Neonatal diabetes mellitus

Neonatal diabetes mellitus (NDM) is a monogenic form of diabetes that occurs in the first 6 months of life. It is a rare disease, occurring in only one in 100,000 to 500,000 live births. Infants with NDM do not produce enough insulin, leading to an increase in blood glucose. NDM can be mistaken for the much more common type 1 diabetes, but type 1 diabetes usually occurs later than the first 6 months of life. In about half of those with NDM, the condition is lifelong and is called permanent neonatal diabetes mellitus (PNDM). In the rest of those with NDM, the condition is transient and disappears during infancy but can reappear later in life; this type of NDM is called transient neonatal diabetes mellitus (TNDM). Specific genes that can cause NDM have been identified.^[1]

Symptoms of NDM include frequent urination, and dehydration. NDM can be diagnosed by finding elevated levels of glucose in blood or urine. In severe cases, the deficiency of insulin may cause the body to produce an excess of acid, resulting in a potentially life-threatening condition called ketoacidosis. Most fetuses with NDM do not grow well in the womb and newborns are much smaller than those of the same gestational age, a condition called intrauterine growth restriction. After birth, some infants fail to gain weight and growth as rapidly as other infants of the same age and sex. Appropriate therapy improves and may normalize growth and development.^[1]

In many cases, neonatal diabetes may be treated with oral sulfonylureas such as glyburide. Physicians may order genetic tests to determine whether or not transitioning from insulin to sulfonylurea drugs is appropriate for a patient. A 2006 study showed that 90% of patients with a KCNJ11 mutation were able to successfully transition to sulfonylurea therapy.^[2]

References

1. Monogenic Forms of Diabetes: Neonatal Diabetes Mellitus and Maturity-onset Diabetes of the Young at National Diabetes Information Clearinghouse, a service of the National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health. NIH Publication No. 07–6141. March 2007. Copyright cite: This publication is not copyrighted.
2. Pearson ER; Flechtner I; Njolstad PR; et al. (2006). "Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations". New England Journal of Medicine 355 (5): 467–477. doi:10.1056/nejmoa061759.

• Yorifuji, T; Kurokawa, K; Mamada, M; Imai, T; Kawai, M; Nishi, Y; Shishido, S; Hasegawa, Y; Nakahata, T (Jun 2004). "Neonatal diabetes mellitus and neonatal polycystic, dysplastic kidneys: Phenotypically discordant recurrence of a mutation in the hepatocyte nuclear factor-1beta gene due to germline mosaicism.". The Journal of Clinical Endocrinology and Metabolism 89 (6): 2905–8. doi:10.1210/jc.2003-031828. PMID 15181075.
• Edghill, EL; Bingham, C; Slingerland, AS; Minton, JA; Noordam, C; Ellard, S; Hattersley, AT (Dec 2006). "Hepatocyte nuclear factor-1 beta mutations cause neonatal diabetes and intrauterine growth retardation: support for a critical role of HNF-1beta in human pancreatic development.". Diabetic medicine : a journal of the British Diabetic Association 23 (12): 1301–6. doi:10.1111/j.1464-5491.2006.01999.x. PMID 17116179.