| 李园,刘英,杨威,等.CPT1A基因单亲二倍体纯合突变致肉碱棕榈酰转移酶 1A缺乏症 1例临床特征及遗传学分析[J].安徽医药,2026,30(5):948-951. |
| CPT1A基因单亲二倍体纯合突变致肉碱棕榈酰转移酶 1A缺乏症 1例临床特征及遗传学分析 |
| A case of carnitine palmitoyl transferase 1A deficiency caused by a homozygous mutation with uniparental disomy of the CPT1A gene: clinical features and genetic analysis |
| |
| DOI：10.3969/j.issn.1009-6469.2026.05.020 |
| 中文关键词: 肉碱棕榈酰转移酶 1A缺乏症 CPT1A基因 单亲二倍体 常染色隐性遗传性疾病 血液酰基肉碱谱 基因检测 |
| 英文关键词: Carnitine palmitoyl transferase 1A deficiency CPT1A gene Uniparental disomy Autosomal recessive genetic disor. der Blood acylcarnitine profiling Genetic detection |
| 基金项目:河南省科技发展计划( 232102311109) |
|
| 摘要点击次数: 203 |
| 全文下载次数: 58 |
| 中文摘要: |
| 目的探讨由 CPT1A基因单亲二倍体( UPD)纯合突变致肉碱棕榈酰转移酶 1A缺乏症( CPT1AD)病儿的临床特征及遗传学分析。方法收集 1例在河南省儿童医院诊断为 CPT1AD病儿的临床资料、实验室检查及基因检测结果。结果病儿临床表现为感染诱发的低酮性低血糖、抽搐发作，辅助检查提示存在肝肾功能异常、甘油三酯升高、激酶升高、肝脏肿大等，血液酰基肉碱谱提示 C0、C0/(C16+C18)明显升高。基因测序结果显示 CPT1A基因存在 2个纯合突变， c.727C>T(p.Arg243*)为致病性变异， c.1165G>A(p.Val389Ile)为临床意义未明。纯合性区域( ROH)及 Sanger测序分析提示为母源片段性单亲二倍体(UPD)，国内外均未见报道。结论 CPT1AD由 CPT1A基因变异所致，是一种罕见的常染色隐性遗传性疾病，在临床上易误诊及漏诊，血液酰基肉碱谱及基因检测有助于早期诊断及治疗，显著改善预后。 |
| 英文摘要: |
| Objective To investigate the clinical features and perform genetic analysis of a child with carnitine palmitoyl transferase1A deficiency (CPT1AD) caused by a homozygous mutation with uniparental disomy (UPD) of the CPT1A gene.Methods The clinical data, laboratory tests and genetic results of a child diagnosed with CPT1AD in He'nan Children's Hospital were collected for the study.Results The clinical manifestations of the child were infection-induced hypoketotic hypoglycemia and convulsive seizures. Laborato.ry tests suggested abnormal liver and kidney functions, elevated triglycerides and kinases, hepatomegaly, etc. The blood acylcarnitineprofiling showed that C0 and C0/(C16 + C18) were significantly increased. Gene sequencing results indicated that CPT1A gene had twohomozygous variations, c.727C>T (p.Arg243*) as a pathogenic variant, and c.1165G>A (p.Val389Ile) as an uncertain variant. Regionsof homozygosity (ROH) and Sanger sequencing analysis suggested a maternal segmental UPD, which has not been reported domesticallyand internationally.Conclusions CPT1AD is a rare autosomal recessive genetic disorder caused by CPT1A gene variation, which isprone to misdiagnosis and missed diagnosis in clinical practice. Blood acylcarnitine profiling and genetic detection are helpful for earlydiagnosis and treatment, and significantly improve the prognosis. |
|
查看全文
查看/发表评论 下载PDF阅读器 |
| 关闭 |
