Clinical analysis and follow-up of 16 children with methylmalonic aciduria combined with renal injury
10.3760/cma.j.issn.1673-4912.2020.05.008
- VernacularTitle:儿童甲基丙二酸尿症并肾脏受累16例临床及预后分析
- Author:
Qian LI
1
;
Lichun YU
;
Shuzhen SUN
Author Information
1. 山东第一医科大学附属省立医院小儿肾脏风湿免疫科，济南 250021；山东大学附属省立医院小儿肾脏风湿免疫科，济南 250021
- From:
Chinese Pediatric Emergency Medicine
2020;27(5):354-357
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the clinical characteristics and prognosis of children diagnosed as methylmalonic aciduria(MMA) with renal injury.Methods:Sixteen patients diagnosed as MMA with renal injury hospitalized in Shandong Provincial Hospital Affiliated to Shandong University from January 2010 to August 2019 were included.The clinical data and prognosis of the patients were summarized and analyzed retrospectively.Results:Sixteen cases were diagnosed as MMA from 1 days to 7 years old(median 6 months). Renal involvement of 16 patients included isolated hematuria(5 cases), isolated proteinuria(1 cases), hematuria and proteinuria(6 cases), nephritis nephrotic syndrome(2 cases), hemolytic uremic syndrome(2 cases), among them 4 cases accompanied by renal function injury.MMACHC mutation was detected in 2 patients diagnosed as MMA CblC type.One child refused to be treated with vitamin B 12(lost to follow-up after discharge). Among the remaining 15 cases, 5 cases died of multiple organ failure, 5 cases abandoned, 5 cases were saved and the urine routine returned to normal after 1-4 months. Conclusion:The manifestations of MMA combined with renal injury are complicated.Early diagnosis and regular treatment are very important to control the disease and improve the prognosis.
