抄録
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 novel missense mutation in LMX1B, c.655C>G: p.(Pro219Ala). In silico analyses predicted the pathogenicity of the mutation. Thus, the present case was diagnosed as LMX1B-associated nephropathy presenting with Alport syndrome-like phenotype, expanding the disease spectrum of LMX1B nephropathy.
本文言語 | English |
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ページ(範囲) | 2991-2996 |
ページ数 | 6 |
ジャーナル | Internal Medicine |
巻 | 60 |
号 | 18 |
DOI | |
出版ステータス | Published - 2021 |
ASJC Scopus subject areas
- 内科学