“Nurse Margaret Helen Shepherd Sheds Light on Monogenic Diabetes in Children and Young Adults”
Published: Thu 9 Nov 2023, 7:48 PM
Monogenic diabetes, caused by a change in a single gene, affects approximately 3.6 per cent of individuals diagnosed below the age of 25 years. According to Nurse Margaret Helen Shepherd, Genetic testing is essential as it can ensure an accurate diagnosis, impact treatment, recognize associated features, and enable follow-up of family members. Shepherd reveals that around 80 per cent of monogenic diabetes cases are initially misdiagnosed as Type 1 diabetes due to the young age of diagnosis.
The types of monogenic diabetes can be broadly separated into three groups: neonatal diabetes diagnosed within six months of life; diabetes diagnosed below 25 years of age, usually with an affected parent or child (Maturity Onset Diabetes of the Young), and young onset diabetes associated with other syndromic features.
Shepherd noted that monogenic diabetes cases are often characterized by an autosomal dominant inheritance, where diabetes is passed down from an affected parent to their child, with each child at a 50 per cent risk of inheriting the affected gene. However, cases of neonatal diabetes and around 50 per cent of cases of HNF1B MODY can occur ‘de-novo’. Genetic testing allows for the identification of the gene affected, enabling appropriate genetic counselling for other family members.
Each type of monogenic diabetes has unique clinical characteristics and treatment requirements. GCK MODY is characterized by mild, stable hyperglycemia which needs no treatment, while HNF1A MODY is typically present in adolescence or young adulthood and can be best managed by tablets. On the other hand, HNF1B MODY is characterized by renal developmental disorders in addition to diabetes and requires insulin treatment along with other interventions.
Shepherd emphasized that genetic testing is indispensable for identifying monogenic diabetes and the specific gene mutations. It plays a crucial role in tailoring treatment plans, recognizing associated features, and providing genetic counselling for affected individuals and their families. The article is authored by Nurse Margaret Helen Shepherd, a distinguished winner of the 2nd edition of the Aster Guardians Global Nursing Award.
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