Permanent neonatal diabetes mellitus (PNDM) is a newly identified and potentially treatable form of monogenic diabetes. This type of neonatal diabetes is caused by activating mutations of the KCNJ11 gene, which codes for the Kir6.2 subunit of the beta cell KATP channel. This disease is considered to be a type of maturity onset diabetes of the young (MODY). Cause
It can be associated with GCK, KCNJ11, INS, and ABCC8. Diagnosis
This results in congenital impairment of insulin release, although in the past, this was always being thought to be unusually early type 1 diabetes mellitus. The insulin deficiency results in intrauterine growth retardation with birth weight small for gestational age. The diabetes is usually diagnosed in the first 3 months of life due to continuing poor weight gain, polyuria, or diabetic ketoacidosis. Rare cases have been recognized as late as 6 months of age. Treatment
Remarkably, this type of diabetes often responds well to sulfonylureas and insulin may not be necessary. More severe mutations in the KCNJ11 gene can cause early-onset diabetes which does not respond to the sulfonylurea drugs, as well as a syndrome of developmental delay and neurological features called the DEND syndrome. These forms of diabetes are very rare conditions, appearing in about 1/100,000 to 1/200,000 live births, and accounting for about 1/1000 of type 1 diabetes cases.
Some animals that meet these criteria are sheep, non-human primates, rabbits, spiny mice, and guinea pigs.Transplantation of neural stem cells and umbilical cord stem cells is currently being trialed in neonatal brain injury, but it is not yet known if this therapy is likely to be successful. References
Further reading
Nelson, KB; Lynch, JK (March 2004). "Stroke in newborn infants". Lancet Neurology. 3 (3): 150–8. doi:10.1016/s1474-4422(04)00679-9. PMID 14980530. S2CID 11194017. Nelson, K. B. (29 January 2007). "Perinatal Ischemic Stroke". Stroke. 38 (2): 742–745. doi:10.1161/01.STR.0000247921.97794.5e. PMID 17261729. Rutherford, MA; Ramenghi, LA; Cowan, FM (September 2012). "Neonatal stroke". Archives of Disease in Childhood: Fetal and Neonatal Edition. 97 (5): F377-84. doi:10.1136/fetalneonatal-2010-196451. PMID 22933099. S2CID 32645328. Perinatal Stroke-Classification
Unique Approach to Neonatal Stroke Treatment