| 摘要: |
| [摘要]目的：探讨极长链酰基辅酶A脱氢酶缺乏症(VLCADD)的临床表现、实验室检查、诊治转归以及临床类型与基因型之间的关系。方法：选取2013年6月至2019年6月在我院通过新生儿筛查与临床确诊的VLCADD患儿共16例，回顾性分析患儿临床表现、实验室检查和基因型。结果：16例患儿中男5例，女11例，年龄7个月~10岁。临床类型：心肌型3例（18.75%），肝型5例（31.25%），肌型7例（43.75%），1例失访。心肌型患儿3例均死亡，肝型患儿2例死亡，肌型目前无死亡病例。16例患儿共检出28种不同的基因型，12种为未报道新突变。28种基因型中点突变24种，小片段缺失3种，单碱基插入1种。结论：VLCADD重型患儿起病早而危重，即使新生儿筛查早期诊断也难以扭转结局。基因型中至少带一个无效等位基因或引起框移的突变提示临床类型可能偏重。 |
| 关键词: 极长链酰基辅酶A脱氢酶缺乏症 新生儿筛查 临床分型 基因型 |
| DOI：doi:10.13407/j.cnki.jpp.1672-108X.2020.09.003 |
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| 基金项目:国家重点研发计划,编号2018YFC1002200;浙江省卫计委科研项目,编号2014KYA258。 |
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| Clinical and Genotype Analysis of 16 Cases of Very Long Chain Acyl-CoA Dehydrogenase Deficiency |
| Qian Guling, Hong Fang, Tong Fan, Wu Dingwen, Xu Yanhua, Huang Xinwen, Yang Rulai |
| (The Children’s Hospital, Zhejiang University School of Medicine, National Center for Clinical Medicine of Children’s Health and Disease, Zhejiang Hangzhou 310003, China) |
| Abstract: |
| [Abstract] Objective: To probe into the clinical manifestation, laboratory examination, diagnosis and treatment outcome of very long-chain acyl-CoA dehydrogenase deficiency (VLCADD), and the relationship between clinical phenotype and genotype. Methods: A total of 16 children with VLCADD after neonatal screening and clinical diagnosis in our hospital from Jun. 2013 to Jun. 2019 were extracted. Clinical manifestation, laboratory examination and genotype were retrospectively analyzed. Results: Among the 16 cases, there were 5 males and 11 females, aged from 7 months to 10 years. There were 3 cases (18.75%) of myocardial type, 5 cases (31.25%) of liver type, 7 cases (43.75%) of muscular type, and 1 case was lost to follow-up. There were 3 children with myocardial type died, 2 children with liver type died, and there was no death for muscular type. A total of 28 different genotypes were detected in 16 children, and 12 of them were unreported new mutations. Among the 28 genotypes, there are 24 point mutations, 3 small fragment deletions, and 1 single base insertion. Conclusion: VLCADD in severe children are start early and with critical onset, and it is difficult to reverse the outcome even if the baby was early diagnosed through neonatal screening. A variant with at least one null allele or a frame shift in the genotype may indicate a serious phenotype. |
| Key words: very long-chain acyl-CoA dehydrogenase deficiency neonatal screening clinical phenotype genotype |
