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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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
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author Guo, Mei
Xu, Qinqin
Yu, Xuefeng
Yang, Qin
Shao, Shiying
author_facet Guo, Mei
Xu, Qinqin
Yu, Xuefeng
Yang, Qin
Shao, Shiying
author_sort Guo, Mei
collection PubMed
description 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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spelling pubmed-85540682021-10-30 Association of Agenesis of the Dorsal Pancreas With HNF1B Heterozygote Mutation: A Case Report Guo, Mei Xu, Qinqin Yu, Xuefeng Yang, Qin Shao, Shiying Front Endocrinol (Lausanne) Endocrinology 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. Frontiers Media S.A. 2021-10-15 /pmc/articles/PMC8554068/ /pubmed/34721285 http://dx.doi.org/10.3389/fendo.2021.640006 Text en Copyright © 2021 Guo, Xu, Yu, Yang and Shao https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Endocrinology
Guo, Mei
Xu, Qinqin
Yu, Xuefeng
Yang, Qin
Shao, Shiying
Association of Agenesis of the Dorsal Pancreas With HNF1B Heterozygote Mutation: A Case Report
title Association of Agenesis of the Dorsal Pancreas With HNF1B Heterozygote Mutation: A Case Report
title_full Association of Agenesis of the Dorsal Pancreas With HNF1B Heterozygote Mutation: A Case Report
title_fullStr Association of Agenesis of the Dorsal Pancreas With HNF1B Heterozygote Mutation: A Case Report
title_full_unstemmed Association of Agenesis of the Dorsal Pancreas With HNF1B Heterozygote Mutation: A Case Report
title_short Association of Agenesis of the Dorsal Pancreas With HNF1B Heterozygote Mutation: A Case Report
title_sort association of agenesis of the dorsal pancreas with hnf1b heterozygote mutation: a case report
topic Endocrinology
url 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
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