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Case Report: When genetic diagnosis comes late: lessons from a DEND syndrome patient successfully transitioned to sulfonylurea

Neonatal diabetes mellitus (NDM) is a rare cause of diabetes characterized by the presence of severe hyperglycemia typically diagnosed within the first six months of life. Among the main causes are activating variants in heterozygosity in the KCNJ11 gene. Variants in this gene can lead to a spectrum...

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Main Authors: Gabriella de Medeiros Abreu, Ritiele Bastos de Souza, Marília Chaves Bernardo, Jardeson Lima da Cruz Junior, Amanda Ferreira, Deborah Snaider, Ana Carolina Proença da Fonseca, Kaio Cezar Rodrigues Salum, Verônica Marques Zembrzuski, Marco Antonio Lima, Roberta Magalhães Tarantino, Melanie Rodacki, Lenita Zajdenverg, Jorge Luiz Luescher, Eliane Lopes Rosado, Mário Campos Junior
Format: Artigo
Language:Inglês
Published: Frontiers Media S.A. 2025-10-01
Series:Frontiers in Clinical Diabetes and Healthcare
Subjects:
neonatal diabetes mellitus
DEND syndrome
KCNJ11
Kir6.2
sulfonylurea
late diagnosis
Online Access:https://www.frontiersin.org/articles/10.3389/fcdhc.2025.1654037/full
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