1.Report of a pedigree of mitochondrial diabetes mellitus complicated with chronic hereditary pancreatitis
Huifang PENG ; Liujun FU ; Kunmu YANG ; Jun QIANG ; Diansen CHEN ; Jie LIU ; Zhumin JIA ; Yingyu ZHANG ; Keyan HU ; Hongwei JIANG
Chinese Journal of Endocrinology and Metabolism 2021;37(8):752-756
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.
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