以肾损伤为首发症状的甲基丙二酸血症一例报告并文献复习

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1、授予单位代码10089学号或申请号20153051中国图书分类号R725.8HebeiMedicalUniversity硕士学位论文专业学位以肾损伤为首发症状的甲基丙二酸血症一例报告并文献复习研究生：潘雪阳导师：张会丰教授王秀霞教授专业：儿科学二级学院：河北医科大学第二医院2018年3月目录中文摘要·················································································1英文摘要···············

2、·································································2英文缩写················································································4研究论文以肾损伤为首发症状的甲基丙二酸血症一例报告并文献复习前言····································································

3、············5对象与方法····································································5结果···········································································6附图···········································································9讨论······

4、········································································10结论···············································································12参考文献·········································································12综述甲基丙二酸血症的研究进展·

5、············································15致谢················································································31个人简历······································································32中文摘要以肾损伤为首发症状的甲基丙二酸血症一例报告并文献复习摘要目的：分析以肾损伤为首发症

6、状的甲基丙二酸血症临床特点，提高临床对于不典型甲基丙二酸病例的认识，总结诊治经验，减少漏诊误诊。方法：详细分析一例以不明原因蛋白尿11年余为主诉的甲基丙二酸血症患儿的病史、临床表现、辅助检查及诊疗经过，并进行相关文献复习。结果：患儿，男，12岁，主因不明原因蛋白尿11年余入院。患儿1岁时因发热住院期间发现尿蛋白，不伴明显神经系统症状或酸中毒表现；此后间断复查尿蛋白持续存在，辗转各医院均未明确病因。来我院时发现患儿除肾损伤外还存在智力低下，查同型半胱氨酸增高，遂进一步行串联质谱筛查，发现血C3、C3

7、/C2和尿甲基丙二酸含量均增高，查基因后明确诊断为甲基丙二酸血症合并同型半胱氨酸血症。给予维生素B12、甜菜碱、左卡尼汀等治疗，但因长时间未得到规范治疗，已造成不可逆损伤，经治疗后肾损伤及智力问题无明显好转。结论：在早期发现甲基丙二酸血症并给予有效处理至关重要，需要医师提高对本病的警惕，对不明原因肾损伤，伴或不伴智力发育落后的患儿及时行血尿遗传代谢筛查、基因检测，减少不典型甲基丙二酸血症的漏诊，提高患儿远期生活水平。关键词：甲基丙二酸血症,肾损伤,同型半胱氨酸血症,血、尿遗传代谢筛查,维生素B12

8、1英文摘要AcasereportofmethylmalonicacidemiawithrenalinjuryasthefirstsymptomandreviewofliteratureABSTRACTObjective:Toanalyzetheclinicalcharacteristicsofmethylmalonicacidemiawithrenalinjuryasthefirstsymptom,improvetheclinicalunderstandingofatypicalc