Article
A Novel Mutation in LMX1B (p.Pro219Ala) Causes Focal Segmental Glomerulosclerosis with Alport Syndrome-like Phenotype.
Internal medicine (Tokyo, Japan) - 15 Sept 2021
Oe Yuji, Mishima Eikan, Mori Takayasu, Okamoto Koji, Honkura Yohei, Nagasawa Tasuku, Yoshida Mai, Sato Hiroshi, Suzuki Jun, Ikeda Ryoukichi, Sohara Eisei, Uchida Shinichi, Katori Yukio, Miyazaki Mariko
Abstract excerpt
A 69-year-old woman presented with mild renal dysfunction, proteinuria, and sensorineural hearing loss. A renal biopsy showed focal segmental glomerulosclerosis with thinning of the glomerular basement membrane. There was a positive family history of end-stage kidney disease and hearing loss. Although Alport syndrome was suspected from these features, a genetic test using next-generation sequencer identified a...
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