[Effect of renin-angiotensin system in Fabry disease associated proteinuria]. / Efecto del bloqueo del sistema renina-angiotensina en la proteinuria asociada a la enfermedad de Fabry.

AIM: To describe the prevalence of renal involvement in Fabry disease patients and determine the role of ACE inhibitors in its treatment. MATERIAL AND METHODS: We studied a family of eight members, diagnosed of Fabry disease after demonstrating alpha-galactosidase deficiency and genetic mutation. Serial biochemical analyses were performed every six months during the three years of follow-up: creatinine, urea, creatinine clearance, proteinuria, microalbuminuria, urinary sediment, blood pressure and glycemia. If urinary alterations were detected, ACE inhibitors were started. At the end of the study, a simple and Doppler ultrasonography was performed. RESULTS: Six of eight patients presented microalbuminuria during the follow-up. Only one of these patients did not develop proteinuria. ACE inhibitors therapy decreased proteinuria in all six patients, however, this decrease was not complete in two of them: in one proteinuria was detected and in the other microalbuminuria persisted. Kidney involvement was not dependent on enzymatic substitution therapy. Renal ultrasonography was normal in patients without biochemical sign of renal affection. In one patient with proteinuria at the moment of the ultrasonography, slightly increased resistance indexes were detected. CONCLUSIONS: Renal involvement is very frequent in patients with Fabry disease (in six of eight in our series). ACE inhibitors are effective in controlling proteinuria in patients with microalbuminuria y proteinuria. These data must be confirmed in larger series. Doppler ultrasonography fails in early renal involvement detection, but as it constitutes an easy and not dangerous technique, it should be done routinely in Fabry patients in order to evaluate its role in the follow-up of these patients.

Efecto del bloqueo del sistema renina-angiotensina en la proteinuria asociada a la enfermedad de Fabry / Effect of renin-angiotensin system in Fabry disease associated proteinuria

Objetivo. Describir la prevalencia de afectación renal y evaluar el papel del bloqueo del sistema renina-angiotensina en el tratamiento de la nefropatía en la enfermedad de Fabry (EF). Material y métodos. Se estudió una familia de ocho miembros afectados por la EF, diagnosticada mediante estudio bioquímico de la enzima deficitaria y la demostración de la mutación. Durante los 3 años de seguimiento se realizaron determinaciones seriadas cada seis meses, de creatinina, urea, aclaramiento de creatinina, sedimento urinario, microalbuminuria y proteinuria en orina, así como control de la tensión arterial y de la glucemia. En el momento de la detección de microalbuminuria, se inició tratamiento con inhibidores de la enzima convertidora de la angiotensina (IECA) o antagonistas de los receptores de angiotensina II (ARA II). Al final del seguimiento se realizó ecografía renal simple y doppler. Resultados. Seis de los ocho pacientes estudiados presentaron microalbuminuria en algún momento de la evolución, de los cuales sólo uno no desarrolló proteinuria franca. El tratamiento IECA produjo una disminución de la cuantía de la proteinuria en todos los pacientes, llegando ésta a desaparecer en cuatro casos, en uno persistió proteinuria franca y en el restante microalbuminuria. La afectación renal apareció de forma independiente al tratamiento enzimático sustitutivo. La ecografía renal no reveló alteraciones significativas en los pacientes sin alteración urinaria en el momento de la realización, y tan sólo en un caso detectó un leve aumento de los índices de resistencia, en el caso de la paciente que presentaba proteinuria persistente. Conclusiones. La afectación renal manifestada como microalbuminuria/proteinuria se da en la mayoría de los pacientes con EF (en 6/8 en nuestra serie). En este contexto, los IECA constituyen un buen tratamiento y conducen con frecuencia a la desaparición de la proteinuria (4/6). Dado lo pequeño de la serie, estos datos están por confirmar con series mayores de casos. La ecografía renal doppler no detecta lesión renal precoz en los pacientes con EF, pero dado lo inocuo de la técnica debería recomendarse su realización de rutina. Hasta el momento ésta es la primera serie que analiza el efecto del bloqueo del sistema renina-angiotensina que ha sido publicada (AU)

Aim. To describe the prevalence of renal involvement in Fabry disease patients and determine the role of ACE inhibitors in its treatment. Material and methods. We studied a family of eight members, diagnosed of Fabry disease after demonstrating alpha-galactosidase deficiency and genetic mutation. Serial biochemical analyses were performed every six months during the three years of follow-up: creatinine, urea, creatinine clearance, proteinuria, microalbuminuria, urinary sediment, blood pressure and glycemia. If urinary alterations were detected, ACE inhibitors were started. At the end of the study, a simple and Doppler ultrasonography was performed. Results. Six of eight patients presented microalbuminuria during the follow-up. Only one of these patients did not develop proteinuria. ACE inhibitors therapy decreased proteinuria in all six patients, however, this decrease was not complete in two of them: in one proteinuria was detected and in the other microalbuminuria persisted. Kidney involvement was not dependent on enzymatic substitution therapy. Renal ultrasonography was normal in patients without biochemical sign of renal affection. In one patient with proteinuria at the moment of the ultrasonography, slightly increased resistance indexes were detected. Conclusions. Renal involvement is very frequent in patients with Fabry disease (in six of eight in our series). ACE inhibitors are effective in controlling proteinuria in patients with microalbuminuria y proteinuria. These data must be confirmed in larger series. Doppler ultrasonography fails in early renal involvement detection, but as it constitutes an easy and not dangerous technique, it should be done routinely in Fabry patients in order to evaluate its role in the follow-up of these patients (AU)