Article
Female X-linked Alport syndrome with somatic mosaicism.
Clinical and experimental nephrology - 1 Oct 2017
Yokota Kana, Nozu Kandai, Minamikawa Shogo, Yamamura Tomohiko, Nakanishi Keita, Kaneda Hisashi, Hamada Riku, Nozu Yoshimi, Shono Akemi, Ninchoji Takeshi, Morisada Naoya, Ishimori Shingo, Fujimura Junya, Horinouchi Tomoko, Kaito Hiroshi, Nakanishi Koichi, Morioka Ichiro, Taniguchi-Ikeda Mariko, Iijima Kazumoto
Abstract excerpt
BACKGROUND: X-linked Alport syndrome (XLAS) is a progressive, hereditary nephropathy. Although males with XLAS usually develop end-stage renal disease before 30 years of age, some men show a milder phenotype and possess somatic mosaic variants of the type IV collagen α5 gene (COL4A5), with severity depending on variant frequencies. In females, somatic mosaic variants are rarely reported in XLAS, and it is not...
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