Compromiso renal en la Enfermedad de Fabry en la edad pediátrica / RENAL INVOLVEMENT IN CHILDREN WITH FABRY'S DISEASE

La Enfermedad de Fabry (EF) es un trastorno hereditario, ligado al cromosoma X, con una incidencia de 1/40.000 nacidos vivos. Se sabe que afecta tanto a varones como a mujeres y sus primeras manifestaciones clínicas comienzan en edades pediátricas. La actividad reducida o nula de la enzima lisosomal alfa-galactosidasa A (α-Gal A), que es la comprometida en la EF, genera la acumulación progresiva de su sustrato, principalmente la globotriosilceramida (Gb3) en las diferentes estirpes celulares de los distintos órganos. El fallo renal es una de las complicaciones serias de la enfermedad.efropatía por Fabry, pese a que la enfermedad está presente desde la infancia, suele manifestarse de forma silente, aún en los estudios clínicos de rutina. Un diagnóstico precoz y oportuno es crucial dado que la demora en el inicio de la terapia de reemplazo enzimático parece no lograr detener la enfermedad renal progresiva. Esta revisión tiene como objetivo proporcionar una actualización de la comprensión actual, los desafíos y las necesidades para abordar mejor las complicaciones renales de la enfermedad de Fabry en niños. Intentar comprender la fisiopatología de éste compromiso puede ayudar a prevenir su progresión

Fabry´s disease is an x-chromosome hereditary disease with an incidence of 1/40000 newborns. Nowadays it is present in males as in females , and its first clinical symptoms are seen in pediatric patients. Patients have reduced or no activity of alpha-galactosidase which leads to progressive accumulation of Gb3 in lysosomes of all types of cells. Renal failure is a serious complication of this disease. Fabry´s nephropathic lesions are present and progress in childhood while the disease commonly remains silent by routine clinical measures. Early and timely diagnosis is crucial since late initiation of enzyme replacement therapy may not halt progressive renal dysfunction. This review aims to provide an update of the current understanding, challenges, and needs to better approach renal complications of Fabry´s disease in children. Trying to understand the pathophysiology of this compromise may help prevent its progression

Fabry disease in Argentina: an evaluation of patients enrolled in the Fabry Registry.

AIMS: Fabry disease (FD) is an X-linked inborn error of metabolism caused by alpha-galactosidase A deficiency. The Fabry Registry is an ongoing, global observational database that compiles clinical data from patients with FD. METHODS: Demographic and baseline clinical characteristics of Fabry Registry patients enrolled in Argentina were analysed and compared with patients enrolled in the rest of the world (ROW). Baseline clinical parameters included chronic kidney disease (CKD) stage, urine protein-to-creatinine ratio and left ventricular posterior wall thickness. Only data from untreated patients were included. RESULTS: As of 1 October 2010, 3752 patients were enrolled in the Registry, 70 patients from Argentina and 3682 from the ROW. Argentinean male subjects were younger than Fabry Registry male subjects enrolled in ROW: mean current age 32.5 years vs. 39.0 years for men (p = 0.0257 by t-test). The current age (mean ± standard deviation) of female subjects enrolled in Argentina was not significantly different from that of female subjects enrolled in the ROW: 40.1 ± 17.28 vs. 43.2 ±17.95 years respectively (p = 0.2967). Overall, a smaller percentage of patients from Argentina received ERT compared with patients in the ROW (54% vs. 58% respectively). When evaluated by gender, more men and fewer women in Argentina received ERT compared with ROW (85% vs. 79% for men and 27% vs. 38% for women). A larger proportion of patients in ROW had severe CKD (stage 4 or 5) compared with Argentina (9.8% vs. 0%), most likely because of the older age of the ROW population. CONCLUSIONS: The enrolment of Argentinean patients into the Fabry Registry has steadily increased, as has the inclusion of female and paediatric patients with FD. The medical community in Argentina should be aware of FD in these populations, as awareness will facilitate prompt diagnosis and initiation of treatment, thus leading to improved outcomes.