Published online Nov 6, 2017. doi: 10.5527/wjn.v6.i6.243
Peer-review started: June 28, 2017
First decision: September 4, 2017
Revised: September 12, 2017
Accepted: November 1, 2017
Article in press: November 1, 2017
Published online: November 6, 2017
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.
Core tip: Atypical hemolytic-uremic syndrome (aHUS) is a rare disorder. In some cases, complement mutation can be identified. The most common cases involved mutations of genes for complement factor H and membrane co-factor protein, whereas rare cases were linked to complement factor I (CFI) mutation. We here describe the first case of aHUS due to CFI mutation in Saudi Arabia. Our case presented with interesting characteristics including late recovery of kidney failure from dialysis upon initiation of eculizumab and persistent hematologic and renal remissions despite discontinuation of eculizumab.