A Case of Familial Atypical Hemolytic Uremic Syndrome Associated with Complement Factor H Mutation in Adults.
- Author:
Hyun Kee LEE
1
;
Hee Kyung NA
;
Ji Young LEE
;
Jai Won CHANG
;
Won Seok YANG
;
Soon Bae KIM
;
Jung Sik PARK
;
Su Kil PARK
;
Soon Kil KWON
;
Hae Il CHEONG
Author Information
1. Department of Internal Medicine, Division of Nephrology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea. skpark@amc.seoul.kr
- Publication Type:Case Report
- Keywords:
Hemolytic uremic syndrome;
Complement factor H;
Mutation
- MeSH:
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
- From:Korean Journal of Nephrology
2009;28(3):259-264
- CountryRepublic of Korea
- Language:Korean
-
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.
