Those with transient neonatal diabetes tend to have symptoms in the first few days or weeks of life, with affected children showing weight loss and signs of dehydration, along with high levels of sugar in the blood and urine. Some children also have high levels of ketones in the bood and urine, or signs of metabolic acidosis. Permanent neonatal diabetes starts slightly later, typicalaly around six weeks of age. Regardless of type, preterm infants tend to experience symptoms earlier, typically around one week of age.Neonatal diabetes is classified into three subtypes: permanent, transient, and syndromic; each with distinct genetic causes and symptoms.Syndromic neonatal diabetes is the term for diabetes as just one component of any of several complex syndromes that affect neonates, including IPEX syndrome, Wolcott-Rallison syndrome, and Wolfram syndrome. Symptoms vary widely based on the syndrome. Cause
Neonatal diabetes is a genetic disease, caused by genetic variations that were either spontaneously acquired or inherited from ones parents. At least 30 distinct genetic variants can result in neonatal diabetes. The development and treatment of neonatal diabetes will vary based on the particular genetic cause. Known genetic variants cause neonatal diabetes by five major mechanisms: Preventing the development of the pancreas or β cells, promoting β-cell death by autoimmunity or endoplasmic reticulum stress, preventing β cells from recognizing glucose or secreting insulin, or abnormal expression of the 6q24 region on chromosome 6. Mechanism
Most permanent neonatal diabetes cases are caused by variations in the ATP-sensitive potassium channel, KATP.
In Melmed S, Auchus RJ, Goldfine AB, Koeng RJ, Rosen CJ (eds.). Williams Textbook of Endocrinology (14 ed.). Elsevier. Lemelman MB, Letourneau L, Greeley SA (March 2018). "Neonatal Diabetes Mellitus: An Update on Diagnosis and Management". Clin Perinatol. 45 (1): 41–59. doi:10.1016/j.clp.2017.10.006. PMC 5928785. PMID 29406006. == External links ==