Article
A heterozygous female with Fabry disease due to a novel α-galactosidase A mutation exhibits a unique synaptopodin distribution in vacuolated podocytes.
Clinical nephrology - 1 May 2015
Takahashi Naoki, Yokoi Seiji, Kasuno Kenji, Kogami Akiya, Tsukimura Takahiro, Togawa Tadayasu, Saito Seiji, Ohno Kazuki, Hara Masanori, Kurosawa Hiroyuki, Hirayama Yoshiaki, Kurose Tomomi, Yokoyama Yoshinari, Mikami Daisuke, Kimura Hideki, Naiki Hironobu, Sakuraba Hitoshi, Iwano Masayuki
Abstract excerpt
We report the case of a 42-yearold woman diagnosed with heterozygous Fabry disease (FD) due to a novel α-galactosidase A Pro210Ser mutation and exhibiting a unique distribution of synaptopodin within podocytes. The patient was referred to our hospital with moderate proteinuria, and a renal biopsy was performed. Light microscopic examination of the specimen revealed diffuse global enlargement of podocytes, which...
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