Clinical parameters, LysoGb3, podocyturia, and kidney biopsy in children with Fabry disease: is a correlation possible?

BACKGROUND: Fabry disease is an X-linked lysosomal storage disorder caused by α-galactosidase enzyme deficiency. We present clinical, biochemical, and histologic findings in children with classical phenotypic presentation of Fabry disease. METHODS: A retrospective analysis was performed using charts from 14 children with confirmed diagnosis. Clinical parameters were evaluated. Globotriaosylsphingosine -lysoGb3- detection in plasma, podocyturia, and kidney biopsy were carried out in all cases. RESULTS: All patients except one demonstrated at least one symptom of Fabry disease. LysoGb3 levels were above the normal range in all patients. Podocyturia was documented in all patients. Kidney biopsy revealed glomerular, interstitial, vascular, and tubular changes on light microscopy in nearly all patients. Electron microscopy showed podocyte inclusions in all patients. CONCLUSIONS: No difference in symptomatology was discernible between boys and girls. Podocyturia was detectable in children serving as a possible early marker of kidney injury. LysoGb3 was elevated in all cases, emphasizing the importance for diagnosis especially in female patients with normal αGal A activity. A possible association between lysoGb3 and symptom severity and histological involvement in kidney biopsy should be assessed in prospective studies with enough statistical power to determine if lysoGb3 can be used to predict nephropathy in children with Fabry disease.

Major Organic Involvement in Women with Fabry Disease in Argentina.

Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from the deficiency or absence of the alpha galactosidase A enzyme. Organic involvement in men is well known, but in women it is controversial, partly due to the random X-chromosomes inactivation (Lyon hypothesis). The aim of this study was to describe the organic involvement in women at the time of FD diagnosis. A descriptive, cross-sectional and multicenter study was carried out. Thirty-five women with FD from three reference centers in Argentina were evaluated. The mean age of the whole group (n = 35) was 26.6 ± 16.9 years; 22 were adult (over 18) and 13 were paediatric patients. Enzymatic activity was performed in 29/35 patients, which was normal in 24/29 (82.8%). Seven different mutations of the GLA gene were found. The results showed urinary protein loss (45.7%) and decreased glomerular filtration rate (31.4%), mainly in adults. And also, cornea verticillata (56.5%), peripheral neuropathy (51.4%), cardiovascular manifestations (31.4%), hearing loss (20%), angiokeratomas (20%), central nervous system (17.1%), and gastrointestinal involvement (14.3%). Organic compromise in females with FD may be as severe as in men. This analysis has demonstrated a significant proportion of women with signs, symptoms, and major organic involvement at FD diagnosis.

Early Renal Involvement in a Girl with Classic Fabry Disease.

Fabry disease is an X-linked lysosomal storage disorder resulting from the deficiency or absence of the enzyme alpha galactosidase A; this defect leads to the systemic accumulation of globotriaosylceramide and its metabolites. Organic involvement in men is well known, but in women it is controversial, mainly due to the random X-chromosome inactivation in each of their cells (Lyon hypothesis). This would explain why women (heterozygotes) present a wide variability in the severity of their phenotype. The manifestations are multisystemic and begin in early childhood, reaching a severe compromise in adulthood. Typical acroparesthesia in hands and feet, gastrointestinal symptoms, angiokeratomas, dyshidrosis, hearing loss, arrhythmias, hypertrophic cardiomyopathy, cerebrovascular accidents, and renal failure can be observed. Nephropathy is one of the major complications of Fabry disease. Glomerular and vascular changes are present before progression to overt proteinuria and decreased glomerular filtration rate, even in pediatric patients. A case of incipient renal involvement in a girl with classic Fabry disease is reported.

Switch from agalsidase beta to agalsidase alfa in the enzyme replacement therapy of patients with Fabry disease in Latin America.

There are currently two available enzyme replacement therapies for Fabry disease and little information regarding efficacy and safety of switching therapies. Between 2009 and 2012 there was a worldwide shortage of agalsidase beta and patients on that enzyme were switched to agalsidase alfa. This retrospective observational study assessed a 2-year period of efficacy and safety in a population of Fabry patients, in Argentina (30 patients) and Venezuela (3 patients), who switched therapies from algasidase beta to agalsidase alfa. Thirty-three patients completed 24-months follow-up after the switch (age 32.4 ± 2.0, range 10.0-55.9 years; male: female 23:10). Measures of renal function such as estimated glomerular filtration rate remained almost unchanged in 31 patients without end stage renal disease over the 2 years after switching and urine protein excretion continued stable. Cardiac functional parameters: left ventricular mass index, interventricular septum, left ventricular posterior wall showed no significant change from baseline in the 33 patients. Quality of life, pain and disease severity scores were mostly unchanged after 24-months and agalsidase alfa was generally well tolerated. Our findings showed there is no significant change in the efficacy measured through the renal or cardiac function, quality of life, pain, disease severity scoring and safety for at least 2 years after switching from agalsidase beta to agalsidase alfa.

Switch from agalsidase beta to agalsidase alfa in the enzyme replacement therapy of patients with fabry disease in Latin America

There are currently two available enzyme replacement therapies for Fabry disease and little information regarding efficacy and safety of switching therapies. Between 2009 and 2012 there was a worldwide shortage of agalsidase beta and patients on that enzyme were switched to agalsidase alfa. This retrospective observational study assessed a 2-year period of efficacy and safety in a population of Fabry patients, in Argentina (30 patients) and Venezuela (3 patients), who switched therapies from algasidase beta to agalsidase alfa. Thirty-three patients completed 24-months follow-up after the switch (age 32.4 ± 2.0, range 10.0-55.9 years; male: female 23:10). Measures of renal function such as estimated glomerular filtration rate remained almost unchanged in 31 patients without end stage renal disease over the 2 years after switching and urine protein excretion continued stable. Cardiac functional parameters: left ventricular mass index, interventricular septum, left ventricular posterior wall showed no significant change from baseline in the 33 patients. Quality of life, pain and disease severity scores were mostly unchanged after 24-months and agalsidase alfa was generally well tolerated. Our findings showed there is no significant change in the efficacy measured through the renal or cardiac function, quality of life, pain, disease severity scoring and safety for at least 2 years after switching from agalsidase beta to agalsidase alfa.

Actualmente hay disponibles dos terapias de reemplazo enzimático en enfermedad de Fabry y existe poca información sobre la eficacia y seguridad del cambio de una a la otra. Entre 2009 y 2012 hubo falta a nivel mundial de agalsidasa beta y los pacientes tratados hasta entonces con esa enzima iniciaron tratamiento con agalsidasa alfa. El presente estudio retrospectivo, observacional evaluó la eficacia y seguridad a 2 años en pacientes con enfermedad de Fabry en Argentina (30 pacientes) y Venezuela (3 pacientes), que cambiaron su tratamiento de agalsidasa beta a agalsidasa alfa. Treinta y tres pacientes completaron 24 meses de seguimiento post-cambio (edad 32.4 ± 2.0; rango 10.0-55.9; hombre: mujer 23:10). La función renal, medida con la tasa de filtrado glomerular, se mantuvo sin cambios en 31 pacientes sin enfermedad renal terminal durante 2 años post-cambio. La secreción de proteína en orina continuó estable. Los parámetros de función cardíaca -índice de masa ventricular izquierda, septum interventricular, espesor de la pared posterior ventricular- no mostraron cambios significativos post-cambio de terapia en los 33 pacientes. La calidad de vida, el dolor y la gravedad de la enfermedad se mantuvieron mayormente estables luego de 24 meses, y la agalsidasa alfa fue generalmente bien tolerada. Nuestros resultados muestran que no hay cambios significativos en la eficacia medida por la función renal y cardíaca, en la seguridad y en los valores de la calidad de vida, el dolor o la gravedad de la enfermedad durante al menos 2 años luego del cambio de agalsidasa beta a agalsidasa alfa.

Recomendaciones para el inicio de la terapia de reemplazo enzimático en pacientes con Enfermedad de Fabry clásica en Latinoamérica / Guidelines to start enzyme replacement therapy in classic Fabry Disease patients in Latin America

INTRODUCCIÓN: La Enfermedad de Fabry es una entidad rara hereditaria ligada al cromosoma X, debida a la deficiencia o ausencia de la enzima α-galactosidasa A. OBJETIVO: Presentar la primera recomendación para el inicio oportuno de la terapia de reemplazo enzimático en la variante clásica de la enfermedad, en base al conocimiento y experiencia en el manejo de estos pacientes por un grupo de profesionales expertos en el tema pertenecientes a diez países de Latinoamérica: Argentina, Brasil, Colombia, Costa Rica, Chile, Ecuador, México, Perú, Uruguay y Venezuela. MATERIAL Y MÉTODOS: El coordinador del proyecto diseñó un documento fuente, basado en los criterios de inicio del tratamiento establecidos en las distintas guías internacionales publicadas a la fecha. Posteriormente, se distribuyó la encuesta a todos los participantes para su evaluación. RESULTADOS: Cincuenta expertos respondieron la encuesta online, siendo los criterios divididos en 5 secciones por especialidad, logrando un consenso entre todos ellos. Discusión: Debido a la creciente evidencia sobre la mejor respuesta y pronóstico asociada a un inicio de tratamiento precoz, se definieron los criterios que pueden llevar a una temprana indicación del tratamiento. CONCLUSIÓN: Entendemos que uno de los méritos de esta recomendación fue la inclusión de expertos pertenecientes a 10 países latinoamericanos. Sin embargo, como toda recomendación en una enfermedad multisistémica en plena descripción de nuevos mecanismos fisiopatológicos y complicaciones asociadas quedan manifestaciones no incluidas dentro de los criterios, lo que obliga a la constante necesidad de revisar estas recomendaciones, para poder incluir los cambios a medida que vayan ocurriendo en próximos reportes

INTRODUCTION: Fabry disease is a rare inherited X-linked disorder resulting from the absence or deficient activity of the α-galactosidase A enzyme. OBJECTIVE: To provide the first guideline on the best time to start enzyme replacement therapy to treat classic Fabry disease, based on the knowledge and experience of experts from ten Latin American countries: Argentina, Brazil, Colombia, Costa Rica, Chile, Ecuador, Mexico, Peru, Uruguay and Venezuela. METHODS: The project coordinator designed a survey based on the criteria for starting the treatment which are established in different international guidelines published to date. This document was later sent to all the participants for its evaluation. RESULTS: Fifty experts responded to the survey, whose criteria was divided into 5 sections according to specialty, and they arrived at a consensus. Discussion: The criteria for an early treatment were defined given the growing evidence of a better response and prognosis associated with it. CONCLUSION: We believe that the importance of this guideline relies on the participation of experts from ten Latin American countries. However, as it deals with a systemic disease whose physiopathological mechanisms and complications are still being described, some manifestations have not been included in the criteria, making it necessary to revise this guideline in order to report any changes that may arise in the future

Enfermedad de Fabry: la importancia de la terapia de reemplazo enzimático (TRE): tratar rápida y eficazmente / Fabry Disease: the importance of the, enzyme replacement therapy (TRE): treating quickly and efficiently

La enfermedad de Fabry en un trastorno lisosomal por ausencia o deficiencia de la enzima Alfa galactosidasa A que genera un acúmulo patológico de glicoesfingolípidos principalmente en células endoteliales, musculares lisas de vasos sanguíneos y podocitos entre otras. La terapia de reemplazo enzimático es la única chance de tratamiento específico a la fecha. El creciente conocimiento de los mecanismos fisiopatológicos ha llevado a cambiar el manejo de la enfermedad y por sobretodo el momento de inicio del tratamiento. Actualmente el inicio en edades más tempranas parece ser una forma de evitar y en algunos casos revertir algunos de los signos y síntomas de la enfermedad de Fabry.

Fabry Disease is a lysosomal disorder due to the absence or deficiency of the Alpha galactosidase A enzyme that causes a pathological ac cumulation of glycosphingolipids mainly in the REVISIÓN endothelial cells, vascular smooth muscle cells and podocytes among others. Enzyme replacement therapy is the only option for a specific treatment at present. Increasing knowledge of the physiopathological mechanisms has changed the management of the disease and above all, when treatment should begin. At present, beginning treatment at an early age seems to be a way of preventing and in some cases reverting some of the signs and symptoms of Fabry disease.

La enfermedad periodontal se asocia con aumento de PCR en pacientes en hemodiálisis crónica / Periodontal disease associated with an increased CRP in Chronic hemodialysis patients

Introducción: La enfermedad periodontal (EP),primera causa de pérdida dentaria en el adulto, comprende un conjunto de lesiones de etiología infecciosa que pueden causar inflamación crónica. Objetivo: Establecer el estado de salud oral, particularmente periodontal, en una población en hemodiálisis crónica (HDC). Métodos: Se trata de un estudio descriptivo de corte transversal en pacientes en HDC. El examen oral fue realizado por un profesional odontólogo en la unidad de diálisis, simultáneamente con la determinación de Proteína C Reactiva (PCR). Se tabularon datos demográficos, etiología diabética y no diabética, tabaquismo, índice de masa corporal, uso de eritropoyetina, cobertura de salud. Los pacientes se dividieron en con EP y sin EP. Resultados: Participaron 65 pacientes, 67,6% hombres, 13,8 % diabéticos, edad media 60,6+16.5, tiempo medio en HDC (en meses) 60,8+53.5. En 41 pacientes (63,1%) se diagnosticó EP, sólo 5 tuvieron un examen dental normal; presentaron caries 8 pacientes (12%), prótesis 12 (18,5%) ( completa superior e inferior 5, completa superior o inferior 3, parciales 4), restos radiculares 19 (29,2%), ausencia de piezas o movilidad dentarias 9 (14%). El grupo con EP vs sin EP presentó PCR 13,6+12,8 vs 7,81+6,5 (valor normal <6mgr/dl), Edad media 58,7+18 vs 63,9+13; tiempo en HDC 60,8+59 vs 57,3+47 respectivamente. Las diferencias fueron estadísticamente significativas sólo con respecto a la PCR (p=0,037). Conclusiones:La prevalencia de patología odontológica fue alta, con franco predominio de la EP. El grupo con EP tuvo significativamente mayor PCR, como marcador de inflamación. La EP es una causa prevenible y tratable de inflamación crónica que debería incluirse en la evaluación al ingreso a HDC.

Introduction: Periodontal disease (PD), the main cause of tooth loss in adults, comprises a series of conditions of infectious etiology that can produce chronic inflammation. Objective: To determine the oral, particularly periodontal,health condition in chronic hemodialysis (CHD) patients. Methods: This is a descriptive, crosssectional study in CHD patients. The oral examination was performed by a certified odontologist in the dialysis unit, together with a C-reactive protein (CRP) assessment. Demographic data, diabetic and non-diabetic etiology, smoking, body mass index, erythropoietin use and health coverage information has been provided in tabulated form. Patients were divided into PD and non-PD groups. Results: 65 patients took part: 67.6% were male, 13.8 % diabetic, mean age of 60.6+16.5, mean time on CHD 60.8+53.5. Forty one patients were diagnosed with PD (63.1%), only 5 had a normal oral examination; 8 patientshad caries (12%), 12 had prosthesis (18.5%) (5 with complete superior and inferior, 3 with complete superior or inferior, 4 with partial prosthesis), 19 presented radicular remains (29.2%), 9 had pieces missing or dental motility (14%). The PD group vs. the non-PD group showed a CRP 13.6+12.8 vs. 7.81+6.5, a mean age of 58.7+18 vs. 63.9+13; a time on CHD of 60.8+59 vs. 57.3+47, respectively. Differences were only statistically significant in connection with the CRP (p=0.037). Conclusions: The prevalence of dental pathologies was high, with a notorious predominance of PD. The PD group had a significantly higher CRP, as inflammation marker. PD is a preventable and treatable cause of chronic disease which should be included in the starting CHD assessment.

La enfermedad periodontal se asocia con aumento de PCR en pacientes en hemodiálisis crónica / Periodontal disease associated with an increased CRP in Chronic hemodialysis patients

Introducción: La enfermedad periodontal (EP),primera causa de pérdida dentaria en el adulto, comprende un conjunto de lesiones de etiología infecciosa que pueden causar inflamación crónica. Objetivo: Establecer el estado de salud oral, particularmente periodontal, en una población en hemodiálisis crónica (HDC). Métodos: Se trata de un estudio descriptivo de corte transversal en pacientes en HDC. El examen oral fue realizado por un profesional odontólogo en la unidad de diálisis, simultáneamente con la determinación de Proteína C Reactiva (PCR). Se tabularon datos demográficos, etiología diabética y no diabética, tabaquismo, índice de masa corporal, uso de eritropoyetina, cobertura de salud. Los pacientes se dividieron en con EP y sin EP. Resultados: Participaron 65 pacientes, 67,6% hombres, 13,8 % diabéticos, edad media 60,6+16.5, tiempo medio en HDC (en meses) 60,8+53.5. En 41 pacientes (63,1%) se diagnosticó EP, sólo 5 tuvieron un examen dental normal; presentaron caries 8 pacientes (12%), prótesis 12 (18,5%) ( completa superior e inferior 5, completa superior o inferior 3, parciales 4), restos radiculares 19 (29,2%), ausencia de piezas o movilidad dentarias 9 (14%). El grupo con EP vs sin EP presentó PCR 13,6+12,8 vs 7,81+6,5 (valor normal <6mgr/dl), Edad media 58,7+18 vs 63,9+13; tiempo en HDC 60,8+59 vs 57,3+47 respectivamente. Las diferencias fueron estadísticamente significativas sólo con respecto a la PCR (p=0,037). Conclusiones:La prevalencia de patología odontológica fue alta, con franco predominio de la EP. El grupo con EP tuvo significativamente mayor PCR, como marcador de inflamación. La EP es una causa prevenible y tratable de inflamación crónica que debería incluirse en la evaluación al ingreso a HDC.(AU)

Introduction: Periodontal disease (PD), the main cause of tooth loss in adults, comprises a series of conditions of infectious etiology that can produce chronic inflammation. Objective: To determine the oral, particularly periodontal,health condition in chronic hemodialysis (CHD) patients. Methods: This is a descriptive, crosssectional study in CHD patients. The oral examination was performed by a certified odontologist in the dialysis unit, together with a C-reactive protein (CRP) assessment. Demographic data, diabetic and non-diabetic etiology, smoking, body mass index, erythropoietin use and health coverage information has been provided in tabulated form. Patients were divided into PD and non-PD groups. Results: 65 patients took part: 67.6% were male, 13.8 % diabetic, mean age of 60.6+16.5, mean time on CHD 60.8+53.5. Forty one patients were diagnosed with PD (63.1%), only 5 had a normal oral examination; 8 patientshad caries (12%), 12 had prosthesis (18.5%) (5 with complete superior and inferior, 3 with complete superior or inferior, 4 with partial prosthesis), 19 presented radicular remains (29.2%), 9 had pieces missing or dental motility (14%). The PD group vs. the non-PD group showed a CRP 13.6+12.8 vs. 7.81+6.5, a mean age of 58.7+18 vs. 63.9+13; a time on CHD of 60.8+59 vs. 57.3+47, respectively. Differences were only statistically significant in connection with the CRP (p=0.037). Conclusions: The prevalence of dental pathologies was high, with a notorious predominance of PD. The PD group had a significantly higher CRP, as inflammation marker. PD is a preventable and treatable cause of chronic disease which should be included in the starting CHD assessment.(AU)

[Guidelines for diagnosis, monitoring and treatment of Fabry disease]. / Guía para el diagnóstico, seguimiento y tratamiento de la enfermedad de Fabry.

Fabry disease is an X-linked hereditary lysosomal storage disorder caused by deficiency of the enzyme alpha-galactosidase A. Knowledge about this disease, and its medical management, has made remarkable progress in the last decade, including the development of its specific treatment. This guide was developed by medical professionals from various specialties involved in the care of patients with Fabry disease. The discussion and analysis of the available scientific evidence, coupled with the experience of each of the participants, has allowed us to develop the concepts included in this guide in order to provide a useful tool for all professionals who care for patients with Fabry disease.

Guía para el diagnóstico, seguimiento y tratamiento de la enfermedad de Fabry / Guidelines for diagnosis, monitoring and treatment of Fabry disease

La enfermedad de Fabry es un trastorno de almacenamiento lisosomal hereditario ligado al cromosoma X, ocasionado por el déficit de la enzima alfa galactosidasa A. El conocimiento sobre esta patología, y en particular su manejo médico, ha progresado notablemente en la última década, incluyendo el desarrollo de su tratamiento específico. La presente guía fue desarrollada por profesionales médicos de diversas especialidades involucrados en la atención de pacientes con enfermedad de Fabry. La discusión y análisis de las evidencias científicas disponibles, sumado a la experiencia de cada uno de los participantes, ha permitido desarrollar los conceptos vertidos en esta guía con el objetivo de brindar una herramienta útil para todos los profesionales que asisten a pacientes con enfermedad de Fabry.(AU)

Fabry disease is an X-linked hereditary lysosomal storage disorder caused by deficiency of the enzyme alpha-galactosidase A. Knowledge about this disease, and its medical management, has made remarkable progress in the last decade, including the development of its specific treatment. This guide was developed by medical professionals from various specialties involved in the care of patients with Fabry disease. The discussion and analysis of the available scientific evidence, coupled with the experience of each of the participants, has allowed us to develop the concepts included in this guide in order to provide a useful tool for all professionals who care for patients with Fabry disease.(AU)

Guía para el diagnóstico, seguimiento y tratamiento de la enfermedad de Fabry / Guidelines for diagnosis, monitoring and treatment of Fabry disease

La enfermedad de Fabry es un trastorno de almacenamiento lisosomal hereditario ligado al cromosoma X, ocasionado por el déficit de la enzima alfa galactosidasa A. El conocimiento sobre esta patología, y en particular su manejo médico, ha progresado notablemente en la última década, incluyendo el desarrollo de su tratamiento específico. La presente guía fue desarrollada por profesionales médicos de diversas especialidades involucrados en la atención de pacientes con enfermedad de Fabry. La discusión y análisis de las evidencias científicas disponibles, sumado a la experiencia de cada uno de los participantes, ha permitido desarrollar los conceptos vertidos en esta guía con el objetivo de brindar una herramienta útil para todos los profesionales que asisten a pacientes con enfermedad de Fabry.

Fabry disease is an X-linked hereditary lysosomal storage disorder caused by deficiency of the enzyme alpha-galactosidase A. Knowledge about this disease, and its medical management, has made remarkable progress in the last decade, including the development of its specific treatment. This guide was developed by medical professionals from various specialties involved in the care of patients with Fabry disease. The discussion and analysis of the available scientific evidence, coupled with the experience of each of the participants, has allowed us to develop the concepts included in this guide in order to provide a useful tool for all professionals who care for patients with Fabry disease.

Guía para el diagnóstico, seguimiento y tratamiento de la enfermedad de Fabry. / [Guidelines for diagnosis, monitoring and treatment of Fabry disease].

Fabry disease is an X-linked hereditary lysosomal storage disorder caused by deficiency of the enzyme alpha-galactosidase A. Knowledge about this disease, and its medical management, has made remarkable progress in the last decade, including the development of its specific treatment. This guide was developed by medical professionals from various specialties involved in the care of patients with Fabry disease. The discussion and analysis of the available scientific evidence, coupled with the experience of each of the participants, has allowed us to develop the concepts included in this guide in order to provide a useful tool for all professionals who care for patients with Fabry disease.