Monogenic diabetes – an unappreciated problem among physicians

Authors

  • Elżbieta Niechciał Department of Pediatric Diabetes and Obesity, Poznan University of Medical Sciences, Poland
  • Bogda Skowrońska Department of Pediatric Diabetes and Obesity, Poznan University of Medical Sciences, Poland
  • Anna Gertig-Kolasa Department of Pediatric Diabetes and Obesity, Poznan University of Medical Sciences, Poland
  • Izabela Krzyśko Department of Pediatric Diabetes and Obesity, Poznan University of Medical Sciences, Poland
  • Piotr Fichna Department of Pediatric Diabetes and Obesity, Poznan University of Medical Sciences, Poland

DOI:

https://doi.org/10.20883/medical.e57

Keywords:

monogenic diabetes, prevalence, diagnosis, treatment

Abstract

Monogenic diabetes results from one or more mutations in a single gene. It is a relatively rare genetic condition, therefore, it was frequently unappreciated among clinicians. Consequently, monogenic diabetes is misdiagnosed as type 1 diabetes or type 2 diabetes. Such misclassification leads to an inappropriate treatment, often inconvenient for the patients, such as insulin injections with their permanent glycemic control. The correct diagnosis may completely change previous methods of treatment. Patients diagnosed with GCK mutations may be completely treated with adequate diet. HNF1A/HNF4A affected patients are extremely sensitive to low dose sulphonylureas. Moreover, the exact diagnosis has an impact on patients’ relatives. Mostly, misdiagnosing of monogenic diabetes is caused by its rare occurrence and insufficient training in this area among physicians. According to different studies it may comprise 1–4% of all cases of diabetes. The aim of this article is to emphasize that despite the fact that monogenic diabetes is an uncommon disease, it should always be considered in cases of diabetes with unusual course.

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Published

2014-06-30

Issue

Vol. 83 No. 2 (2014)

Section

Review Papers

License

Copyright (c) 2014 Elżbieta Niechciał, Bogda Skowrońska, Anna Gertig-Kolasa, Izabela Krzyśko, Piotr Fichna

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This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

How to Cite

1.
Niechciał E, Skowrońska B, Gertig-Kolasa A, Krzyśko I, Fichna P. Monogenic diabetes – an unappreciated problem among physicians. JMS [Internet]. 2014 Jun. 30 [cited 2024 Nov. 22];83(2):132-7. Available from: https://jms.ump.edu.pl/index.php/JMS/article/view/57