Permanent neonatal diabetes mellitus
Ultimo aggiornamento 13 gen 2026
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Permanent neonatal diabetes mellitus is a type of diabetes that typically appears within the first 6 months after birth (the neonatal period) and continues throughout life. Diabetes is characterised by high levels of glucose in the blood, also called blood sugar. In infants with permanent neonatal diabetes mellitus, diabetes results from a shortage or absence of the hormone insulin. Insulin is produced by the pancreas. It helps move glucose from the blood into cells, where glucose is converted into energy.
Descrizione
Permanent neonatal diabetes mellitus is a type of diabetes that typically appears within the first 6 months after birth (the neonatal period) and continues throughout life. Diabetes is characterised by high levels of glucose in the blood, also called blood sugar. In infants with permanent neonatal diabetes mellitus, diabetes results from a shortage or absence of the hormone insulin. Insulin is produced by the pancreas. It helps move glucose from the blood into cells, where glucose is converted into energy.
The signs and symptoms of permanent neonatal diabetes mellitus can vary among affected individuals. Infants with this condition typically have abnormally high levels of glucose in the blood, glucose in the urine, severe fluid loss (dehydration), and a history of slow growth before birth (intrauterine growth retardation). After birth, affected infants may also have difficulty gaining weight and growing at the expected rate (failure to thrive).
A small number of individuals with permanent neonatal diabetes mellitus have an underdeveloped pancreas. Because the pancreas produces digestive enzymes in addition to insulin, affected individuals may also experience digestive problems, such as fatty stools and an inability to absorb fat-soluble vitamins.
The long-term complications of permanent neonatal diabetes mellitus can include kidney disease and retinopathy, which is damage to the small blood vessels in the specialized light-sensitive tissue that lines the back of the eye (retina). The risk of long-term complications is reduced with proper diabetes management.
Modelli di ereditarietà
The source lists the following possible inheritance patterns: Autosomal dominant+New variant; Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Altri nomi
Isolated permanent neonatal diabetes mellitus
Isolated PNDM
Monogenic diabetes of infancy
PDMI permanent diabetes mellitus of infancy
PNDM
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Ulteriori letture e riferimenti
- Permanent neonatal diabetes mellitus; MedlinePlus, National Library of Medicine.
- Barbarini DS, Haslinger V, Schmidt K, Patch AM, Muller G, Simma B. Neonatal diabetes mellitus due to pancreas agenesis: a new case report and review of the literature. Pediatr Diabetes. 2009 Nov;10(7):487-91. doi: 10.1111/j.1399-5448.2009.00523.x. Epub 2009 Jun 3.
- Dahl A, Kumar S. Recent Advances in Neonatal Diabetes. Diabetes Metab Syndr Obes. 2020 Feb 12;13:355-364. doi: 10.2147/DMSO.S198932. eCollection 2020.
- De Leon DD, Pinney SE. Permanent Neonatal Diabetes Mellitus. 2008 Feb 8 [updated 2025 Sep 25]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1447/
- Edghill EL, Flanagan SE, Ellard S. Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11. Rev Endocr Metab Disord. 2010 Sep;11(3):193-8. doi: 10.1007/s11154-010-9149-x.
- Edghill EL, Flanagan SE, Patch AM, Boustred C, Parrish A, Shields B, Shepherd MH, Hussain K, Kapoor RR, Malecki M, MacDonald MJ, Stoy J, Steiner DF, Philipson LH, Bell GI; Neonatal Diabetes International Collaborative Group; Hattersley AT, Ellard S. Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. Diabetes. 2008 Apr;57(4):1034-42. doi: 10.2337/db07-1405. Epub 2007 Dec 27.
- Flanagan SE, Clauin S, Bellanne-Chantelot C, de Lonlay P, Harries LW, Gloyn AL, Ellard S. Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism. Hum Mutat. 2009 Feb;30(2):170-80. doi: 10.1002/humu.20838.
- Flanagan SE, Edghill EL, Gloyn AL, Ellard S, Hattersley AT. Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype. Diabetologia. 2006 Jun;49(6):1190-7. doi: 10.1007/s00125-006-0246-z. Epub 2006 Apr 12.
- Polak M, Cave H. Neonatal diabetes mellitus: a disease linked to multiple mechanisms. Orphanet J Rare Dis. 2007 Mar 9;2:12. doi: 10.1186/1750-1172-2-12.
- Rubio-Cabezas O, Klupa T, Malecki MT; CEED3 Consortium. Permanent neonatal diabetes mellitus--the importance of diabetes differential diagnosis in neonates and infants. Eur J Clin Invest. 2011 Mar;41(3):323-33. doi: 10.1111/j.1365-2362.2010.02409.x. Epub 2010 Nov 4.
- Stoy J, Steiner DF, Park SY, Ye H, Philipson LH, Bell GI. Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene. Rev Endocr Metab Disord. 2010 Sep;11(3):205-15. doi: 10.1007/s11154-010-9151-3.
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