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Association of Agenesis of the Dorsal Pancreas With HNF1B Heterozygote Mutation: A Case Report

ABSTRACT:

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.

SUBMITTER: Guo M

PROVIDER: S-EPMC8554068 | biostudies-literature |

REPOSITORIES: biostudies-literature

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