Marius Miglinas, Pranas Šerpytis, Urtė Gargalskaitė, Justė Danieliūtė, Algirdas Utkus
Anderson-Fabry disease (AFD) is a X-linked lysosomal storage disorder caused by mutations of the GLA gene that encodes α-galactosidase A, what causes intracellular accumulation of globotriaosylceramide. The main manifestations of AFD are pain attacks, acroparasthesias, cutaneous angiokeratomas, hypohydrosis, kidney, heart and cerebrovascular disorders. Late life-threatening complications include cardiomyopathy, cerebrovascular disease and renal injury. Fabry nephropathy may not appear with clinical signs and symptoms in childhood, but in the older adulthood occurs with significant proteinuria which leads to terminal kidney disease. Proteinuria, hypertension, high level of serum creatinine and low glomerular filtration rate are the main symptoms of progressive kidney disease. Adequate blood pressure control is recommended as proteinuria appears to be correlated with systemic blood pressure in both sexes. Fabry nephropathy treatment focus on control of hypertension, lipids and proteinuria and the main method of patients with terminal kidney disease treatment is kidney transplantation. When there are lack of the other classical manifestations for patients with renal disease, most of these cases are initially diagnosed as chronic glomerulonephritis. In this clinical case chronic glomerulonephropathy was also stated as preliminary diagnosis. AFD was verified by kidney biopsy and genetic testing.
Article in Lithuanian
Keyword(s): Anderson – Fabry disease; Fabry nephropathy; enzyme replacement therapy; hemodialysis; kidney transplantation
Full Text: PDF