Caso contributivo
Un caso di diagnosi precoce di diabete neonatale permanente conseguente a mutazione del gene KCNJ11
Permanent neonatal diabetes mellitus due to mutations in KCNJ11 gene
Andrea Pietravalle1, Paola Cavicchioli1, Enrica Donadel1, Marta Lusiani1, Tommaso Malusa1, Giuliana Rossi1, Giovanna Contreas2, Michela Chirico1
1UOC di Pediatria e Terapia Intensiva Neonatale, Ospedale “dell’Angelo”, Venezia-Mestre
2UOC di Pediatria a indirizzo Diabetologico e Malattie del Metabolismo, AO Universitaria Integrata di Verona
Febbraio 2022 | DOI: 10.53126/MEBXXV039
Abstract
Neonatal diabetes mellitus (NDM) is a rare condition characterized by onset of persistent hyperglycaemia with-in the first six months of life. Heterozygous mutations in KCNJ11 gene account for about half of the cases of per-manent form of NDM and are associated with a wide range of neurocognitive disabilities. In suspected NDM, immediate molecular genetic testing is recommended because most of the cases due to mutations in KCNJ11 gene are responsive to oral sulfonylurea (SU) therapy with excellent glycaemic control at long term follow up.
The present report describes a case of early detection of permanent NDM, due to KCNJ11 gene mutation, which has been successfully treated with SU oral therapy.
The present report describes a case of early detection of permanent NDM, due to KCNJ11 gene mutation, which has been successfully treated with SU oral therapy.
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