青少年的成人起病型糖尿病2型和3型混合家系一例临床分析并文献复习

Co-inheritance of maturity-onset diabetes of the young 2 and 3 mutations in the same family:a case report and literature review

目的探究葡萄糖激酶基因(GCK)及肝细胞核因子1α基因(HNF-1α)同时突变致青少年的成人起病型糖尿病(MODY)的临床和遗传学特点。方法对北京协和医院2017年9月诊断的一例MODY患者及其家系的临床特征、实验室资料进行分析;对家系成员进行MODY相关致病基因检测。结果该家系的5名成员检测到GCK基因(NM_000162)c.686C>T(p.Thr229Met)杂合突变。其中3名成员同时检测到HNF-1α基因(NM_001306179)c.1531C>G(p.Gln511Glu)杂合突变。结论MODY混合家系GCK及HNF-1α基因突变导致同一家系出现不同的MODY类型。诊断时需考虑混合家系的可能性,以准确诊断。

Objective To explore the clinical and genetic characteristics of maturity-onset diabetes of the young(MODY)induced by co-inheritance of hepatocyte nuclear factor 1α(HNF-1α)and glucokinase(GCK)gene mutations.Methods A case of maturity-onset diabetes of the young diagnosed in Peking Union Medical College Hospital in September 2017 was analyzed for the clinical characteristics and laboratory examinations.Mutations linked to MODY were identified in proband and his family.Results A heterozygous mutation in GCK gene(NM_000162)c.686C>T(p.Thr229Met)was identified in 5 members of the family.Mutation in HNF-1αc.1531C>G(p.Gln511Glu)was identfied in 3 of them.Conclusion Carriers of both GCK and HNF-1αmutations cause coexistence of different genotypes in the same family.Co-inheritance of MODY 2 and MODY 3 mutations should be considered for accurate diagnosis.