Clinical analysis of methylmalonic acidemia with thrombotic microangiopathy as the prominent manifestation / 中国小儿急救医学

ABSTRACT

Objective:To summarize the characteristics of methylmalonic acidemia(MMA) with thrombotic microangiopathy as the prominent manifestation.Methods:Clinical data was collected from MMA patients with thrombotic microangiopathy as the prominent manifestation, who were treated at Shengjing Hospital of China Medical University from September 2014 to December 2019.The clinical manifestations, laboratory results, imaging results, histopathological examination, treatment and prognosis were analyzed.Results:Six children aged 1 month to 7 years old were included in our study, including 5 males and 1 female.Six cases were all MMA complicated hyperhomocysteinemia.All patients had a history of prodromal infection before admission.All cases had edema.Five patients were hypertenson and 4 patients accompanied neurologic presentation.One patient had a family history.All patients were treated with Vitamin B 12, levocarnitine, folic acid and betaine.Three patients′ psychiatric symptoms and renal function were improved and hemolysis were controlled.Two of them were similar with the same age children in intelligence and motor development, with normal renal function, good blood pressure control and normal urine protein.The third one was significantly improved in intelligence development, but still slightly worse than that of the children with the same age.He had no convulsions occurred in recent one year with antiepileptic drugs in oral.His blood pressure was maintained between 135/90-160/110 mmHg(1 mmHg=0.133 kPa), 24-hour urine volume was about 2 000 mL, creatinine was maintained at about 150 μmol/L, ionic level was normal, and urinary protein was 2 + .One case discharged from hospital.Two patients died of multiple organ failure. Conclusion:An early screening of metabolic diseases should be achieved for thrombotic microangiopathy of unknown etiology.Early screening of homocysteine is important for early detection and treatment.