Permanent neonatal diabetes
Permanent Neonatal Diabetes
Permanent Neonatal Diabetes (PNDM, pronounced: /pɜːrˈmænənt niːoʊˈneɪtəl ˈdaɪəˌbiːtiːz/) is a rare form of diabetes that is diagnosed within the first six months of a baby's life and persists throughout life. The term "neonatal" refers to the first 28 days of life, but in PNDM, the diabetes is diagnosed within the first six months and does not go away.
Etymology
The term "Permanent Neonatal Diabetes" is derived from the English words "permanent" meaning lasting, "neonatal" meaning newborn, and "diabetes" which is a disease where the body's ability to produce or respond to the hormone insulin is impaired.
Symptoms
The symptoms of PNDM are similar to those of Type 1 diabetes and include frequent urination, excessive thirst, dehydration, and weight loss despite normal or increased appetite.
Causes
PNDM is usually caused by mutations in specific genes that play a crucial role in the development and function of the pancreas, which produces insulin. The most common genes involved are KCNJ11, ABCC8, and INS.
Treatment
Treatment for PNDM typically involves lifelong insulin therapy. However, in some cases where the condition is caused by mutations in the KCNJ11 or ABCC8 genes, it may be possible to switch from insulin to oral sulfonylurea drugs.
See Also
References
External links
- Medical encyclopedia article on Permanent neonatal diabetes
- Wikipedia's article - Permanent neonatal diabetes
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