Journal article
Deficiency of complement factor H-related proteins and autoantibody-positive hemolytic uremic syndrome in an infant with combined partial deficiencies and autoantibodies to complement factor H and ADAMTS13
Clinical kidney journal, Vol.11(6), pp.791-796
03/07/2018
DOI: 10.1093/ckj/sfy010
PMCID: PMC6275444
PMID: 30524124
Abstract
A 3-month-old male infant developed an extremely severe episode of atypical hemolytic uremic syndrome (aHUS) associated with partial deficiencies of full-length complement factor H (FH; ∼15% of infant normal) and a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13 (ADAMTS13) (39% of normal) and autoantibodies reactive with both proteins. His FH and ADAMTS13 genes were normal, indicating that the partial deficiencies were acquired, probably as the result of autoantibodies against full-length FH and ADAMTS13. The child also had a homozygous deletion of the complement factor H–related (CFHR)3–CFHR1 portion in the complement factor H (
CFH
) gene cluster. He therefore had deficiency of CFHR proteins and autoantibody-positive hemolytic uremic syndrome (DEAP-HUS) with an unusual early onset associated with a partial deficiency of ADAMTS13 and an anti-ADAMTS13 autoantibody. His clinical episode of aHUS responded to plasma infusion and subsequent treatment with mycophenolate and rituximab. We believe that this is the first report of DEAP-HUS in an infant with partial deficiencies in both ADAMTS13 and full-length FH acquired in association with autoantibodies to both proteins.
Details
- Title: Subtitle
- Deficiency of complement factor H-related proteins and autoantibody-positive hemolytic uremic syndrome in an infant with combined partial deficiencies and autoantibodies to complement factor H and ADAMTS13
- Creators
- Mini Michael - Baylor College of MedicineNancy Turner - Rice UniversityEwa Elenberg - Baylor College of MedicineLinda G Shaffer - Boston Children's HospitalJun Teruya - Baylor College of MedicineMazen Arar - The University of Texas Health Science Center at San AntonioShiu-Ki Hui - Baylor College of MedicineRichard J Smith - University of IowaJoel Moake - Baylor College of Medicine
- Resource Type
- Journal article
- Publication Details
- Clinical kidney journal, Vol.11(6), pp.791-796
- Publisher
- Oxford University Press
- DOI
- 10.1093/ckj/sfy010
- PMID
- 30524124
- PMCID
- PMC6275444
- ISSN
- 2048-8505
- eISSN
- 2048-8513
- Grant note
- ; DK110023 / ;
- Language
- English
- Date published
- 03/07/2018
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
- Record Identifier
- 9984256842202771
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