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Neonatal Diabetes Mellitus (NDM) is a rare form of diabetes
that appears during the first 6 months of life and affects infants’ insulin
production ability. It is described as a monogenic disease because it is caused
by a mutation in a single gene that affects the function of beta cells (beta
cell dysfunction, accelerated beta cell dysfunction, or abnormal pancreatic
development). Beta cells are responsible for making insulin in the pancreas. Insulin
is a hormone that is needed to help glucose get from your blood into your
body’s cells to produce energy. Glucose is sugar that your body gets from the
food you eat. Inability of an infant’s pancreas to produce a sufficient amount
of insulin causes high sugar (glucose) level in the infant’s blood, like in
type 1 diabetes that occurs at an older age.
There are two main types of neonatal diabetes. Permanent Neonatal
Diabetes Mellitus (PNDM), which is a life-long condition, and Transient
Neonatal Diabetes Mellitus (TNDM), which in most cases disappears by 12 months
of age, but may reoccur at the age of 12 - 17. Permanent Neonatal Diabetes
Mellitus is much more rare than Transient Neonatal Diabetes Mellitus.
Symptoms of Neonatal Diabetes Mellitus are similar to those
of other types of diabetes and include excessive thirst, dehydration, and frequent
urination. The disease can be initially diagnosed when your doctor finds high
level of sugar (glucose) in the infant’s urine or blood. To rule out type 1
diabetes, the doctor may perform genetic testing because NDM is caused by a
genetic mutation.
Early diagnosis of Neonatal Diabetes Mellitus is very
important to decrease the risk of serious complications associated with the
disease. The complications may include diabetic ketoacidosis, epilepsy, macroglossia
(abnormally enlarged tongue), and developmental delay such as learning
disabilities and muscle weakness.
Although Neonatal Diabetes Mellitus cannot be
prevented or cured, it is a treatable and manageable condition. NDM can be
treated either with oral sulfonylurea medication like glyburide (glibenclamide)
or with insulin. Glyburide, which is a drug that boosts insulin production in
pancreas, can be the treatment of choice for approximately 50% of NDM patients.
If the treatment results are unsatisfactory, insulin injections are required.
In case of Transient Neonatal Diabetes Mellitus, no treatment is needed once
the disease disappears, but you should closely monitor the condition to catch
diabetes as early as possible if it returns later in life.
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