| A Case of Familial Atypical Hemolytic Uremic Syndrome Associated with Complement Factor H Mutation in Adults |
| Hyun Kee Lee, M.D.1, Hee Kyung Na, M.D.1, Ji Young Lee, M.D.1, Jai Won Chang, M.D.1, Won Seok Yang, M.D.1, Soon Bae Kim, M.D.1, Jung Sik Park, M.D.1, Su Kil Park, M.D.1, Soon Kil Kwon, M.D.2 and Hae Il Cheong, M.D.3 |
Department of Internal Medicine, Division of Nephrology1 Asan Medical Center University of Ulsan College of Medicine, Seoul, Korea Department of Internal Medicine, Division of Nephrology2 Chungbuk National University Hospital, Chungbuk, Korea Department of Pediatrics3
Seoul National University Children’s Hospital, Seoul, Korea |
| 증례 : 성인에서 발생한 보체 H 인자 돌연변이에 의한 가족성 비전형적 용혈성 요독 증후군 1예 |
| 이현기1, 나희경1, 이지영1, 장재원1, 양원석1, 김순배1, 박정식1, 박수길1, 권순길2, 정해일3 |
| 울산대학교 의과대학 서울아산병원 신장내과학교실1, 충북대학교 의과대학 신장내과교실2, 서울대학교 의과대학 소아과3 |
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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. |
| Key Words:
Hemolytic uremic syndrome, Complement factor H, Mutation |
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