Neonatal Diabetes Mellitus
Description
Neonatal diabetes mellitus (NDM) is a rare form of diabetes that appears in the first few months of life. Unlike type 1 diabetes, which usually develops later in childhood, NDM is often caused by genetic mutations that affect the pancreas‘s ability to produce insulin. This blog provides a comprehensive overview of NDM, covering its causes, symptoms, diagnosis, management, and the importance of support for children diagnosed with this condition.
Genes Involved
Several genes are associated with NDM. Some of the most commonly involved include:
- KCNJ11: Mutations in this gene affect the function of potassium channels in the pancreas, impacting insulin secretion.
- ABCC8: Mutations in this gene can lead to issues with ATP-sensitive potassium channels, which are critical for insulin release.
- GCK: Mutations in this gene affect the production of glucokinase, an enzyme vital for glucose sensing in pancreatic cells.
Recognizing the Signs and Symptoms
Recognizing the signs and symptoms of NDM is crucial for early diagnosis and intervention. Infants with NDM may experience excessive thirst, frequent urination, unexplained weight loss, and failure to thrive. They may also have increased hunger, irritability, and lethargy.
Causes
NDM is primarily caused by genetic mutations affecting the pancreas‘s ability to produce insulin. These mutations can be inherited from parents or occur spontaneously. In some cases, NDM can also be caused by factors like:
- Autoimmune reactions: Similar to type 1 diabetes, the immune system may mistakenly attack and destroy insulin-producing cells in the pancreas.
- Pancreatic agenesis: This rare condition involves the absence of a pancreas, leading to an inability to produce insulin.
Inheritance/recurrence risk
The inheritance pattern of NDM depends on the specific gene involved. Some forms are inherited in an autosomal dominant pattern, meaning a child only needs to inherit one mutated gene from a parent to develop NDM. Other forms are autosomal recessive, requiring both parents to carry the mutation for the child to be affected. The risk of recurrence depends on the specific inheritance pattern and the family history of NDM.
