Cargando…

HNF1B-MODY Masquerading as Type 1 Diabetes: A Pitfall in the Etiological Diagnosis of Diabetes

Hepatocyte nuclear factor-1B (HNF1B) maturity-onset diabetes of the young (MODY), also referred to as “renal cysts and diabetes syndrome” or MODY-5, is a rare form of monogenic diabetes that is caused by a deletion or a point mutation in the HNF1B gene, a developmental gene that plays a key role in...

Descripción completa

Detalles Bibliográficos
Autores principales: Francis, Youmna, Tiercelin, Clarisse, Alexandre-Heyman, Laure, Larger, Etienne, Dubois-Laforgue, Danièle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9206723/
https://www.ncbi.nlm.nih.gov/pubmed/35733830
http://dx.doi.org/10.1210/jendso/bvac087
_version_ 1784729394212765696
author Francis, Youmna
Tiercelin, Clarisse
Alexandre-Heyman, Laure
Larger, Etienne
Dubois-Laforgue, Danièle
author_facet Francis, Youmna
Tiercelin, Clarisse
Alexandre-Heyman, Laure
Larger, Etienne
Dubois-Laforgue, Danièle
author_sort Francis, Youmna
collection PubMed
description Hepatocyte nuclear factor-1B (HNF1B) maturity-onset diabetes of the young (MODY), also referred to as “renal cysts and diabetes syndrome” or MODY-5, is a rare form of monogenic diabetes that is caused by a deletion or a point mutation in the HNF1B gene, a developmental gene that plays a key role in regulating urogenital and pancreatic development. HNF1B-MODY has been characterized by its association with renal, hepatic and other extrapancreatic features. We present the case of a 39-year-old female patient who was first diagnosed with type 1 diabetes, but then, owing to the absence of anti-islet autoantibodies and to the disease’s progression, was labeled later on as having atypical type 2 diabetes. She was finally recognized as having HNF1B-MODY, a diagnosis that had been suggested by the lack of metabolic syndrome and by the presence of unexplained chronically disturbed liver function tests and hypomagnesemia. There was a 10-year delay between the onset of diabetes and the molecular diagnosis. An atypical form of diabetes, especially in patients with multisystem involvement, should raise suspicion for an alternative etiology. A timely diagnosis of HNF1B-MODY is of utmost importance since it can greatly impact diabetes management and disease progression as well as family history.
format Online
Article
Text
id pubmed-9206723
institution National Center for Biotechnology Information
language English
publishDate 2022
publisher Oxford University Press
record_format MEDLINE/PubMed
spelling pubmed-92067232022-06-21 HNF1B-MODY Masquerading as Type 1 Diabetes: A Pitfall in the Etiological Diagnosis of Diabetes Francis, Youmna Tiercelin, Clarisse Alexandre-Heyman, Laure Larger, Etienne Dubois-Laforgue, Danièle J Endocr Soc Case Report Hepatocyte nuclear factor-1B (HNF1B) maturity-onset diabetes of the young (MODY), also referred to as “renal cysts and diabetes syndrome” or MODY-5, is a rare form of monogenic diabetes that is caused by a deletion or a point mutation in the HNF1B gene, a developmental gene that plays a key role in regulating urogenital and pancreatic development. HNF1B-MODY has been characterized by its association with renal, hepatic and other extrapancreatic features. We present the case of a 39-year-old female patient who was first diagnosed with type 1 diabetes, but then, owing to the absence of anti-islet autoantibodies and to the disease’s progression, was labeled later on as having atypical type 2 diabetes. She was finally recognized as having HNF1B-MODY, a diagnosis that had been suggested by the lack of metabolic syndrome and by the presence of unexplained chronically disturbed liver function tests and hypomagnesemia. There was a 10-year delay between the onset of diabetes and the molecular diagnosis. An atypical form of diabetes, especially in patients with multisystem involvement, should raise suspicion for an alternative etiology. A timely diagnosis of HNF1B-MODY is of utmost importance since it can greatly impact diabetes management and disease progression as well as family history. Oxford University Press 2022-06-15 /pmc/articles/PMC9206723/ /pubmed/35733830 http://dx.doi.org/10.1210/jendso/bvac087 Text en © The Author(s) 2022. Published by Oxford University Press on behalf of the Endocrine Society. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs licence (https://creativecommons.org/licenses/by-nc-nd/4.0/), which permits non-commercial reproduction and distribution of the work, in any medium, provided the original work is not altered or transformed in any way, and that the work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle Case Report
Francis, Youmna
Tiercelin, Clarisse
Alexandre-Heyman, Laure
Larger, Etienne
Dubois-Laforgue, Danièle
HNF1B-MODY Masquerading as Type 1 Diabetes: A Pitfall in the Etiological Diagnosis of Diabetes
title HNF1B-MODY Masquerading as Type 1 Diabetes: A Pitfall in the Etiological Diagnosis of Diabetes
title_full HNF1B-MODY Masquerading as Type 1 Diabetes: A Pitfall in the Etiological Diagnosis of Diabetes
title_fullStr HNF1B-MODY Masquerading as Type 1 Diabetes: A Pitfall in the Etiological Diagnosis of Diabetes
title_full_unstemmed HNF1B-MODY Masquerading as Type 1 Diabetes: A Pitfall in the Etiological Diagnosis of Diabetes
title_short HNF1B-MODY Masquerading as Type 1 Diabetes: A Pitfall in the Etiological Diagnosis of Diabetes
title_sort hnf1b-mody masquerading as type 1 diabetes: a pitfall in the etiological diagnosis of diabetes
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9206723/
https://www.ncbi.nlm.nih.gov/pubmed/35733830
http://dx.doi.org/10.1210/jendso/bvac087
work_keys_str_mv AT francisyoumna hnf1bmodymasqueradingastype1diabetesapitfallintheetiologicaldiagnosisofdiabetes
AT tiercelinclarisse hnf1bmodymasqueradingastype1diabetesapitfallintheetiologicaldiagnosisofdiabetes
AT alexandreheymanlaure hnf1bmodymasqueradingastype1diabetesapitfallintheetiologicaldiagnosisofdiabetes
AT largeretienne hnf1bmodymasqueradingastype1diabetesapitfallintheetiologicaldiagnosisofdiabetes
AT duboislaforguedaniele hnf1bmodymasqueradingastype1diabetesapitfallintheetiologicaldiagnosisofdiabetes