本文選題：戊二酸尿癥Ⅱ型 + 肌病　； 參考：《中國當(dāng)代兒科雜志》2017年09期

【摘要】：目的報道2個ETFDH基因變異導(dǎo)致的晚發(fā)性戊二酸尿癥Ⅱ型家系的臨床及遺傳學(xué)特點。方法利用靶向基因捕獲二代測序的方法對疑似患者及其家庭成員進行基因測序分析,回顧性分析患者的臨床特點并進行文獻復(fù)習(xí)。結(jié)果兩個家系的先證者分別于10歲和5歲6個月發(fā)病,均以肌無力、肌肉酸痛為表現(xiàn)。血清肌酸激酶及其同工酶、乳酸脫氫酶均明顯升高。血串聯(lián)質(zhì)譜分析提示多種酰基肉堿升高;尿有機酸分析發(fā)現(xiàn)戊二酸升高。肌電圖提示肌源性損害。基因檢測發(fā)現(xiàn)患者1的ETFDH基因存在兩個新突變:c.1331TC(來自其母親)和c.824CT(來自其父親),其弟弟為c.1331TC突變攜帶者、表型正常�；颊�2的ETFDH基因檢出一個新突變:c.177ins T,及一個已知突變:c.1474TC,分別來自其父母,其家系檢出多位攜帶者。兩例先證者均確診為戊二酸尿癥Ⅱ型,予以高劑量維生素B2治療,癥狀好轉(zhuǎn)。結(jié)論對于肌無力、肌肉酸痛的患者應(yīng)進行肌酶、血液酯酰肉堿、尿有機酸等檢測,警惕戊二酸尿癥Ⅱ型的可能,基因分析有助于確診。
[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，

本文編號：1973191