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Identification of a novel mutation and prevalence study for fabry disease in Japanese dialysis patients.

Renal failure - 1 Jan 2012

Nishino Tomoya, Obata Yoko, Furusu Akira, Hirose Misaki, Shinzato Ken, Hattori Kiyoko, Nakamura Kimitoshi, Matsumoto Tadashi, Endo Fumio, Kohno Shigeru

Abstract excerpt

Fabry disease--a genetic disorder characterized by the accumulation of globotriaosylceramide in cell lysosomes resulting from an X-linked deficiency of α-galactosidase A activity--presents with multiorgan manifestations, including progressive renal disease. Recently, its prevalence has been reported to be higher in hemodialysis (HD) patients than in the general population. We, therefore, examined patients on...

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Identifiers

PMID: 22563919
DOI: 10.3109/0886022X.2012.669300

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