Permanent neonatal diabetes

Permanent neonatal diabetes
Synonyms	PNDM
Pronounce	N/A
Specialty	N/A
Symptoms	Hyperglycemia, failure to thrive, dehydration, ketoacidosis
Complications	N/A
Onset	Within the first 6 months of life
Duration	Lifelong
Types	N/A
Causes	Genetic mutations in KCNJ11, ABCC8, INS
Risks	Family history of diabetes mellitus
Diagnosis	Genetic testing, blood glucose levels
Differential diagnosis	Type 1 diabetes, transient neonatal diabetes mellitus
Prevention	N/A
Treatment	Insulin therapy, sulfonylureas
Medication	N/A
Prognosis	Variable, depends on genetic mutation and treatment
Frequency	Rare, approximately 1 in 300,000 to 1 in 400,000 live births
Deaths	N/A

Permanent Neonatal Diabetes Mellitus (PNDM) is a rare form of diabetes that is diagnosed within the first six months of life and persists throughout life. It is characterized by high blood sugar levels that are present from birth and require insulin treatment.

Etiology

PNDM is caused by mutations in several genes, including the KCNJ11, ABCC8, and INS genes. These genes are involved in the regulation of insulin, a hormone that controls blood sugar levels. Mutations in these genes disrupt the normal function of insulin, leading to high blood sugar levels.

Symptoms

The main symptom of PNDM is persistently high blood sugar levels from birth. Other symptoms can include failure to thrive, dehydration, and frequent urination.

Diagnosis

Diagnosis of PNDM is based on the presence of high blood sugar levels within the first six months of life that do not resolve. Genetic testing can confirm the diagnosis.

Treatment

Treatment for PNDM involves lifelong insulin therapy to control blood sugar levels. In some cases, oral medications may be used instead of insulin.

Prognosis

With proper treatment, individuals with PNDM can lead normal lives. However, they must carefully manage their blood sugar levels to prevent complications.

See also

• Diabetes mellitus
• Neonatal diabetes
• Insulin

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