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CASE REPORT
Year : 2018  |  Volume : 9  |  Issue : 3  |  Page : 104-107

A rare sporadic case of C3 gene mutation in 5-month-old baby girl with atypical hemolytic uremic syndrome, with good prognosis


1 King Abdullah International Medical Research Center; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences; Department of Pediatrics, King Abdulaziz Medical City, Ministry of the National Guard – Health Affairs, Jeddah, Saudi Arabia
2 King Abdullah International Medical Research Center; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Jeddah, Saudi Arabia

Correspondence Address:
Dr. Hani Almalki
King Abdullah International Medical Research Center, King Abdulaziz Medical City, Western Region, Jeddah; King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Western Region, Jeddah
Saudi Arabia
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/joah.joah_31_18

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Atypical hemolytic uremic syndrome (aHUS) is a rare form of thrombotic microangiopathy representing <10% of HUS cases, characterized by hemolytic anemia, thrombocytopenia, and renal failure. A 5-month-old baby girl, the daughter of Saudi nonconsanguineous parents, presented with fever, vomiting, and watery diarrhea when she was admitted as a case of gastroenteritis. The laboratory results showed high urea (10.2 mmol/L) and creatinine (134 μmol/L) as well as low hemoglobin (4.5 g/dL) and a low platelet count (81 × 109/L) with a normal coagulation profile. Blood, urine, and stool cultures were all negative for bacterial growth. Despite the lack of strong indicators of aHUS, the patient received 4 weekly cycles of eculizumab in the induction phase (300 mg/m2/dose intravenously over 2 h) based on the clinical emergence diagnosis. She showed dramatic improvements in clinical and laboratory parameters and was taken off peritoneal dialysis. Molecular tests confirmed our clinical diagnosis and revealed a rare heterozygous missense variant of the C3 gene, c.3343G>A, p.(Asp1115Asn). The early recognition and administration of eculizumab are a lifesaving measure. C3 gene mutations are an autosomal dominant inherited pattern, with 50% risk of inheriting this mutation. Therefore, genetic counseling and family member testing are recommended.


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