| 范馨,张改秀,朱彤,等.戊二酸血症 Ⅰ型病儿 5例临床及基因突变分析[J].安徽医药,2024,28(8):1629-1632. |
| 戊二酸血症 Ⅰ型病儿 5例临床及基因突变分析 |
| Clinical analysis and gene mutation of five children with glutaric acidemia type I |
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| DOI：10.3969/j.issn.1009-6469.2024.08.030 |
| 中文关键词: 戊二酸血症 Ⅰ型 GCDH基因 基因突变 |
| 英文关键词: Glutaric acidemia type I GCDH gene Gene mutation |
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| 中文摘要: |
| 目的回顾性分析 5例确诊戊二酸血症 Ⅰ型病儿临床特点及戊二酰辅酶 A脱氢酶( GCDH)基因突变情况，为临床诊治提供参考依据及产前诊断提供借鉴。方法回顾性分析山西省儿童医院 2019年 1月至 2022年 12月收治及随访的 5例戊二酸血症 Ⅰ型病儿临床资料及基因检测结果。结果 5例病儿中男 4例，女 1例， 5例病儿就诊年龄分别为 8个月 26 d、3个月 24 d、4个月 8d、10个月 25 d、1个月 5d。5例病儿的临床表型各异。 3例经新生儿筛查确诊， 2例因运动发育落后经遗传代谢病检测确诊，其中 1例以抽搐为首发症状， 2例出现运动发育落后且 1例伴有运动发育倒退。 5例病儿血戊二酰肉碱及比值均升高、尿戊二酸水平均增高。基因检测证实 5例病儿均为复合杂合突变，以错义突变为主。结论 5例病儿中有 3例病儿是通过新生儿疾病筛查发现的，新生儿串联质谱筛查可以对于戊二酸血症病儿的早期诊断、早期治疗及预后具有重要的意义；戊二酸血症 Ⅰ型病儿临床表现具有明显异质性，对临床可疑的病儿可进行血串联质谱检测、尿气相色谱分析及基因检测，以便进行早期严格的干预治疗及饮食管理，从而改善预后；此外，该研究发现了 1个新的 GCDH基因突变位点，丰富了 GCDH基因的突变谱。 |
| 英文摘要: |
| Objective To retrospectively analyze the clinical characteristics and GCDH gene mutations in 5 cases of diagnosis of glu-taric acidemia type I , and providing reference for clinical diagnosis and treatment and prenatal diagnosis. Methods Retrospectiveanalysis of clinical data and genetic testing results of five children with glutaric acidemia type I admitted and followed up in ShanxiChildren's Hospital from January 2019 to December2022.Results Among the 5 patients, 4 were male and 1 was female, and 5 pa-tients were diagnosed on 8 month 26 days, 3 month 24 days, 4 month 8 days, 10 month 25 days, and 1 month 5 days. The clinical sur-face shapes of 5 patients were different. Three cases were confirmed by neonatal screening, and 2 cases were confirmed by genetic meta-bolic disease due to motor retardation.Among them, one of the first symptoms of convulsions,2 cases developed backward and 1 casewas accompanied by motor regression.The Blood glutaryl carnitine and ratio of 5 patients were elevated, and urinary glutaric acid levelswere increased.The genetic testing confirmed that all five patients were compound and heterozygous mutations, mainly missense muta-tions.Conclusions Of the five patients, 3 patients were discovered by neonatal disease screening. Neonatal tandem mass spectrometryscreening can be of great significance for early diagnosis, early treatment, and prognosis of children with glutaric acidemia;The clinicalpresentation of glutaric acidemia type I patients is markedly heterogeneous. Patients with suspicious clinical children can performblood tandem mass spectrometry, urine gas chromatography and genetic testing in order to perform early strict intervention therapy anddietary management, thereby improving the prognosis. In addition, one new GCDH gene mutation site was identified in this study,which enriched the mutation spectrum of GCDH gene. |
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