Increased Liver Enzymes: An Under-Recognized Finding in Maturity-Onset Diabetes of the Young Type 5 (MODY 5)

Maturity-onset diabetes of the young type 5 (MODY 5) is characterized by a single gene mutation in the HNF1B gene. This frequently leads to insulin resistance and presents as young-onset diabetes. Other manifestations can occur in organs expressing hepatocyte nuclear factor-1 beta. This case report...

Descripción completa

Detalles Bibliográficos
Autores principales: Veerareddy, Sudiksha, Reddy, Saigopala, Barreto, Mauricio, Vedherey, Niharika, Gopalareddy, Vani V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10550013/
https://www.ncbi.nlm.nih.gov/pubmed/37799485
http://dx.doi.org/10.14309/crj.0000000000001150
_version_ 1785115442450268160
author Veerareddy, Sudiksha
Reddy, Saigopala
Barreto, Mauricio
Vedherey, Niharika
Gopalareddy, Vani V.
author_facet Veerareddy, Sudiksha
Reddy, Saigopala
Barreto, Mauricio
Vedherey, Niharika
Gopalareddy, Vani V.
author_sort Veerareddy, Sudiksha
collection PubMed
description Maturity-onset diabetes of the young type 5 (MODY 5) is characterized by a single gene mutation in the HNF1B gene. This frequently leads to insulin resistance and presents as young-onset diabetes. Other manifestations can occur in organs expressing hepatocyte nuclear factor-1 beta. This case report highlights family members with MODY 5 presenting with increased liver enzymes with no etiology. The siblings and their mother had a point mutation p.Arg235Trp in HNF1B gene located at 17q12. This variant is associated with autosomal dominant MODY 5 with renal cysts also known as renal cysts and diabetes syndrome.
format Online
Article
Text
id pubmed-10550013
institution National Center for Biotechnology Information
language English
publishDate 2023
publisher Wolters Kluwer
record_format MEDLINE/PubMed
spelling pubmed-105500132023-10-05 Increased Liver Enzymes: An Under-Recognized Finding in Maturity-Onset Diabetes of the Young Type 5 (MODY 5) Veerareddy, Sudiksha Reddy, Saigopala Barreto, Mauricio Vedherey, Niharika Gopalareddy, Vani V. ACG Case Rep J Case Report Maturity-onset diabetes of the young type 5 (MODY 5) is characterized by a single gene mutation in the HNF1B gene. This frequently leads to insulin resistance and presents as young-onset diabetes. Other manifestations can occur in organs expressing hepatocyte nuclear factor-1 beta. This case report highlights family members with MODY 5 presenting with increased liver enzymes with no etiology. The siblings and their mother had a point mutation p.Arg235Trp in HNF1B gene located at 17q12. This variant is associated with autosomal dominant MODY 5 with renal cysts also known as renal cysts and diabetes syndrome. Wolters Kluwer 2023-10-03 /pmc/articles/PMC10550013/ /pubmed/37799485 http://dx.doi.org/10.14309/crj.0000000000001150 Text en © 2023 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of The American College of Gastroenterology. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND) (https://creativecommons.org/licenses/by-nc-nd/4.0/) , where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.
spellingShingle Case Report
Veerareddy, Sudiksha
Reddy, Saigopala
Barreto, Mauricio
Vedherey, Niharika
Gopalareddy, Vani V.
Increased Liver Enzymes: An Under-Recognized Finding in Maturity-Onset Diabetes of the Young Type 5 (MODY 5)
title Increased Liver Enzymes: An Under-Recognized Finding in Maturity-Onset Diabetes of the Young Type 5 (MODY 5)
title_full Increased Liver Enzymes: An Under-Recognized Finding in Maturity-Onset Diabetes of the Young Type 5 (MODY 5)
title_fullStr Increased Liver Enzymes: An Under-Recognized Finding in Maturity-Onset Diabetes of the Young Type 5 (MODY 5)
title_full_unstemmed Increased Liver Enzymes: An Under-Recognized Finding in Maturity-Onset Diabetes of the Young Type 5 (MODY 5)
title_short Increased Liver Enzymes: An Under-Recognized Finding in Maturity-Onset Diabetes of the Young Type 5 (MODY 5)
title_sort increased liver enzymes: an under-recognized finding in maturity-onset diabetes of the young type 5 (mody 5)
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10550013/
https://www.ncbi.nlm.nih.gov/pubmed/37799485
http://dx.doi.org/10.14309/crj.0000000000001150
work_keys_str_mv AT veerareddysudiksha increasedliverenzymesanunderrecognizedfindinginmaturityonsetdiabetesoftheyoungtype5mody5
AT reddysaigopala increasedliverenzymesanunderrecognizedfindinginmaturityonsetdiabetesoftheyoungtype5mody5
AT barretomauricio increasedliverenzymesanunderrecognizedfindinginmaturityonsetdiabetesoftheyoungtype5mody5
AT vedhereyniharika increasedliverenzymesanunderrecognizedfindinginmaturityonsetdiabetesoftheyoungtype5mody5
AT gopalareddyvaniv increasedliverenzymesanunderrecognizedfindinginmaturityonsetdiabetesoftheyoungtype5mody5

Ejemplares similares