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Article

Permanent neonatal diabetes mellitus due to KCNJ11 mutation in a Portuguese family: transition from insulin to oral sulfonylureas.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2012

Dupont Juliette, Pereira Carla, Medeira Ana, Duarte Rui, Ellard Sian, Sampaio Lurdes

Abstract excerpt

Permanent neonatal diabetes mellitus (PNDM) is a rare form of diabetes diagnosed within the first 6 months of life. Heterozygous activation mutations in KCNJ11, encoding the Kir6.2 subunit of the ATP-sensitive potassium (K(ATP)) channel, which acts as a key role in insulin secretion regulation, account for about half of the cases of PNDM. The majority of the patients represent isolated cases resulting from de...

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Source

Identifiers

PMID: 22768671
DOI: 10.1515/jpem-2011-0191

Genes

KCNJ11

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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Permanent neonatal diabetes mellitus due to KCNJ11 mutation in a Portuguese family: transition from insulin to oral sulfonylureas.PMID 22768671Read ↗

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Glibenclamide unresponsiveness in a Brazilian child with permanent neonatal diabetes mellitus and DEND syndrome due to a C166Y mutation in KCNJ11 (Kir6.2) gene.Semantic proximity Read ↗

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Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study.Semantic proximity Read ↗

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