Clinical and genetic analysis of methylmalonic acidemia in children with hemolytic uremic syndrome
10.3760/cma.j.cn441217-20230918-00921
- VernacularTitle:合并溶血尿毒症综合征的甲基丙二酸血症患儿的临床及遗传学分析
- Author:
Ling WAN
1
;
Chaoying CHEN
;
Juan TU
;
Huarong LI
;
Qian CHEN
Author Information
1. 首都儿科研究所附属儿童医院肾脏内科，北京 100020
- Keywords:
Child;
Hemolytic-uremic syndrome;
Methylmalonic acid;
Methylmalonic acidemia;
Homocysteinemia
- From:
Chinese Journal of Nephrology
2024;40(7):553-557
- CountryChina
- Language:Chinese
-
Abstract:
It was a retrospective study. The case data of thirteen patients diagnosed with methylmalonic acidemia (MMA) combined with hemolytic uremic syndrome (HUS) hospitalized at the Children's Hospital Affiliated to Capital Institute of Pediatrics from January 2010 to December 2022 were analyzed, to explore clinical and genetic characteristics of MMA combined with HUS (MMA-HUS). The onset age of MMA was 18 days to 5 years old, with 11 patients of early onset and 2 patients of late onset, 4 patients of simple MMA and 9 patients of combined MMA, and 7 patients of secondary hypertension and 3 patients of secondary pulmonary arterial hypertension. Among 13 patients, 7 patients underwent genetic testing, with 1 patient of MMUT gene mutation and 6 patients of MMACHC gene mutation. The mutation sites were all from their parents and all were known pathogenic variants. Among them, 5 patients had MMACHC gene c.80A>G heterozygous variation, accompanied by cardiovascular involvement. After etiological and symptomatic treatment, 6 patients improved, 7 patients died of multiple organ failure, and all the deaths were early-onset MMA. This study shows that MMA-HUS is more common in early-onset MMA, with a severe condition and a high mortality rate. Its prognosis is related to multiple factors such as genotype, diagnosis and treatment timing. c.80A>G variation of MMACHC gene may be related to HUS and cardiovascular involvement.
