A Novel Mutation in LMX1B (p.Pro219Ala) Causes Focal Segmental Glomerulosclerosis with Alport Syndrome-like Phenotype

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. Althou...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8502659/
https://www.ncbi.nlm.nih.gov/pubmed/33814499
http://dx.doi.org/10.2169/internalmedicine.6987-20

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