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

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 dysfunct...

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Detalles Bibliográficos
Autores principales: Guo, Mei, Xu, Qinqin, Yu, Xuefeng, Yang, Qin, Shao, Shiying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8554068/
https://www.ncbi.nlm.nih.gov/pubmed/34721285
http://dx.doi.org/10.3389/fendo.2021.640006
Descripción
Sumario: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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