Neonatal Diabetes Mellitus - Causes, Symptoms, Diagnosis, and Treatment

What Is Neonatal Diabetes?

As a parent, you may be worried if your baby's blood sugar is high. Neonatal diabetes (ND) means your baby’s body is not making enough insulin. It is a rare genetic condition, affecting about 1 in 90,000 newborns. It usually appears before they are six months old. It causes very high blood sugar because the baby’s body produces little or no insulin. Some babies need insulin only for a short period, while others require lifelong treatment. ND occurs either because the pancreas does not form properly or because the insulin-producing beta cells do not function as they should. The most common genetic reasons include abnormalities in the 6q24 region or mutations in the ABCC8 and KCNJ11 genes. Treatment includes insulin or oral medication like sulfonylurea under medical supervision.

​Is Neonatal Diabetes Mellitus a Permanent Condition?

Permanent neonatal diabetes mellitus may last lifelong in 50 percent of babies. In contrast, transient neonatal diabetes mellitus occurs in a few and can disappear after 12 weeks of birth, but can reappear later. Fetuses with neonatal diabetes mellitus do not develop normally in the womb and may weigh less than normal when born. This condition is called intrauterine growth restriction.​

What Are the Causes of Neonatal Diabetes Mellitus?

So, why does neonatal diabetes occur? It usually occurs due to a change (or mutation) in a single gene. Therefore, it is also called monogenic diabetes. These gene changes affect the pancreas, especially the beta cells that produce insulin.

• Beta cells release insulin through tiny channels called K-ATP channels, which open or close in response to blood sugar levels. When these channels do not work properly, the body cannot release enough insulin, causing high blood sugar in newborns.

• Two important genes, KCNJ11 and ABCC8, provide instructions for making the parts of these K-ATP channels. If either of these genes has a mutation, the channels cannot function normally, and insulin release is disrupted. The INS gene, which helps produce insulin, can also cause neonatal diabetes when mutated.

• In transient neonatal diabetes, which goes away after some time, the issue often involves a specific region on chromosome 6q24. In this condition, certain genes in this area become overactive due to a process called genomic imprinting or methylation.

How Is Neonatal Diabetes Mellitus Inherited?

Mostly, neonatal diabetes mellitus is inherited in an autosomal dominant pattern (if one parent has the affected gene, then there is a 50 percent chance of the child acquiring the condition). In an autosomal recessive pattern, the affected gene must be inherited from both parents. The child in this condition will have a 25 percent chance of acquiring the condition. Neonatal diabetes mellitus can also occur in children without any family history due to new gene mutations.

​What Are the Symptoms of Neonatal Diabetes Mellitus?

The symptoms in these infants are as follows:

• Increased appetite.

• Dehydration.

• Frequent urination.

• Increased thirst.

• Rapid breathing.

• Less weight when born.

How Can Neonatal Diabetes Mellitus Be Diagnosed?

Increased blood glucose levels in the infant’s blood or urine can indicate neonatal diabetes mellitus. If this condition occurs in infants younger than six months, genomic testing is required, as neonatal diabetes mellitus is caused by gene mutations. Genetic testing is carried out in specialized laboratories using blood or saliva samples. The DNA is isolated from the sample and examined for mutations in the gene responsible for causing neonatal diabetes mellitus.

​Blood and urine tests can detect elevated blood glucose levels. However, genetic testing confirms the diagnosis and helps to plan the treatment. If a parent or a family member is suspected of having neonatal diabetes mellitus, then genetic testing before planning for pregnancy is recommended.

What Is the Treatment for Neonatal Diabetes Mellitus?

• Diet: Once the condition is diagnosed, initial treatment involves balancing carbohydrate and calorie intake. Also, excess weight gain in babies must be prevented, as it can cause insulin resistance in the future. If the baby is born underweight, dietary restrictions can cause a nutrient imbalance.

• Insulin: Due to the baby’s weight, insulin must be given carefully to prevent neurological problems. Recording the blood glucose level accurately using a blood glucose meter or glucose sensor is recommended before administering insulin. Glucose sensors offer the advantage of being combined with an insulin pump, allowing for continuous monitoring of blood glucose levels to prevent hypoglycemia. It also reduces the pricks made on the skin. Infants with transient neonatal diabetes mellitus may require treatment for a short duration but must be observed to check if the condition reappears.

• Medications: The great news is that a medication called sulfonylurea is often very effective for treating NDM. But, how does it work? These medications help open a blocked gate (called the K-ATP channel) in the pancreas's insulin-producing cells, allowing the insulin to finally move into the blood and start lowering the sugar. Glibenclamide is a drug that belongs to the class of sulfonylureas. Parents or nurses crush the tablet, mix it with water, and administer it to the infant through a syringe. However, this can cause a change in the dosage. Hence, a formulation of Glibenclamide has been developed that is suitable for newborns, infants, and children.

What Are the Risks Associated With Neonatal Diabetes Mellitus?

The risks include the following:

• Insulin deficiency can trigger the production of harmful chemicals called ketones, which can cause a life-threatening condition called diabetic ketoacidosis. In this condition, the body breaks down fat rapidly, and the liver converts the fats into ketones, thus making the blood acidic.

• A severe form of neonatal diabetes mellitus can cause DEND syndrome. It is a triad of neurological problems that cause a developmental delay (muscle weakness or learning disabilities), epilepsy (a condition in which brain activity becomes abnormal, causing periods of unusual behaviors, sensations, and loss of consciousness), and neonatal diabetes.

• Weak muscles.

• Macroglossia (a large tongue).

Conclusion:

​Neonatal diabetes mellitus can neither be prevented nor completely cured, but can be managed through a multidisciplinary approach or with a combination of various specialties. The cause of the disease can be verified through genetic testing. Medical follow-up ensures proper growth and prevents long-term complications.

Key Takeaways:

• Neonatal diabetes is a rare genetic disorder; genetic testing confirms the diagnosis and determines if it is permanent or temporary.

• One can avoid complications of neonatal diabetes with regular monitoring.

• With proper treatment, most babies have the potential to grow up healthy and develop normally.

• You can also speak to a healthcare professional at iCliniq for personalized guidance.​