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Permanent neonatal diabetes mellitus
Other Names for this Disease
- Permanent diabetes mellitus of infancy
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Permanent neonatal diabetes mellitus (PNDB) is a type of diabetes that appears within the first 6 months of life and persists throughout life. Affected individuals have slow growth before birth followed by hyperglycemia, dehydration and failure to thrive in infancy. Some individuals also have neurological problems including developmental delay and epilepsy; when these problems are present with PNDB, it is called DEND syndrome. A few individuals with PNDB also have an underdeveloped pancreas and may have digestive problems. PNDB is caused by mutations in any one of several genes (some of which have not yet been identified) including the KCNJ11, ABCC8, and INS genes. It may be inherited in an autosomal recessive or autosomal dominant manner. Treatment includes rehydration, insulin therapy and/or long-term therapy with oral sulfonylureas (in some cases).
- Permanent neonatal diabetes mellitus. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/permanent-neonatal-diabetes-mellitus. Accessed August 24, 2012.
- Diva D De León and Charles A Stanley. Permanent Neonatal Diabetes Mellitus. GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK1447/. Accessed August 24, 2012.
- DIABETESGENES.ORG provides information for patients and professionals on research and clinical care in genetic types of diabetes. Click on the link to learn more.
- Genetics Home Reference (GHR) contains information on Permanent neonatal diabetes mellitus. Click on the link to go to GHR and review the information.
- The National Diabetes Information Clearinghouse (NDIC) was established in 1978 to increase knowledge and understanding about diabetes among patients, health care professionals, and the general public. Click on the link to view information on this topic.
- The National Kidney and Urologic Diseases Information Clearinghouse (NKUDIC), part of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), conducts and supports research on a broad spectrum of diseases affecting public health. Click on the link to view information on this topic.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Permanent neonatal diabetes mellitus. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Permanent neonatal diabetes mellitus. Click on the link to go to OMIM and review these resources.
Selected Full-Text Journal Articles
- Colombo C, Porzio O, Liu M, Massa O, Vasta M, Salardi S et al. Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus. J Clin Invest. 2008 Jun;118(6): 2148-56.
- Stoy J, Greeley SA, Paz VP, Pastore AN, Skowron KB, Lipton RB et al. Diagnosis and treatment of neonatal diabetes: a United States experience. Pediatr Diabetes. 2008 Oct; 9(5):450-9. Epub 2008 Jul 25.