Finding the needle in the haystack: how to identify monogenic diabetes in the paediatric clinic

Published:November 06, 2021DOI:https://doi.org/10.1016/j.paed.2021.10.007

      Abstract

      Diabetes mellitus is a common long-term childhood condition, which paediatricians, allied healthcare professionals and paediatric trainees will encounter frequently. General or acute paediatric trainees will be involved in treatment initiation, requesting appropriate investigations and continued management. The vast majority of children with diabetes have type 1 diabetes mellitus (T1DM) and the minority have type 2 diabetes mellitus (T2DM) or monogenic causes (also known as maturity-onset diabetes of the young). Individuals with T1DM tend to present more acutely and may be unwell with diabetic ketoacidosis. Those with T2DM and MODY usually present less acutely. However, there is considerable overlap in the clinical features, which may lead to diagnostic uncertainty. It is essential to clarify the subtype of diabetes mellitus as this allows tailored management including education, lifestyle modifications, medication and appropriate family counselling. In this review, we consider three adolescents presenting with symptoms and signs of diabetes, highlight the key features of different types of MODY and consider their differential diagnoses.

      Keywords

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      Further reading

      1. Diabetes Genes website, www.diabetesgenes.org.

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