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Article

Incomplete penetrance of CD46 mutation causing familial atypical hemolytic uremic syndrome.

Pediatric nephrology (Berlin, Germany) - 1 Dec 2015

Bhatia Divya, Khandelwal Priyanka, Sinha Aditi, Hari Pankaj, Cheong Hae Il, Bagga Arvind

Abstract excerpt

BACKGROUND: Hemolytic uremic syndrome (HUS) secondary to homozygous mutations in CD46 is uncommon. While heterozygous individuals may remain asymptomatic, homozygous mutations with severely depleted CD46 surface expression without disease manifestation is rare. METHODS: We report on two siblings with features suggestive of hemolytic uremic syndrome. Estimation of CD46 expression by flow cytometry and gene...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 26307634
DOI: 10.1007/s00467-015-3189-0

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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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