中国青少年的成人起病型糖尿病1型一例家系研究

目的探讨中国青少年的成人起病型糖尿病1型（MODY1）患者的临床特点和分子遗传学特征。方法对北京协和医院于2015年8月诊断的1例MODY患者家系的临床特征、实验室资料进行分析，运用Sanger测序技术对先证者及相关家系成员进行肝细胞核因子（HNF）1α基因、HNF4α基因、葡萄糖激酶（GCK）基因测序。结果在该家系的2名家系成员（先证者及其母亲）中检测到HNF4α基因（NM_000457．4）第8号外显子c．992G〉A（p．R331H）杂合突变。对基因诊断明确为MODY1型的先证者进行小剂量磺脲类药物替代胰岛素转换治疗，患者血糖控制更加平稳。结论中国人群中存在HNF4α基因突变导致的MOD...

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Bibliographic Details
Published in中华糖尿病杂志 Vol. 8; no. 6; pp. 337 - 341
Main Author 王彤 阳洪波 齐翠娟 于淼 许建萍 饶翀 王晓晶 郑佳 张茜 肖新华
Format Journal Article
LanguageChinese
Published 100730中国医学科学院北京协和医学院北京协和医院内分泌科卫生部内分泌重点实验室 2016
Subjects
基因突变
磺脲类药物
肝细胞核因子4α
青少年的成人起病型糖尿病
青少年的成人起病型糖尿病
Gene mutation
Sulfonylurea
Hepatocyte nuclear factor-4α
磺脲类药物
Maturity onset diabetes of the young
肝细胞核因子4α
基因突变
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ISSN1674-5809
DOI10.3760/cma.j.issn.1674-5809.2016.06.005

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Summary:目的探讨中国青少年的成人起病型糖尿病1型（MODY1）患者的临床特点和分子遗传学特征。方法对北京协和医院于2015年8月诊断的1例MODY患者家系的临床特征、实验室资料进行分析，运用Sanger测序技术对先证者及相关家系成员进行肝细胞核因子（HNF）1α基因、HNF4α基因、葡萄糖激酶（GCK）基因测序。结果在该家系的2名家系成员（先证者及其母亲）中检测到HNF4α基因（NM_000457．4）第8号外显子c．992G〉A（p．R331H）杂合突变。对基因诊断明确为MODY1型的先证者进行小剂量磺脲类药物替代胰岛素转换治疗，患者血糖控制更加平稳。结论中国人群中存在HNF4α基因突变导致的MODY1型家系。MODY可能与2型糖尿病混合存在于同一家系内，容易被误诊，需要引起重视。
Bibliography:Wang Tong, Yang Hongbo, Qi Cuijuan, Yu Miao, Xu Jianping, Rao Chong, Wang Xiaojing, Zheng Jia, Zhang Qian, Xiao Xinhua.（ Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Diabetes Research Center of Chinese Academy of Medical Sciences ＆ Peking Union Medical College, Beijing 100730, China ）
Objective To investigate the clinical and genetic characteristics of a Chinese pedigree with maturity onset diabetes of the young type I（MODY 1）. Methods A Chinese pedigree of MODY diagnosed in Peking Union Medical College Hospital in August 2015 was analyzed for the clinical features and laboratory data. Genomic DNA of related members in the pedigree were extracted. And Sanger sequencing was performed to identify mutations in hepatoeyte nuclear factor （HNF）1α gene, HNF4α gene and glucokinase （GCK） gene in this pedigree. Results A heterozygous mutation in HNF4α gene （NM_ 000457.4） located in the exon 8 （c.992G〉A; p.R331H） was identified in two members of
ISSN:1674-5809
DOI:10.3760/cma.j.issn.1674-5809.2016.06.005