两例晚发型戊二酸尿症Ⅱ型患者的临床及其ETFDH基因研究

发布时间：2018-06-03 14:56

  本文选题：戊二酸尿症Ⅱ型 + 肌病　； 参考：《中国当代儿科杂志》2017年09期

【摘要】：目的报道2个ETFDH基因变异导致的晚发性戊二酸尿症Ⅱ型家系的临床及遗传学特点。方法利用靶向基因捕获二代测序的方法对疑似患者及其家庭成员进行基因测序分析,回顾性分析患者的临床特点并进行文献复习。结果两个家系的先证者分别于10岁和5岁6个月发病,均以肌无力、肌肉酸痛为表现。血清肌酸激酶及其同工酶、乳酸脱氢酶均明显升高。血串联质谱分析提示多种酰基肉碱升高;尿有机酸分析发现戊二酸升高。肌电图提示肌源性损害。基因检测发现患者1的ETFDH基因存在两个新突变:c.1331TC(来自其母亲)和c.824CT(来自其父亲),其弟弟为c.1331TC突变携带者、表型正常。患者2的ETFDH基因检出一个新突变:c.177ins T,及一个已知突变:c.1474TC,分别来自其父母,其家系检出多位携带者。两例先证者均确诊为戊二酸尿症Ⅱ型,予以高剂量维生素B2治疗,症状好转。结论对于肌无力、肌肉酸痛的患者应进行肌酶、血液酯酰肉碱、尿有机酸等检测,警惕戊二酸尿症Ⅱ型的可能,基因分析有助于确诊。
[Abstract]:Objective to report the clinical and genetic characteristics of two pedigrees with late onset glutaruria caused by ETFDH gene mutation. Methods Gene sequencing of suspected patients and their family members was performed by targeting gene capture second-generation sequencing. The clinical characteristics of the patients were analyzed retrospectively and the literature was reviewed. Results the proband of the two families developed myasthenia and muscle soreness at the age of 10 years and 5 years and 6 months respectively. Serum creatine kinase and its isoenzyme, lactate dehydrogenase were significantly increased. Blood tandem mass spectrometry showed that many kinds of acyl carnitine increased, and urinary organic acid analysis showed that glutaric acid increased. Electromyogram (EMG) indicates myogenic damage. Gene analysis showed that there were two new mutations in ETFDH gene of patient 1: c.1331TC (from mother) and c. 824CTfrom his father, and his younger brother was c.1331TC mutant carrier with normal phenotype. A new mutation in the ETFDH gene of patient 2: c.177ins Tand a known mutation: c.1474 TCwere detected by their parents, and multiple carriers were detected in their families. The two proband patients were diagnosed as type 鈪，

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