杂合子优势
胰腺
突变
发育不全
遗传学
HNF1B型
医学
联想(心理学)
生物
内科学
等位基因
心理学
基因
转录因子
同源盒
心理治疗师
作者
Mingzhou Guo,Qinqin Xu,Xuefeng Yu,Qin Yang,Shiying Shao
标识
DOI:10.3389/fendo.2021.640006
摘要
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.
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