Clinical Approach of Children with Monogenic Diabetes in Primary Health Care

Background: Monogenic diabetes results from defects in a single gene characterized by impaired function of pancreatic beta cells resulting in moderate to severe hyperglycemia. The prevalence of monogenic diabetes is estimated at 1-3% of the pediatric population with diabetes. The majority of monogenic diabetes are misdiagnosed as type 2 or type 1 diabetes.

Objective: To review the latest research and perspectives on clinical approach of children with monogenic diabetes.

Methods: Literature search on credible sources such as PubMed, NCBI, and Google Scholar with the keywords of “monogenic diabetes” and “children.”

Results: Hypoglycemia and other adverse effects were reported in monogenic diabetes who were misdiagnosed and treated with glucose-lowering therapy, including insulin. Accurate diagnosis is important because it may impact the treatment and influence long‐term complications. However, diagnosis of monogenic diabetes should be considered in primary health care. The findings include diabetes presenting before 6 months of age, mild hyperglycemia or diabetes, diabetes associated with extra-pancreatic features (such as congenital heart or gastrointestinal defects, severe diarrhea, or autoimmune conditions). A detailed pedigree chart drawn for the patient at least three generations of the family showed an autosomal dominant pattern of inheritance. Physical examination found an abnormal distribution of fat with a lack of subcutaneous fat especially in extremities and absence of acanthosis nigricans. To confirm a clinical diagnosis of monogenic diabetes, genetic testing should be done.

Conclusion: History taking, physical examination, and laboratory tests that can be performed in primary health care can be used as a clinical approach to the diagnosis of monogenic diabetes. The findings indicate that the patient suspected of monogenic diabetes should be referred to high-level healthcare facilities to confirm the diagnosis with genetic testing. Therefore, patients with monogenic diabetes can optimized treatment of the specific forms, avoid unnecessary pharmacological treatment, and avoid adverse effects without benefit.