ArticleInternational journal of pediatric endocrinology2014
Congenital hyperinsulinism: clinical and molecular characterisation of compound heterozygous ABCC8 mutation responsive to Diazoxide therapy.
Article in International journal of pediatric endocrinology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
12 citing papers in PubMed, 21 citations in OpenAlex.
- From standard to individualized diazoxide therapy in congenital hyperinsulinism: a narrative review.Frontiers in pharmacology · 2026Review
- Diazoxide-Responsive Congenital Hyperinsulinism in a Preterm Infant With HomozygousCase reports in endocrinology · 2026Article
- Characterization of congenital hyperinsulinism in Argentina: Clinical features, genetic findings, and treatment outcomes.PloS one · 2025Article
- Successful Management of an Infant with Congenital Focal Hyperinsulinism with No Apparent Lesion During Surgery.Sisli Etfal Hastanesi tip bulteni · 2025Article
- Genetic background and clinical characteristics of infantile hyperammonemia.Translational pediatrics · 2023Article
- Investigating Genetic Mutations in a Large Cohort of Iranian Patients with Congenital HyperinsulinismJournal of clinical research in pediatric endocrinology · 2022Article
- An Overview of Hypoglycemia in Children Including a Comprehensive Practical Diagnostic Flowchart for Clinical Use.Frontiers in endocrinology · 2021Review
- Clinical Management and Gene Mutation Analysis of Children with Congenital Hyperinsulinism in South ChinaJournal of clinical research in pediatric endocrinology · 2019Article
- Partial diazoxide responsiveness in a neonate with hyperinsulinism due to homozygous ABCC8 mutation.Endocrinology, diabetes & metabolism case reports · 2019Article
- Congenital hyperinsulinism in two siblings with ABCC8 mutation: same genotype, different phenotypes.Archives of endocrinology and metabolism · 2018Article
- Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time.Orphanet journal of rare diseases · 2016Article
- Passion for Life: Lived Experiences of Patients after Coronary Artery Bypass Graft.The journal of Tehran Heart Center · 2015Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMutations in ABCC8 and KCNJ11 are the most common cause of congenital hyperinsulinism (CHI). Recessive as well as dominant acting ABCC8/KCNJ11 mutations have been described. Diazoxide, which is the first line medication for CHI, is usually ineffective in recessive ABCC8 mutations. We describe the clinical and molecular characterisation of a recessive ABCC8 mutation in a CHI patient that is diazoxide response. CLINICAL CASE: A term macrosomic female infant presented with symptomatic persistent hypoglycaemia confirmed to be secondary to CHI. She exhibited an excellent response to moderate doses of diazoxide (10 mg/kg/day). Molecular genetic analysis of the proband confirmed a biallelic ABCC8 mutation - missense R526C inherited from an unaffected mother and a frameshift c.1879delC mutation (H627Mfs*20) inherited from an unaffected father. Follow-up highlighted persistent requirement for diazoxide to control CHI. Functional analysis of mutants confirmed them to result in diazoxide-responsive CHI, consistent with the clinical phenotype.
conclusionBiallelic ABCC8 mutations may result in diazoxide-responsive CHI. Irrespective of the molecular genetic analysis results, accurate assessment of the response to diazoxide should be undertaken before classifying a patient as diazoxide-responsive or unresponsive CHI.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.