Expert Reviewed By: Dr. Brandon Colby MD
Transient Neonatal Diabetes (TND) is a rare genetic disorder that affects newborns, causing high blood sugar levels in the first few weeks of life. This condition can be dominant or recessive, depending on the specific genetic mutations involved. In this article, we will explore the causes, symptoms, diagnosis, and the role of genetic testing in managing TND.
What is Transient Neonatal Diabetes?
Transient Neonatal Diabetes is a form of diabetes that occurs in newborns and typically resolves within the first few months of life. It is characterized by hyperglycemia (high blood sugar levels) and can lead to dehydration, difficulty feeding, and failure to thrive. TND can be caused by various genetic mutations, some of which are inherited in a dominant manner, while others are recessive. The condition affects approximately 1 in 400,000 newborns worldwide.
Causes of Transient Neonatal Diabetes
The primary cause of TND is genetic mutations in specific genes involved in the development and function of insulin-producing cells in the pancreas. These mutations can be inherited from one or both parents, depending on whether the condition is dominant or recessive. Some of the most common genetic mutations associated with TND include:
- 6q24-related TND: This is the most common form of TND, accounting for approximately 70% of cases. It is caused by abnormalities in a region of chromosome 6 known as 6q24 and is inherited in a dominant manner.
- KCNJ11-related TND: This form of TND is caused by mutations in the KCNJ11 gene, which is involved in the regulation of insulin secretion. It can be inherited in either a dominant or recessive manner.
- ABCC8-related TND: Mutations in the ABCC8 gene, which is also involved in insulin regulation, can cause TND. This form of the condition can be inherited in either a dominant or recessive manner.
Symptoms and Diagnosis of Transient Neonatal Diabetes
Infants with TND typically exhibit symptoms within the first few days or weeks of life. These may include:
- High blood sugar levels
- Dehydration
- Difficulty feeding
- Failure to thrive
- Increased urination
- Low birth weight
Diagnosis of TND is typically based on the presence of these symptoms, as well as laboratory tests to measure blood sugar levels. In some cases, additional tests may be performed to rule out other causes of hyperglycemia in newborns, such as infection or metabolic disorders.
The Role of Genetic Testing in Transient Neonatal Diabetes
Confirming the Diagnosis
Genetic testing can be a valuable tool in confirming the diagnosis of TND, as it can identify the specific genetic mutations responsible for the condition. This can help to distinguish TND from other forms of neonatal diabetes and provide information about the inheritance pattern of the condition.
Guiding Treatment
Genetic testing can also play a role in guiding the treatment of TND. For example, infants with KCNJ11 or ABCC8-related TND may respond well to treatment with a class of medications known as sulfonylureas, which can help to regulate insulin secretion. Identifying the specific genetic cause of TND can therefore help to inform the most appropriate treatment strategy for each individual.
Family Planning and Prenatal Testing
For families with a history of TND, genetic testing can provide valuable information for family planning purposes. By identifying the specific genetic mutations responsible for the condition, couples can better understand their risk of having a child with TND and make informed decisions about future pregnancies. Additionally, prenatal testing can be performed to determine if a fetus is affected by the condition, allowing for early intervention and management if necessary.
Conclusion
Transient Neonatal Diabetes is a rare genetic disorder that affects newborns, causing high blood sugar levels and other complications. Genetic testing can play a crucial role in diagnosing the condition, guiding treatment, and informing family planning decisions. By better understanding the genetic basis of TND, healthcare providers can provide the best possible care for affected infants and their families.
About The Expert Reviewer
Dr. Brandon Colby MD is a US physician specializing in the personalized prevention of disease through the use of genomic technologies. He’s an expert in genetic testing, genetic analysis, and precision medicine. Dr. Colby is also the Founder of and the author of Outsmart Your Genes.
Dr. Colby holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University’s Graduate School of Business, and a degree in Genetics with Honors from the University of Michigan. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (ACMG), an Associate of the American College of Preventive Medicine (ACPM), and a member of the National Society of Genetic Counselors (NSGC)