Open Access全外显子组测序在糖尿病酮症酸中毒、高三酰甘油血症和急性胰腺炎三联征患者中发现三个新的基因突变
Author(s) -
Huang Zixi,
Xu Zhenyan,
Xu Ruoqing,
Huang Lin,
Xu Xiang,
Lai Xiaoyang
Publication year - 2021
Publication title -
journal of diabetes
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.949
H-Index - 43
eISSN - 1753-0407
pISSN - 1753-0393
DOI - 10.1111/1753-0407.13100
Subject(s) - medicine , plasmapheresis , hypertriglyceridemia , acute pancreatitis , diabetic ketoacidosis , gastroenterology , missense mutation , diabetes mellitus , pancreatitis , endocrinology , triglyceride , immunology , mutation , cholesterol , genetics , biology , antibody , gene
Background This study aimed to analyze the genetics and treatments of the patients with the triad of diabetic ketoacidosis (DKA), hypertriglyceridemia, and acute pancreatitis (AP). Methods We conducted a retrospective study of six patients with the triad of AP, hypertriglyceridemia, and DKA at our hospital. All patients underwent plasmapheresis as part of their treatment. The clinical characteristics of the patients were obtained from the hospital information system and analyzed. Whole exome sequencing was performed using samples of one patient (case 6) and his family members. Results The average triglyceride level before plasmapheresis was 3282.17 ± 2975.43 mg/dL (range: 1646‐9332 mg/dL). The triglyceride levels dropped by approximately 80% after plasmapheresis. None of the patients developed complications related from plasmapheresis. During follow‐up, patients 5 and 6 developed recurrent pancreatitis for several times and showed the formation of pancreatic pseudocysts. We identified three novel heterozygous missense mutations in the family of patient 6, including c.12614C > T (p.Pro4205Leu) in APOB , c.160G > C (p.Glu54Gln) in CILP2 , and c.1199C > A (p.Ala400Glu) in PEPD . Conclusions Three novel heterozygous missense mutations, including c.12614C > T (p.Pro4205Leu) in APOB , c.160G > C (p.Glu54Gln) in CILP2 , and c.1199C > A (p.Ala400Glu) in PEPD were first identified in a patient with the triad of DKA, hypertriglyceridemia, and AP. The combination of plasmapheresis, hydration, and insulin therapy may have the greatest clinical benefits for these patients.