Korean Journal of Nephrology 2007;26(4):469-474.
A Case of Fabry Disease, Pathologically Revealed as Focal Segmental Glomerulosclerosis
Hee Rin Joo, M.D.1, Seung Hyun Sohn, M.D.2, Hyun Kyung Nam, M.D.3,, Won Suk An, M.D.3, Seong Eun Kim, M.D.3 , Ki Hyun Kim, M.D.3 , and Seo Hee Rha, M.D.4
Department of Internal Medicine1
Bumin Hospital; Department of Internal Medicine2
Suyeong Hanseu Hospital, Department of Internal Medicine3
Department of Pathology4
College of Medicine, Dong-A University, Busan, Korea
국소성 분절성 사구체경화증의 병리소견으로 발현된 파브리병 1예
주희린1
부민병원 내과1, 수영한서병원 내과2, 동아대학교 의과대학 내과학교실3, 병리학교실4
Abstract
Fabry disease is an X-linked recessive lysosomal storage disease that is caused by deficient activity of the lysosomal enzyme alpha-galactosidase A. This deficiency results in progressive lysosomal accumulation of glycosphingolipid with particular globotriaosylceramide which accumulates in the heart, kidneys, and the nervous system. The classic Fabry diease affects males, who typically experience an early onset of neuropathic pain, angiokeratoma, and anhydrosis or hypohydrosis. The introduction of enzyme replacement therapy necessitates early awareness of Fabry disease and knowledge of diseaserelated complications. We experienced a man presenting with acroparesthesia, anhydrosis and proteinuria, who had no residual alpha-galactosidase A activity on leukocytes and mutation analysis demonstrated thiamine deletion at position 1077, exon 7 of GLA gene. He was initially diagnosed as focal segmental glomerulosclerosis without electron microscopic examination three years ago. Now he is being treated with recombinant alpha-galactosidase A via intravenous administration for 1 month.
Key Words: Fabry disease, Alpha-galactosidase A, Proteinuria


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