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Article

Marked clinical heterogeneity in congenital hyperinsulinism due to a novel homozygous ABCC8 mutation.

Clinical endocrinology - 1 Jun 2021

Takasawa Kei, Miyakawa Yuichi, Saito Yoko, Adachi Eriko, Shidei Tsunanori, Sutani Akito, Gau Maki, Nakagawa Ryuichi, Taki Atsuko, Kashimada Kenichi, Morio Tomohiro

Abstract excerpt

BACKGROUND: The most severe forms of congenital hyperinsulinism (CHI) are caused by inactivating mutations of two KATP channel genes, KCNJ11 and ABCC8. Unresponsiveness to diazoxide and need for subtotal pancreatectomy can usually be predicted by genetic form, particularly biallelic mutations in KATP channel genes. A few reports indicated marked clinical heterogeneity in siblings with identical biallelic...

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PMID: 33595839
DOI: 10.1111/cen.14443

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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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