Article
Screening of Fabry disease in patients with chronic kidney disease in Japan.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 31 Dec 2021
Nagata Akiko, Nasu Makoto, Kaida Yusuke, Nakayama Yosuke, Kurokawa Yuka, Nakamura Nao, Shibata Ryo, Hazama Takuma, Tsukimura Takahiro, Togawa Tadayasu, Saito Seiji, Sakuraba Hitoshi, Fukami Kei
Abstract excerpt
BACKGROUND: Fabry disease (FD), an X-linked lysosomal storage disorder caused by a deficiency in alfa-galactosidase A (α-Gal A) activity due to mutations in the GLA gene, has a prevalence of 0-1.69% in patients undergoing haemodialysis; however, its prevalence in patients with chronic kidney disease (CKD) Stages 1-5 is unknown. METHODS: Serum α-Gal A activity analysis and direct sequencing of GLA were used to...
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