Article
Autosomal dominant form of type IV collagen nephropathy exists among patients with hereditary nephritis difficult to diagnose clinicopathologically.
Nephrology (Carlton, Vic.) - 1 Oct 2018
Imafuku Aya, Nozu Kandai, Sawa Naoki, Hasegawa Eiko, Hiramatsu Rikako, Kawada Masahiro, Hoshino Junichi, Tanaka Kiho, Ishii Yasuo, Takaichi Kenmei, Fujii Takeshi, Ohashi Kenichi, Iijima Kazumoto, Ubara Yoshifumi
Abstract excerpt
AIM: Type IV collagen nephropathies include Alport Syndrome and thin basement membrane nephropathy (TBMN), which are caused by mutations in COL4A3/A4/A5 genes. Recently, reports of patients with heterozygous mutations in COL4A3/A4 have been increasing. The clinical course of these patients has a wide variety, and they are diagnosed as TBMN, autosomal dominant Alport syndrome (ADAS), or familial focal segmental...
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