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KMID : 0359920090280030259
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Korean Journal of Nephrology
2009 Volume.28 No. 3 p.259 ~ p.264
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A Case of Familial Atypical Hemolytic Uremic Syndrome Associated with Complement Factor H Mutation in Adults
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Lee Hyun-Kee
Kim Soon-Bae
Cheong Hae-Il
Chang Jai-Won
Yang Won-Seok
Park Jung-Sik
Park Su-Kil
Lee Ji-Young
Na Hee-Kyung
Kwon Soon-Kil
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Abstract
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The hemolytic uremic syndrome is a clinical syndrome defined by the presence of thrombocytopenia, microangiopathic hemolytic anemia and acute renal failure. Atypical hemolytic uremic syndrome (aHUS) which is not usually associated with prodromal symptoms, especially diarrhea, has a higher mortality rate and a stronger tendency to progress to chronic renal failure. In approximately 30-50% of patients with aHUS, mutations have been detected in complement factor H, membrane cofactor protein or factor I. Mutations in the complement regulator factor H are the most frequent and have a very poor prognosis, with most patients developing ESRD. We have experienced a 33-year-old man with a family history of renal failure diagnosed as aHUS resulted from factor H mutation, for whom we carried out hemodialysis, plasmapheresis and other conservative management.
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KEYWORD
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Hemolytic uremic syndrome, Complement factor H, Mutation
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