ArticleClinical genetics2011
Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia.
Article in Clinical genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 47 citations in OpenAlex.
- Single-center experience description of surgical management of diffuse congenital hyperinsulinism in a pediatric non-current cohort.Frontiers in endocrinology · 2026Article
- Diazoxide-Responsive Congenital Hyperinsulinism in a Preterm Infant With HomozygousCase reports in endocrinology · 2026Article
- The Elusive Nature of ABCC8-related Maturity-Onset Diabetes of the Young (ABCC8-MODY). A Review of the Literature and Case Discussion.Current diabetes reports · 2024Review
- Genotype-histotype-phenotype correlations in hyperinsulinemic hypoglycemia.Histology and histopathology · 2024Review
- Non-surgical Treatment May be Appropriate for Most Chinese Children With Monogenic Congenital Hyperinsulinism Based on a Retrospective Study of 121 Patients.Pediatric diabetes · 2024Article
- Standardised practices in the networked management of congenital hyperinsulinism: a UK national collaborative consensus.Frontiers in endocrinology · 2023Review
- KFrontiers in endocrinology · 2023Review
- Hyperinsulinemic hypoglycemia in children and adolescents: Recent advances in understanding of pathophysiology and management.Reviews in endocrine & metabolic disorders · 2020Review
- Somatostatin analogues for the treatment of hyperinsulinaemic hypoglycaemia.Therapeutic advances in endocrinology and metabolism · 2020Review
- Ion Transporters, Channelopathies, and Glucose Disorders.International journal of molecular sciences · 2019Review
- The Genetic and Molecular Mechanisms of Congenital Hyperinsulinism.Frontiers in endocrinology · 2019Review
- Clinical and Genetic Characteristics, Management and Long-Term Follow-Up of Turkish Patients with Congenital Hyperinsulinism.Journal of clinical research in pediatric endocrinology · 2016Article
- The Diagnosis and Management of Hyperinsulinaemic Hypoglycaemia.Journal of clinical research in pediatric endocrinology · 2015Review
- Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism.Clinical genetics · 2015Article
- Congenital hyperinsulinism caused by hexokinase I expression or glucokinase-activating mutation in a subset of β-cells.Diabetes · 2013Article
- Paternally inherited ABCC8 mutation causing diffuse congenital hyperinsulinism.Endocrinology, diabetes & metabolism case reports · 2013Article
- The molecular mechanisms, diagnosis and management of congenital hyperinsulinism.Indian journal of endocrinology and metabolism · 2013Article
- Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management.Journal of inherited metabolic disease · 2012Review
- Hyperinsulinaemic hypoglycaemia and diabetes mellitus due to dominant ABCC8/KCNJ11 mutations.Diabetologia · 2011Article
- Diazoxide-unresponsive congenital hyperinsulinism in children with dominant mutations of the β-cell sulfonylurea receptor SUR1.Diabetes · 2011Article
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
Recessive inactivating mutations in the ABCC8 and KCNJ11 genes encoding the adenosine triphosphate-sensitive potassium (K(ATP)) channel subunit sulphonylurea receptor 1 (SUR1) and inwardly rectifying potassium channel subunit (Kir6.2) are the most common cause of hyperinsulinaemic hypoglycaemia (HH). Most of these patients do not respond to treatment with the (K(ATP)) channel agonist diazoxide. Dominant inactivating ABCC8 and KCNJ11 mutations are less frequent, but are usually associated with a milder form of hypoglycaemia that is responsive to diazoxide therapy. We studied five patients from four families with HH who were unresponsive to diazoxide and required a near total pancreatectomy. Mutations in KCNJ11 and ABCC8 were sought by sequencing and dosage analysis. Three novel heterozygous ABCC8 mis-sense mutations (G1485E, D1506E and M1514K) were identified in four probands. All the mutations affect residues located within the Nucleotide Binding Domain 2 of the SUR1 subunit. Testing of family members showed that the mutations had arisen de novo with dominant inheritance in one pedigree. This study extends the clinical phenotype associated with dominant (K(ATP)) channel mutations to include severe congenital HH requiring near total pancreatectomy in addition to a milder form of diazoxide responsive hypoglycaemia. The identification of dominant vs recessive mutations does not predict clinical course but it is important for estimating the risk of HH in future siblings and offspring.
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