Neonatal diabetes mellitus is a form of diabetes that occurs in the first 6 months of life. NDM is a very rare condition and affects one in 100,000 to 500,000 live births. A result of having this condition means elevated blood glucose levels occur. This condition can often be confused with Type 1 diabetes due to the early advancement of the condition. However, type 1 diabetes usually affects individuals after 6 months of age.
In some cases of NDM, the condition is permanent and is known as Permanent neonatal diabetes mellitus (PNDM). However, for others affected by the condition, the disease is temporary and disappears completely during infancy. The condition can reappear in later stages of life, this is known as Transient neonatal diabetes mellitus (TNDM).
What is the cause?
There are specific genes which are responsible for the development of neonatal diabetes mellitus. Here are a few of thos genes:
- KCNJ11 gene: is important for the regulation of insulin and an inherited gene. This gene is the most common in cases of PNDM and is known to affect the protein 2. It usually affects children between the ages of 3 – 6 months old.
- ABCC8 gene: is involved in multi-drug resistance. With NDM a mutation in this gene has been observed in children from the age of 1 – 3 months of age. It is a rare mutation but also affects individuals suffering from Type 2 diabetes. This affected gene causes PNDM.
- GCK: Glucokinase which is responsible for identifying how high the blood glucose level in the body is. It is able to detect the presence of glucose (glucose sensor) for the pancreas. If the blood glucose levels increase in turn the level of insulin increase. This affected gene glucokinase (enzyme), although rare, it causes PNDM and affects babies a young as 1 week old.
- IPF1; also known as PDX1: This gene is responsible for maintaining and developing the pancreas as well as beta cells maturation. The affected protein is insulin promoter factor 1, this mutation also brings on PNDM, although it is rare it affects babies after 1 week of birth.
There is also a gene called, PTF1A, FOXP3 (present at birth), IPEX syndrome (sometimes present at birth), EIF2AK3, Wolcott-Rallison syndrome (present at 3 months). All these gene mutations result in PNDM.
Here is a list of some of the affected genes which result in TNDM (transient neonatal diabetes mellitus):
- ZAC/HYMAI (present from birth to 3 months)
- ABCC8 (present from birth to 6 months)
- KCNJ11 (present from birth to 6 months)
- HNF1 β (beta); also known as HNF1B (present from birth to 6 months)
The availability of genetic tests allows for the easy detection of these mutated genes. This will also impact the treatment that should be given to the infant suffering with the condition. Research has proven that infants who are suffering from this monogenetic diabetes can be treated with oral diabetes medication instead of insulin injections. However, genetic testing isn’t offered to everyone and people interested in being tested must fall under certain criteria.
Neonatal Diabetes Mellitus – how Jack was spared insulin injections through genetic testing
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