Transient neonatal diabetes mellitus with subtype ZFP57 genetic defect in 6q24
DOI:
https://doi.org/10.18203/2320-6012.ijrms20241917Keywords:
Neonatal, Diabetis mellitus, ZFP57 gene, 6q24 chromosome regionAbstract
Neonatal diabetes (NDM) is a rare form of diabetes that manifests in the first few months of an infant's life. The condition affects approximately one in 300,000 to 400,000 newborns and is characterized by elevated blood glucose levels. Transient and permanent NDM are the two types of this disease. In most cases of transient neonatal diabetes mellitus (TNDM), the genetic cause has been attributed to the overexpression of chromosome 6q24. Regardless of its underlying cause, the primary treatment for neonatal diabetes is insulin therapy.
Metrics
References
Lemelman MB, Letourneau L, Greeley SAW. Neonatal diabetes mellitus: an update on diagnosis and management. Clin Perinatol. 2018;45:41-59.
Docherty LE, Kabwama S, Lehmann A. Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients. Diabetologia. 2013;56:758-62.
Shield JPH. Neonatal diabetes: new insights into aetiology and implications. Hormone Res. 2000;53:7-11.
Kataria A, Gopi RP, Mally P, Shah B. Neonatal diabetes mellitus: current perspective. Res Rep Neonatol. 2014:55-64.
Harris AG, Letourneau LR, Greeley SAW. Monogenic diabetes: the impact of making the right diagnosis. Curr Opin Pediatr. 2018;30:558-67.
Mackay DJG, Temple IK. Transient neonatal diabetes mellitus type 1. Am J Med Genet C Semin Med Genet. 2010;154(3):335-42.
Neumann U, Bührer C, Blankenstein O, Kühnen P, Raile K. Primary sulphonylurea therapy in a newborn with transient neonatal diabetes attributable to a paternal uniparental disomy 6q24 (UPD6). Diabet Obes Metabol. 2018;20.
Burris HH. Hypoglycemia and hyperglycemia. In: Eichenwald EC, Hansen AR, Martin CR, Stark A, eds. Cloherty and Stark’s manual of neonatal care. 8th ed. Philadelphia: Wolters Kluwer; 2017: 312-25.
Aguilar-Bryan L, Bryan J. Neonatal diabetes mellitus. Endocr Rev. 2008;29:265-91.
Musa N, Hafez M, Hassan M. Clinical, molecular, and therapeutic aspects of NDM in ten cases with diabetes in 1st 6 months of life. International Journal of Diabet Develop Countr. 2016;36:81-8.
Demirbilek H, Arya VB, Ozbek MN. Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations. Eur J Endocrinol. 2015;172:697-705.
Boonen SE, Mackay DJG, Hahnemann JMD. Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci: a detailed follow-up. Diabetes Care. 2013;36:505-12.
Garin I, Edghill EL, Akerman I. Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis. Proceed Natnl Acad Sci. 2010;107:3105-10.
Flanagan SE, Mackay DJG, Greeley SAW. Hypoglycaemia following diabetes remission in patients with 6q24 methylation defects: expanding the clinical phenotype. Diabetologia. 2013;56:218-21.