Njølstad syndrome

Njølstad syndrome is a rare medical condition characterized by permanent neonatal diabetes mellitus and pancreatic exocrine insufficiency. This condition is caused by mutations in the PDX1 gene.

Symptoms

The symptoms of Njølstad syndrome include:

• Neonatal diabetes mellitus
• Pancreatic exocrine insufficiency
• Failure to thrive
• Dehydration
• Polyuria
• Polydipsia

Causes

Njølstad syndrome is caused by mutations in the PDX1 gene. This gene provides instructions for making a protein that is involved in the development of the pancreas and is also important for the normal function of insulin-producing beta cells in the pancreas.

Diagnosis

The diagnosis of Njølstad syndrome is based on the clinical symptoms and confirmed by genetic testing showing a mutation in the PDX1 gene.

Treatment

The treatment of Njølstad syndrome involves managing the symptoms. This includes insulin therapy for the diabetes and pancreatic enzyme replacement therapy for the pancreatic insufficiency.

Prognosis

The prognosis for individuals with Njølstad syndrome varies. With appropriate management of the diabetes and pancreatic insufficiency, individuals can lead a normal life. However, complications can occur, including diabetic ketoacidosis and malnutrition due to the pancreatic insufficiency.

See also

• Neonatal diabetes mellitus
• Pancreatic exocrine insufficiency
• PDX1 gene
• Beta cells

Njølstad syndrome Resources
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