Background Agenesis of the dorsal pancreas (ADP) is a rare disease, the pathogenic mechanism of which is partially related to variants of hepatocyte nuclear factor 1B (HNF1B) gene. Case Presentation We report a case of ADP, which presented with acute ketoacidosis, hyperuricemia, and liver dysfunction. In this case, the HNF1B score was estimated as 16 and a heterozygous variant of HNF1B in exon 2 (c.513G>A-p.W171X) was identified through gene sequencing. Conclusions A good understanding of the clinical comorbidities of ADP is essential for avoiding missed diagnosis to a great extent. Moreover, estimation of HNF1B score is recommended before genetic testing.
基金：
Bethune.Merck Diabetes Research Fund [2018]; Cardiac rehabilitation and metabolic therapy research fund [2018]
第一作者单位：[1]Huazhong Univ Sci & Technol, Tongji Hosp, Div Endocrinol, Wuhan, Peoples R China[2]Yangtze Univ, Renmin Hosp,Wuhan Univ, Qianjiang Cent Hosp Hubei Prov,Qianjiang Hosp, Qianjiang Clin Med Coll,Div Endocrinol,Hlth Sci C, Qianjiang, Peoples R China
通讯作者：
通讯机构：[1]Huazhong Univ Sci & Technol, Tongji Hosp, Div Endocrinol, Wuhan, Peoples R China[3]Branch Natl Clin Res Ctr Metab Dis, Wuhan, Peoples R China
推荐引用方式(GB/T 7714)：
Guo Mei,Xu Qinqin,Yu Xuefeng,et al.Association of Agenesis of the Dorsal Pancreas With HNF1B Heterozygote Mutation: A Case Report[J].FRONTIERS IN ENDOCRINOLOGY.2021,12:doi:10.3389/fendo.2021.640006.
APA：
Guo, Mei,Xu, Qinqin,Yu, Xuefeng,Yang, Qin&Shao, Shiying.(2021).Association of Agenesis of the Dorsal Pancreas With HNF1B Heterozygote Mutation: A Case Report.FRONTIERS IN ENDOCRINOLOGY,12,
MLA：
Guo, Mei,et al."Association of Agenesis of the Dorsal Pancreas With HNF1B Heterozygote Mutation: A Case Report".FRONTIERS IN ENDOCRINOLOGY 12.(2021)
