肝细胞核因子4α基因突变致青少年起病的成人型糖尿病一例报道并文献复习
A Case Report and Literature Review of Hepatocyte Nuclear Factor 4α Gene Mutation Leading to Maturity-Onset Diabetes of the Young
吴雨琼 1储祥玲 1黄有烨 2孙莉 1姜天 1章秋 1胡红琳1
作者信息
- 1. 230000 安徽省合肥市，安徽医科大学第一附属医院内分泌代谢科
- 2. 241000 安徽省芜湖市，皖南医学院附属弋矶山医院内分泌代谢科
- 折叠
摘要
青少年起病的成人型糖尿病（MODY）是一组由胰岛素分泌、合成或作用等相关基因缺陷引起的一类特殊类型糖尿病，占糖尿病患者的1%~5%，是最常见的单基因糖尿病。本文报道了1例就诊于安徽医科大学第一附属医院内分泌代谢科的糖尿病患者，经基因检测证实为肝细胞核因子4α（HNF4A）基因c.334（exon4）C>T（p.Arg112Trp）突变所致，从而明确诊断MODY1的诊治过程并复习相关文献。由于MODY1患病率低，此次报道该家系扩展了MODY1的基因突变谱，有助于提高临床医生对该病的认识，从而促进对MODY的精准诊断，精准分型和精准治疗。
Abstract
Maturity-onset diabetes of the youngMODYis a distinct class of diabetes mellitus characterized by a heterogeneous group of monogenic disorders caused by genetic defects primarily affecting insulin secretionsynthesisor action mechanismsaccounting for 1%-5% of diabetic patients. It is the most common form of monogenic diabetes. This article reports a case of diabetes diagnosed in the Department of Endocrinology and Metabolism at the First Affiliated Hospital of Anhui Medical University. Genetic testing revealed a mutation in the hepatocyte nuclear factor 4HNF4Agenespecifically c.334 exon4C>Tp.Arg112Trpleading to a definitive diagnosis of MODY1. The diagnostic and treatment process of this case is describedalong with a review of relevant literature. Given the low prevalence of MODY1this report of a family case expands the spectrum of known HNF4A gene mutationswhich may enhance clinicians' understanding of the disease. Thisin turncan promote precise diagnosisclassificationand treatment of MODY.关键词
成人隐匿性自身免疫性糖尿病/青少年起病的成人型糖尿病/肝细胞核因子 4α/糖尿病/基因突变/基因诊断引用本文复制引用
吴雨琼,储祥玲,黄有烨,孙莉,姜天,章秋,胡红琳.肝细胞核因子4α基因突变致青少年起病的成人型糖尿病一例报道并文献复习[EB/OL].(2026-05-21)[2026-05-22].https://chinaxiv.org/abs/202605.00143.学科分类
临床医学/内科学
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