Two cases of familial pediatric atypical hemolytic uremic syndrome caused by combined genetic mutations in CFH and CD46
10.3760/cma.j.cn101070-20240612-00362
- VernacularTitle:CFH和 CD46联合基因变异致家族性儿童非典型溶血尿毒综合征2例
- Author:
Haomiao LI
1
;
Yuan HAN
1
;
Chunhua ZHU
1
;
Qiuxia CHEN
1
;
Sanlong ZHAO
1
;
Fei ZHAO
1
;
Guixia DING
1
Author Information
1. 南京医科大学附属儿童医院肾内科，南京 210008
- Publication Type:Journal Article
- Keywords:
Child;
Atypical hemolytic uremic syndrome;
CFH gene;
CD46 gene
- From:
Chinese Journal of Applied Clinical Pediatrics
2025;40(1):63-67
- CountryChina
- Language:Chinese
-
Abstract:
The clinical data of 2 pediatric patients with atypical hemolytic uremic syndrome (aHUS) who were admitted to the Department of Nephrology at the Children′s Hospital of Nanjing Medical University on July 2018 to June 2023 were retrospectively analyzed.Both patients had combined CFH and CD46 gene mutations.One patient, a 2-year-old boy, presented jaundice and darkened urine following mumps.The other patient, a 7-month-old girl and the younger sister of the boy, developed fever, cough, vomiting, and thrombocytopenia without any apparent cause.Laboratory tests revealed hemolytic anemia, thrombocytopenia, and acute kidney injury in both patients.The genetic test results revealed mutations in both CFH (c.3572C>T, p.Ser1191Leu) and CD46 genes (c.293C>T, p.Thr98Ile) in both patients.The patients′ mother is a heterozygous carrier of the CFH gene mutation, while their father is a heterozygous carrier of the CD46 gene mutation.Both parents exhibit normal phenotypes and are currently receiving regular infusions of Eculizumab.The pediatric aHUS caused by combined CFH and CD46 gene mutations is reported in this study for the first time in China.The clinical features of these patients are summarized and analyzed.
