| Hemolytic uremic syndrome due to homozygous factor H deficiency. | |
| | |
MedLine Citation:
|
PMID: 19568827 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
The majority of complement factor H mutations associated with atypical hemolytic uremic syndrome (HUS) are heterozygous. Homozygous mutations causing atypical hemolytic uremic syndrome are rare. We report a 7-month-old boy with HUS, severe hypocomplementemia (low C3 and normal C4 levels), and extremely low circulating levels of factor H. Genetic analysis showed homozygous 4 bp deletion in the gene encoding factor H in the patient, with his parents being carriers. The patient showed progression to end-stage renal disease and is presently on chronic ambulatory peritoneal dialysis. |
| | |
Authors:
|
Sidharth Kumar Sethi; Dragon-Durey Marie-Agnes; Neelam Thaker; Pankaj Hari; Arvind Bagga |
Related Documents
:
|
18349467 - Goitre and hearing impairment in a patient with pendred syndrome. 15925797 - Meningioma arising in werner syndrome confirmed by mutation analysis. 17875937 - Biochemical and functional characterization of germ line kras mutations. 14648217 - Further delineation of the congenital form of x-linked dyskeratosis congenita (hoyeraal... 10350737 - Medical exclusion from sport. 1424167 - Growth hormone binding protein in werner's syndrome. |
Publication Detail:
|
Type: Case Reports; Journal Article Date: 2009-07-01 |
Journal Detail:
|
Title: Clinical and experimental nephrology Volume: 13 ISSN: 1437-7799 ISO Abbreviation: Clin. Exp. Nephrol. Publication Date: 2009 Oct |
Date Detail:
|
Created Date: 2009-10-01 Completed Date: 2009-12-07 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 9709923 Medline TA: Clin Exp Nephrol Country: Japan |
Other Details:
|
Languages: eng Pagination: 526-30 Citation Subset: IM |
Affiliation:
|
Division of Pediatric Nephrology, Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, 110029, India. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Base Sequence Complement C3 / genetics, metabolism Complement C4 / genetics, metabolism Complement Factor H* / deficiency, genetics DNA Mutational Analysis Female Genetic Predisposition to Disease Hemolytic-Uremic Syndrome* / etiology, genetics Heterozygote Humans Infant Kidney / pathology Male Molecular Sequence Data |
| Chemical | |
Reg. No./Substance:
|
0/Complement C3; 0/Complement C4; 80295-65-4/Complement Factor H |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Atomoxetine in children and adolescents with attention-deficit/hyperactivity disorder: a 6-week, ran...
Next Document: Imatinib mesylate inhibited rat adjuvant arthritis and PDGF-dependent growth of synovial fibroblast ...