Maturity onset diabetes of the young

Maturity Onset Diabetes of the Young
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Hyperglycemia, Polyuria, Polydipsia
Complications	Cardiovascular disease, Kidney disease, Retinopathy
Onset	Typically before age 25
Duration	Chronic
Types	N/A
Causes	Genetic mutations
Risks	Family history
Diagnosis	Genetic testing, Oral glucose tolerance test
Differential diagnosis	N/A
Prevention	N/A
Treatment	Diet, Exercise, Oral hypoglycemic agents
Medication	N/A
Prognosis	Variable
Frequency	Rare
Deaths	N/A

Maturity Onset Diabetes of the Young (MODY) is a monogenic form of diabetes mellitus that is characterized by an early onset, typically before the age of 25, and an autosomal dominant pattern of inheritance. MODY is caused by mutations in a single gene, which leads to impaired insulin secretion by the pancreas.

Classification

MODY is classified into several types based on the specific genetic mutation involved. The most common types include:

• MODY 1: Caused by mutations in the HNF4A gene.
• MODY 2: Caused by mutations in the GCK gene.
• MODY 3: Caused by mutations in the HNF1A gene.
• MODY 4: Caused by mutations in the PDX1 gene.
• MODY 5: Caused by mutations in the HNF1B gene.
• MODY 6: Caused by mutations in the NEUROD1 gene.

Pathophysiology

MODY results from mutations in genes that are critical for the normal function of pancreatic beta cells. These mutations lead to a reduction in insulin production and secretion, resulting in hyperglycemia. Unlike type 1 diabetes, MODY does not involve autoimmune destruction of beta cells, and unlike type 2 diabetes, it is not primarily associated with insulin resistance.

Clinical Presentation

Patients with MODY typically present with mild to moderate hyperglycemia, which may be asymptomatic or associated with symptoms such as polyuria and polydipsia. The condition is often misdiagnosed as type 1 or type 2 diabetes due to overlapping clinical features.

Diagnosis

The diagnosis of MODY is confirmed through genetic testing, which identifies the specific mutation responsible for the condition. Additional diagnostic tests may include:

• Oral glucose tolerance test
• Measurement of C-peptide levels
• Assessment of autoantibodies to rule out type 1 diabetes

Management

The management of MODY depends on the specific type and severity of the condition. Treatment options may include:

• Lifestyle modifications such as diet and exercise
• Oral hypoglycemic agents such as sulfonylureas
• In some cases, insulin therapy may be required

Prognosis

The prognosis for individuals with MODY varies depending on the specific genetic mutation and the effectiveness of treatment. With appropriate management, many patients can maintain good glycemic control and prevent complications.

Epidemiology

MODY is a rare condition, accounting for approximately 1-2% of all cases of diabetes. It is more common in individuals with a family history of early-onset diabetes.

See also

• Diabetes mellitus
• Type 1 diabetes
• Type 2 diabetes

External links

• Diabetes.org - MODY