Sudden onset of nephrotic syndrome in an asymptomatic Fabry patient: a case report

Abstract

Background: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by the mutation of the GLA gene, encoding the a-galactosidase, which is responsible for the catabolism of neutral glycosphingolipids. Microalbuminuria or low-grade proteinuria, and continuously progressive renal failure are common manifestations in FD males. However, sudden onset of nephrotic syndrome in FD, is rarely reported. Case report: A 32-year-old Chinese man was admitted to our hospital because of sudden onset of generalized edema due to nephrotic syndrome. He denied hypohidrosis, nocturia, and any history of episodic hand or foot pain. A few scattered angiokeratoma can be found on the low back skin on examination. Except for the similar locating pattern of angiokeratoma, no evident abnormality was found in the laboratory work up and physical examination of his younger brother. The patient was diagnosed with FD companying with minimal change disease by renal biopsy. Genetic analysis on our patient and his sibling revealed a nonsense GLA gene variant (c.707G > A, p.Trp236 Ã), which has been previously reported in FD. Immunotherapy alone (steroids and tacrolimus), but without enzyme replacement therapy, much improved the massive proteinuria. Follow up to date, his 24-h urine protein is stable at about 0.5 g, and renal function keeps normal. Conclusion: Sudden onset of nephrotic syndrome, although rare, may occur in FD, even as the primary renal manifestation, but this usually suggests additional renal disease. Immunosuppressive treatment should be considered in such FD patient companying with nephrotic syndrome.

Consenso Colombiano De Expertos Sobre Recomendaciones Basadas en Evidencia Para El Diagnóstico, Tratamiento Y Seguimiento De La Enfermedad De Fabry Con Compromiso Renal

“…Esta condición se clasi ca dentro del grupo de las enfermedades de depósito lisosomal y ocupa el segundo lugar dentro de este [11]. Se caracteriza por la acumulación de globotriaosilceramida (GB-3), globotriaosiles ngosina (liso-Gb3) y galabiosilceramida, a causa de la mutación del gen GLA en el cromosoma X, el cual afecta la presencia o la actividad de la enzima hidrolasa α-Gal A, encargada de la degradación de los glucoes ngolípidos [27][28][29][30]. Al ser una condición asociada al cromosoma X de patrón recesivo, esta afecta predominantemente a los hombres hemicigotos, sin embargo, las mujeres también pueden presentar la enfermedad tipo clásica o leves síntomas leves (fenómeno de Lyon), dependiendo del grado de inactivación o expresión del cromosoma X afectado.…”

“…El compromiso renal en la mayoría de ocasiones es el primer signo de daño grave de afectación de órganos blanco a causa de la enfermedad de Fabry clásica [36]. Clínicamente, la enfermedad renal secundaria a Fabry se mani esta por el desarrollo progresivo de proteinuria de intensidad creciente y por una disminución gradual de la función renal [30,39,43,50,51].…”