P70.2

Clinical Causes: Genetic mutations affecting insulin production or secretion Inherited or de novo genetic alterations impacting pancreatic beta-cell function Certain syndromes associated with neonatal diabetes, such as Wolcott-Rallison syndrome Transient or permanent forms of neonatal diabetes, depending on genetic factors

Key Symptoms: Persistent high blood sugar levels (hyperglycemia) Increased hunger and thirst Frequent urination (polyuria) Weight loss despite normal or increased appetite Dehydration and irritability in infants Failure to thrive or poor weight gain For permanent neonatal diabetes, symptoms may persist beyond infancy

Diagnosis Path: Diagnosing neonatal diabetes mellitus involves a combination of clinical evaluation and laboratory tests. Blood tests measuring blood glucose levels are essential, often revealing elevated glucose concentrations in affected infants. Additional testing includes genetic analysis to identify specific mutations associated with the condition. Persistent hyperglycemia in a newborn or infant, particularly in the absence of other causes, prompts further investigation. Urinalysis may be performed to detect glucose presence, and insulin levels are sometimes assessed to understand pancreatic function. Imaging studies of the pancreas are less common but can be part of the evaluation.

Treatment Protocols: Administering insulin via injections or insulin pumps Monitoring blood glucose regularly to adjust insulin doses Dietary management tailored to the infant's nutritional needs Addressing dehydration and electrolyte imbalances if present Genetic counseling for families, especially if a hereditary mutation is identified Long-term follow-up to monitor growth, development, and potential complications