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Autosomal dominant form of type IV collagen nephropathy exists among patients with hereditary nephritis difficult to diagnose clinicopathologically
Author(s) -
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
Publication year - 2018
Publication title -
nephrology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.752
H-Index - 61
eISSN - 1440-1797
pISSN - 1320-5358
DOI - 10.1111/nep.13115
Subject(s) - alport syndrome , medicine , nephritis , pathology , glomerular basement membrane , nephropathy , glomerulonephritis , type iv collagen , proteinuria , gastroenterology , kidney , genetics , endocrinology , biology , diabetes mellitus , extracellular matrix , laminin
Summary at a Glance The study revealed that 69% of families with hereditary nephritis that was difficult to diagnose clinicopathologically had heterozygous mutations of COL4A3/A4 (TBMN/ADAS). The finding suggests the importance of genetic testing in appropriate patients.