摘要
报道1例线粒体糖尿病伴慢性遗传性胰腺炎复合突变家系。1名18岁女性"在家自测血糖升高"伴长期上腹部疼痛就诊,详细收集临床资料和追溯家族史,进行线粒体基因测序及全外显子基因测序,发现先证者携带mt.3243A>G杂质性突变和SPINK1 c.194+2T>C杂合突变,考虑为线粒体糖尿病伴慢性胰腺炎。
This study reported a family of mitochondrial diabetes mellitus complicated with chronic hereditary pancreatitis.A 18-year-old woman presented with self-reported hyperglycemia and chronic epigastric pain was admitted to our hospital.Clinical data and family history were collected.Mitochondrial gene sequencing and whole exon gene sequencing showed that the proband carried mutation of mt.3243A>G and heterozygous mutation of SPINK1 c.194+2T>C,which was considered as mitochondrial diabetes mellitus with chronic pancreatitis.
作者
彭慧芳
付留俊
杨昆木
强军
陈殿森
刘婕
贾竹敏
张颖裕
胡可嫣
姜宏卫
Peng Huifang;Fu Liujun;Yang Kunmu;Qiang Jun;Chen Diansen;Liu Jie;Jia Zhumin;Zhang Yingyu;Hu Keyan;Jiang Hongwei(Department of Endocrinology and Metabolism,The First Affiliated Hospital,and College of Clinical Medicine of Henan University of Science and Technology,Luoyang City Clinical Research for Endocrinology and Metabolism,Medical Key Laboratory of Hereditary Rare Diseases of Henan,Luoyang 471003,China;Hubin Branch of Sanmenxia Central Hospital,Sanmenxia 472000,China;Medical Imaging Center,The First Affiliated Hospital,and College of Clinical Medicine of Henan University of Science and Technology,Luoyang 471003,China)
出处
《中华内分泌代谢杂志》
CAS
CSCD
北大核心
2021年第8期752-756,共5页
Chinese Journal of Endocrinology and Metabolism
基金
河南省省直医疗机构服务能力提升工程建设项目(2017)
河南省医学教育研究项目(Wjlx2020466)。
关键词
线粒体糖尿病
慢性遗传性胰腺炎
SPINK1基因
复合突变
Mitochondrial diabetes mellitus
Chronic hereditary pancreatitis
SPINK1 gene
Compound mutation Contributor Information
