Hemolytic uremic syndrome due to homozygous factor H deficiency

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 extrem...

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Veröffentlicht in:	Clinical and experimental nephrology 2009-10, Vol.13 (5), p.526-530
Hauptverfasser:	Sethi, Sidharth Kumar, Marie-Agnes, Dragon-Durey, Thaker, Neelam, Hari, Pankaj, Bagga, Arvind
Format:	Artikel
Sprache:	eng
Schlagworte:	Base Sequence Case Report Complement C3 - genetics Complement C3 - metabolism Complement C4 - genetics Complement C4 - metabolism Complement Factor H - deficiency Complement Factor H - genetics DNA Mutational Analysis Female Genetic Predisposition to Disease Hemolytic-Uremic Syndrome - etiology Hemolytic-Uremic Syndrome - genetics Heterozygote Humans Infant Kidney - pathology Male Medicine Medicine & Public Health Molecular Sequence Data Nephrology Urology
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