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World J Nephrol. 2017 Nov 6;6(6):243-250. doi: 10.5527/wjn.v6.i6.243.

Atypical hemolytic-uremic syndrome due to complement factor I mutation.

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1
Ministry of National Guard, Jeddah 21423, Saudi Arabia.

Abstract

Atypical hemolytic-uremic syndrome (aHUS) is a rare disease of complement dysregulation leading to thrombotic microangiopathy (TMA). Renal involvement and progression to end-stage renal disease are common in untreated patients. We report a 52-year-old female patient who presented with severe acute kidney injury, microangiopathic hemolytic anemia, and thrombocytopenia. She was managed with steroid, plasma exchange, and dialysis. Kidney biopsy shows TMA and renal cortical necrosis. Genetic analysis reveals heterozygous complement factor I (CFI) mutation. Eculizumab was initiated after 3 mo of presentation, continued for 9 mo, and stopped because of sustained hematologic remission, steady renal function, and cost issues. Despite this, the patient continued to be in hematologic remission and showed signs of renal recovery, and peritoneal dialysis was stopped 32 mo after initiation. We report a case of aHUS due to CFI mutation, which, to the best of our knowledge, has not been reported before in Saudi Arabia. Our case illustrates the challenges related to the diagnosis and management of this condition, in which a high index of suspicion and prompt treatment are usually necessary.

KEYWORDS:

Atypical hemolytic-uremic syndrome; Complement factor I mutation; Thrombotic microangiopathy

Conflict of interest statement

Conflict-of-interest statement: All authors have no conflict of interest to declare.

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