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Article

Permanent neonatal diabetes by a new mutation in KCNJ11: unsuccessful switch to sulfonylurea.

Archives of endocrinology and metabolism - 1 Dec 2015

Lau Eva, Correia Cintia, Freitas Paula, Nogueira Claúdia, Costa Maria, Saavedra Ana, Costa Carla, Carvalho Davide, Fontoura Manuel

Abstract excerpt

Permanent neonatal diabetes (PNDM) can result from activating heterozygous mutations in KCNJ11 gene, encoding the Kir6.2 subunit of the pancreatic ATP-sensitive potassium channels (KATP). Sulfonylureas promote KATP closure and stimulate insulin secretion, being an alternative therapy in PNDM, instead of insulin. Male, 20 years old, diagnosed with diabetes at 3 months of age. The genetic study identified a novel...

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Source

Identifiers

PMID: 26331221
DOI: 10.1590/2359-3997000000076

Genes

KCNJ11

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Permanent neonatal diabetes by a new mutation in KCNJ11: unsuccessful switch to sulfonylurea.PMID 26331221Read ↗

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