Korean J Nephrol.
2009 May;28(3):259-264.
A Case of Familial Atypical Hemolytic Uremic Syndrome Associated with Complement Factor H Mutation in Adults
- Affiliations
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- 1Department of Internal Medicine, Division of Nephrology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea. skpark@amc.seoul.kr
- 2Department of Internal Medicine, Division of Nephrology, Chungbuk National University Hospital, Chungbuk, Korea.
- 3Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
Abstract
- 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.
MeSH Terms
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Acute Kidney Injury
Adult
Anemia, Hemolytic
Antigens, CD46
Complement Factor H
Complement System Proteins
Diarrhea
Fibrinogen
Hemolytic-Uremic Syndrome
Humans
Kidney Failure, Chronic
Plasmapheresis
Prodromal Symptoms
Prognosis
Renal Dialysis
Renal Insufficiency
Thrombocytopenia
Antigens, CD46
Complement Factor H
Complement System Proteins
Fibrinogen
Hemolytic-Uremic Syndrome
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