Fabry Disease in Hemodialysis Patients in Southern Brazil: Prevalence Study and Clinical Report

• Published in: Renal failure Vol. 30; no. 9; pp. 825 - 830
• Main Authors: Porsch, Daiana Benck, Nunes, Ane Cláudia Fernandes, Milani, Vagner, Rossato, Liana Bertolin, Mattos, Cristiane Bastos, Tsao, Marilyn, Netto, Cristina, Burin, Maira, Pereira, Fernanda, Matte, Úrsula, Giugliani, Roberto, Barros, Elvino José Guardão
• Format: Journal Article
• Language: English
• Published: Colchester Informa UK Ltd 01.01.2008; Taylor & Francis
• Subjects: Adult; Aged; Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy; Biological and medical sciences; Brazil; Cross-Sectional Studies; Emergency and intensive care: renal failure. Dialysis management; end-stage renal disease; Fabry disease; Fabry Disease - diagnosis; Fabry Disease - epidemiology; Fabry Disease - genetics; hemodialysis; Humans; inherited nephropathy; Intensive care medicine; Kidney Failure, Chronic - complications; Kidney Failure, Chronic - genetics; Kidney Failure, Chronic - therapy; lysosomal storage disorder; Male; Medical sciences; Middle Aged; Nephrology. Urinary tract diseases; Nephropathies. Renovascular diseases. Renal failure; Pedigree; Prevalence; Prospective Studies; Renal Dialysis; Renal failure; α-gal A activity; South America; Brazil; America; Nephrology; Prevalence; Chronic renal failure; Hemodialysis; inherited nephropathy; Fabry disease; Cardiovascular disease; Lipids; Enzymopathy; Epidemiology; lysosomal storage disorder; Vascular disease; Extrarenal dialysis; α-gal A activity; Anesthesia; Lipoidosis; Resuscitation; Kidney disease; Human; Nervous system diseases; Urinary system disease; Report; Metabolic diseases; Terminal stage; Hereditary; Lysosomal storage disease; end-stage renal disease; Biological activity; Genetic disease; Heteroantigen; Symptomatology; Nephropathy; Renal failure
• DOI: 10.1080/08860220802353777
• ISSN: 0886-022X

Background. Fabry disease (FD) is a lysosomal storage disorder caused by a deficiency of α-Galactosidase A (α-Gal A). Fabry nephropathy typically progresses throughout the fifth decade to end-stage renal disease (ESRD), requiring hemodialysis and or kidney transplantation. Objective. To estimate the prevalence of FD among ESRD males on hemodialysis treatment in Rio Grande do Sul, the southernmost state of Brazil. Methods. Screening for α-Gal A activity was performed by a dried blood spot (normal reference value: >1.5 nmoles hour mL). Positive screening results were confirmed by plasma α-Gal A activity assay (reference value: >3.3 nmoles hour mL). Results. Five hundred fifty-eight male patients on hemodialysis were evaluated. Of these, only two had low α-Gal A activity and were diagnosed with Fabry disease (0.36%). One of these, age 42, had left ventricular hypertrophy and renal manifestations of Fabry disease without the classic symptoms. The other, age 46, had the classical manifestations of angiokeratomas, acroparesthesias, hypohidrosis, and ocular opacities. Conclusions. Although the prevalence of Fabry disease was very low in our study (0.36%), routine screening of male hemodialysis patients would enable earlier identification of many other affected relatives in their families who might benefit from specific clinical treatment.