Clinical analysis and follow-up of 16 children with methylmalonic aciduria combined with renal injury / 中国小儿急救医学

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.