ISSN 1576-3420
Global Journal of Endocrinology and Diabetes Vol. 8 (1), pp. 001-009, January, 2023. © International Scholars Journals
Review
Neonatal Diabetes Mellitus: Clinical and Genetic Approach
Najya A. Attia
King Abdullah International Medical Research Center /King Saud bin Abdulaziz University for Health Sciences/ King Abdulaziz Medical City/Pediatric Department/ Endocrine Unit. Jeddah, Saudi Arabia. Email: [email protected], [email protected]
Accepted 17 January, 2023
Abstract
Neonatal diabetes mellitus (NDM) is monogenic diabetes occurs in the first 6 month of age with an incidence of one in 20,000 to 500,000 newborn. This form of diabetes can be either transient (TNDM) resolves within a few months to relapse mainly at pubertal age or permanent (PNDM) stays for life.Abnormalities in the chromosome 6q24 region is present in approximately 70% of TNDM cases, mutations in the KCNJ11 genes, encoding the Kir6.2 subunit of the pancreatic KATP channel is the main case of PNDM, while mutations in the ABCC8 genes encoding the SUR1 subunit of the pancreatic KATP channel can be present in both TNDM and PNDM. Patients with TNDM usually presented earlier and have lower birth weight than PNDM, but there is a considerable overlapping in clinical features between the two groups necessitate molecular genetic tests for accurate diagnosis which has important therapeutic impacts on patients leading to transfer most of PNDM patients with activating mutations in KCNJ11 and ABCC8 genes, from insulin therapy to oral sulfonylurea. This review about NDM focuses on clinical presentation, genetic etiologies,diagnosis, acute treatment and long-term management. We describe a diagnostic algorithms for assessment of suspected neonatal diabetes to increase the yield of positive tests (Figure 2,3).
Keywords: Neonatal diabetes, Permanent neonatal diabetes, Transient neonatal diabetes, KATP channel mutations, Molecular genetic testing, Sulfonylurea.