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- Title
NEONATALNI DIJABETES - OD KLINIČKE PREZENTACIJE, PREKO MOLEKULARNOG MEHANIZMA DO TERAPIJE.
- Authors
LA GRASTA SABOLIĆ, LAVINIA; ŠEPEC, MARIJA POŽGAJ; STIPANČIĆ, GORDANA
- Abstract
Neonatal diabetes mellitus is a rare monogenic form of diabetes, which is characterized by the onset of insulin-requiring hyperglycaemia within the first six months of life. The main objective of this review is to present the current understanding of neonatal diabetes, including its clinical presentation, genetic causes, acute treatment and long term management, and to highlight the importance of early molecular genetic testing. We screened PubMed predominantly for reviews, cohort studies and case reports on neonatal diabetes published in English language during the last twenty five years. According to collected data, patients with neonatal diabetes usually present with failure to thrive, dehydration, hyperglycaemia and ketoacidosis. Neonatal diabetes can be either transient or permanent. While permanent form requires continuous life-long treatment, transient neonatal diabetes resolves few weeks or months after the initiation of therapy, but relapses in nearly 80% of patients, most often during the adolescence or early adulthood. Neonatal diabetes is monogenic in nature, and development of diabetes can be attributed to aplasia or hypoplasia of the pancreas, disturbed β cell function or early islet cell apoptosis. The results of molecular genetic analysis have important implications for appropriate treatment and expected disease course.
- Subjects
ISLANDS of Langerhans; GENETIC testing; THERAPEUTICS; CELL physiology; DIABETES
- Publication
Paediatria Croatica, Supplement, 2019, Vol 63, p13
- ISSN
1330-724X
- Publication type
Article