A young male with kidney damage from genetic mitochondrial disease: case report and literature review.

doi:10.1186/s12882-026-05238-9

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Article

A young male with kidney damage from genetic mitochondrial disease: case report and literature review.

BMC nephrology - 4 Aug 2026

Jia Miao, Wu Qian, Zou Jun, Jin Donghua

Abstract excerpt

BACKGROUND: The most familiar ear and kidney syndrome is Alport syndrome for a nephrologist. Mutations in the mitochondrial gene MT-TL1, which encodes UUR, can also cause renal dysfunction and hearing loss. In this study, we reported a young Chinese male presented with proteinuria and renal dysfunction with a morphological presentation of focal segmental glomerulosclerosis (FSGS) with m.3243 A > G mutation in the...

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Share to Adolescent
Share to Glomerulosclerosis, Focal Segmental
Share to Mitochondrial Diseases
Share to Nephritis, Hereditary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42661185
DOI: 10.1186/s12882-026-05238-9
PMCID: PMC13520176

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.