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Article

A novel compound heterozygous COL4A4 mutation in a Chinese family with Alport syndrome: A care case report.

Medicine - 24 Nov 2021

Chen Ji-Yu, Cui Jing-Jing, Yang Xi-Ran, Li Yan-Fang, Zhang Yan-Hua, Chen Jia-Ni, Lin Jun-Yu, Zhao Bo

Abstract excerpt

RATIONALE: Alport syndrome (AS) is an inherited progressive renal failure, characterized by kidney disease, hearing loss, and eye abnormalities. PATIENT CONCERNS: A 7-year-old male child was admitted for persistent microscopic hematuria and proteinuria. DIAGNOSES: Combined with clinical manifestations, laboratory testing, pathological changes of kidney and sequencing results, the patient was diagnosed as AS....

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Identifiers

PMID: 34964757
DOI: 10.1097/MD.0000000000027890
PMCID: PMC8615339

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A novel compound heterozygous COL4A4 mutation in a Chinese family with Alport syndrome: A care case report.PMID 34964757Read ↗

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