MODY 5
MODY 5 or Maturity-Onset Diabetes of the Young, Type 5 is a form of diabetes mellitus that is characterized by an autosomal dominant mode of inheritance, onset usually in adolescence or early adulthood, and an absence of ketosis. It is one of the several types of MODY, a group of genetically heterogeneous disorders caused by mutations in different genes.
Etiology[edit | edit source]
MODY 5 is caused by mutations in the HNF1B gene, which encodes a transcription factor involved in the development of the kidney, liver, pancreas, and genitourinary system. The mutations lead to a reduction in the activity of the HNF1B protein, impairing the normal development and function of these organs.
Clinical Features[edit | edit source]
Patients with MODY 5 typically present with diabetes in adolescence or early adulthood. However, the disease can also manifest in infancy or later in life. The diabetes is usually mild and can be controlled with diet or oral hypoglycemic agents. Unlike other forms of diabetes, patients with MODY 5 do not develop ketosis.
In addition to diabetes, patients with MODY 5 may also have abnormalities in the kidneys, liver, pancreas, and genitourinary system. These can include renal cysts, biliary tract abnormalities, pancreatic atrophy, and genital malformations.
Diagnosis[edit | edit source]
The diagnosis of MODY 5 is based on the clinical features and confirmed by genetic testing for mutations in the HNF1B gene. It is important to distinguish MODY 5 from other forms of diabetes, as the management and prognosis can be different.
Management[edit | edit source]
The management of MODY 5 involves controlling the blood glucose levels with diet or oral hypoglycemic agents. Insulin therapy is usually not required. In addition, any associated organ abnormalities need to be managed appropriately.
Prognosis[edit | edit source]
The prognosis of MODY 5 is generally good, with most patients able to lead a normal life with appropriate management. However, the presence of organ abnormalities can complicate the disease and affect the prognosis.
See Also[edit | edit source]
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