以肾脏损伤为首发症状甲基丙二酸血症患儿17例临床分析  

Clinical analysis of methylmalonic academia with the initial symptom of kidney injury in 17 pediatric patients

作　　者：李启亮[1] 李玉清[1] 韩红燕[1] 宋文琪[1] 

机构地区：[1]首都医科大学附属北京儿童医院检验中心,北京100045

出　　处：《中华实用诊断与治疗杂志》2014年第7期660-662,共3页Journal of Chinese Practical Diagnosis and Therapy

基　　金：北京市科委首都特色基金(Z121107005112008)

摘　　要：目的分析以肾脏损伤为首发症状的甲基丙二酸血症（methylmalonic acidemia,MMA）患儿临床特点及实验室检查结果。方法以肾脏损伤为首发症状的MMA患儿17例,检测血、尿常规、尿有机酸分析、血气分析及生化相关指标。结果 17例MMA患儿14例合并同型半胱氨酸血症,3例为单纯MMA;尿液甲基丙二酸水平为（0.100-214.143）mmol/（mmol·Cr）;其中11例尿潜血阳性,9例尿蛋白阳性;尿β2-微球蛋白、微量白蛋白、微量IgG、视黄醇结合蛋白、N-乙酰-β-D-氨基葡萄糖苷酶异常例数分别为10、6、8、10、11例;血氧、血乳酸、尿素氮的异常例数分别为9、11、10例;尿中甲基丙二酸水平与患儿血pH呈负相关（r=-0.493,P=0.022）,与血清谷草转氨酶和谷丙转氨酸水平呈正相关（r=0.455,P=0.000;r=0.826,P=0.033）。结论以肾损伤为首发症状的甲基丙二酸患儿多合并同型半胱氨酸升高;以尿潜血和尿蛋白异常为主;肾小管早期损伤指标中N-乙酰-β-D-氨基葡萄糖苷酶最灵敏,β2-微球蛋白、视黄醇结合蛋白次之;血氨、血乳酸可作为诊断该病的辅助指标;当尿中甲基丙二酸水平明显增高时,应警惕酸中毒和肝损伤发生。Objective To analyze the laboratory features of methylmalonic acidemia （MMA） with the initial symptom of kidney injury. Methods Seventeen pediatric MMA patients with the initial symptom of kidney injury were collected the blood and urine samples to do blood routine test, urine routine test, organic acids analysis, blood gas analysis and biochemical tests. Results In 17 patients with MMA, 14 were complicated with homocysteinemia and 3 were simple MMA. The concentration of urinary methylmalonic acid was from 0. 100 to 214. 143 mmol/（mmol · Cr）. The occult test in urine of 11 cases and the protein in urine of 9 cases were positive. The urinary β2-microglobulin, urinary albumin, urinary immunoglobulin G, retinol binding protein and N-acetyl-beta-D-glucosaminidase were detected abnormal in 10, 6, 8, 10 and 11 patients respectively. The blood ammonia, blood lactic acid and urea nitrogen were abnormal in 9, 11 and 10 patients. The urinary methylmalonic acid was negatively correlated with pH （r=- 0. 493, P= 0. 022）, and negatively correlated with glutamic-pyruvic transaminase and glutamic-oxaloacetic transaminase （r= 0. 455, P=0. 000; r= 0. 826, P=0. 033）. Conclusions The pediatric MMA patients with the initial symptom of kidney injury are commonly complicated with elevated level of serum homocysteine, which is mainly demonstrated by abnormal urine occult blood and urine protein. N-acetyl-beta-D-glucosaminidase is the most sensitive parameter for early renal tubular injury, followed by β2-microglobulin and retinol binding protein. The changes of blood ammonia and lactic acid are helpful for the diagnosis of MMA. When the level of methylmalonic acid in urine increases significantly, acidosis and liver injury might develop.

关 键 词：甲基丙二酸血症 肾损伤 儿童 N-乙酸-β—D-氨基葡萄糖苷酶 血氧 血乳酸 

分 类 号：R725.8[医药卫生—儿科]