Report of a pedigree of mitochondrial diabetes mellitus complicated with chronic hereditary pancreatitis

VernacularTitle:线粒体糖尿病伴慢性遗传性胰腺炎复合突变家系报道
Author: Huifang PENG ¹ ; Liujun FU ; Kunmu YANG ; Jun QIANG ; Diansen CHEN ; Jie LIU ; Zhumin JIA ; Yingyu ZHANG ; Keyan HU ; Hongwei JIANG
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1. 河南科技大学临床医学院，河南科技大学第一附属医院内分泌代谢科，洛阳市内分泌代谢病临床医学研究中心，河南省遗传罕见病医学重点实验室　471003
Keywords: Mitochondrial diabetes mellitus; Chronic hereditary pancreatitis; SPINK1 gene; Compound mutation
From: Chinese Journal of Endocrinology and Metabolism 2021;37(8):752-756
CountryChina
Language:Chinese
Abstract: 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.