Korean J Nephrol.  2007 Jul;26(4):469-474.

A Case of Fabry Disease, Pathologically Revealed as Focal Segmental Glomerulosclerosis

• Joo HR
• Sohn SH
• Nam HK
• An WS
• Kim SE
• Kim KH
• Rha SH

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 disease- related 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.

Keyword

Fabry disease; Alpha-galactosidase A; Proteinuria

MeSH Terms

Administration, Intravenous
alpha-Galactosidase
Angiokeratoma
Enzyme Replacement Therapy
Exons
Fabry Disease*
Glomerulosclerosis, Focal Segmental*
Heart
Humans
Kidney
Leukocytes
Lysosomal Storage Diseases
Male
Nervous System
Neuralgia
Proteinuria
Thiamine
Thiamine
alpha-Galactosidase