Makindo Medical Notes.com

Related Subjects: Type 1 DM | Type 2 DM | Diabetes in Pregnancy | HbA1c | Diabetic Ketoacidosis (DKA) Adults | Hyperglycaemic Hyperosmolar State (HHS) | Diabetic Nephropathy | Diabetic Retinopathy | Diabetic Neuropathy | Diabetic Amyotrophy | Maturity Onset Diabetes of the Young (MODY) | Diabetes: Complications |

Maturity Onset Diabetes of the Young (MODY) is a monogenic form of diabetes caused by a mutation in a single gene. It is characterized by a young onset of diabetes (typically before 25 years of age) and is often misdiagnosed as type 1 or type 2 diabetes.

About

• Age of Onset: Usually presents before the age of 25 but can occur at any age.
• Inheritance: Autosomal dominant pattern - 50% affected.
• Insulin Production: They continue to produce insulin, unlike T1DM.
• Response to Treatment: treat with oral hypoglycemic agents instead of insulin.

Types

• MODY 1 (HNF4A mutation): mild hyperglycemia, often responsive to sulfonylureas.
• MODY 2 (GCK mutation): mild, stable fasting hyperglycaemia from birth, usually does not require treatment.
• MODY 3 (HNF1A mutation): most common associated with a progressive decline in insulin secretion, responsive to sulfonylureas.
• MODY 5 (HNF1B mutation): Associated kidney abnormalities and other extra-pancreatic features, often requires insulin therapy.

International definitions

• Normal Fasting sugar < 6.1 mmol [110 mg/dl] and 2 hr < 7.8 mmol/l [140 mg/dl]
• Diabetes: Fasting Blood sugar > 7.0 mmol [126 mg/dl]
• Impaired Glucose tolerance OGTT 2 hr Glucose > 7.8-11 mmol/l [140-199 mg/dl]
• Diabetes: Random > 11.1 mmol/l [200 mg/dl] + symptoms (if not repeat another day)

Diagnosis

• Genetic Testing: The definitive method for diagnosing MODY. Identifying the specific mutation helps tailor the treatment approach.
• Clinical Features: Consider MODY in patients with a family history of diabetes, especially with a young age of onset and atypical features for type 1 or type 2 diabetes.

Treatment

• MODY 1 and MODY 3: Often respond well to sulfonylureas or other oral hypoglycemic agents.
• MODY 2: Typically does not require treatment, as hyperglycemia is mild and stable.
• MODY 5: May require insulin therapy, and management of associated conditions like renal disease.