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

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Abstract

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.

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Author and article information

Journal

Journal ID (iso-abbrev): Pediatr. Nephrol.

Title: Pediatric nephrology (Berlin, Germany)

Publisher: Springer Nature America, Inc

ISSN (Electronic): 1432-198X

ISSN (Print): 0931-041X

Publication date (Electronic): Dec 2015

Volume: 30

Issue: 12

Affiliations

[1 ] Division of Nephrology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India.

[2 ] Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.

[3 ] Research Coordination Center for Rare Diseases, Seoul National University Hospital, Seoul, Korea.

[4 ] Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul, Korea.

[5 ] Division of Nephrology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India. arvindbagga@hotmail.com.

Article

Publisher Item ID: 10.1007/s00467-015-3189-0

DOI: 10.1007/s00467-015-3189-0

PubMed ID: 26307634

SO-VID: 29e28a57-19ef-4b35-b8e9-0e743d3a5fc3

History

Keywords: Atypical hemolytic uremic syndrome,Dengue,Membrane cofactor protein

Data availability:

Keywords: Atypical hemolytic uremic syndrome, Dengue, Membrane cofactor protein

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