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One case of arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome featuring an incomplete and mild phenotype.

BMC nephrology - 27 Jun 2022

Yu Lianhu, Li Dan, Zhang Ting, Xiao Yongmei, Wang Yizhong, Ge Ting

Abstract excerpt

BACKGROUND: Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare disease with a high mortality rate caused by VPS33B or VIPAS39 mutations. ARC syndrome typically presents with arthrogryposis, renal tubular leak and neonatal cholestatic jaundice, and most patients with this disease do not survive beyond one year. CASE PRESENTATION: Here, we report the case of a 13-year-old girl with ARC featuring...

Topics

Arthrogryposis
Bilirubin
Cholestasis
Female
Humans
Jaundice, Obstructive
Mutation
Phenotype
Pruritus
Renal Insufficiency
Ursodeoxycholic Acid
Vesicular Transport Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35761207
DOI: 10.1186/s12882-022-02851-2
PMCID: PMC9235188

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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