ReviewOrphanet journal of rare diseases2022
Congenital hyperinsulinism in infancy and childhood: challenges, unmet needs and the perspective of patients and families.
Review in Orphanet journal of rare diseases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 39 papers.
What it found
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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
39 citing papers in PubMed, 54 citations in OpenAlex.
- Dasiglucagon in Children With Congenital Hyperinsulinism Up to 1 Year of Age: Results From a Randomized Clinical Trial.The Journal of clinical endocrinology and metabolism · 2025Trial
- Dasiglucagon for the Treatment of Congenital Hyperinsulinism: A Randomized Phase 3 Trial in Infants and Children.The Journal of clinical endocrinology and metabolism · 2024Trial
- Structural basis of insulin receptor antagonism by bivalent site 1-site 2 ligands S961 and Ins-AC-S2.Nature communications · 2026Article
- Comprehensive genetic rescreening improves diagnostic yield in congenital hyperinsulinism.Journal of the Endocrine Society · 2026Article
- Umbilical Cord Blood Glucose Concentrations and Transitional Neonatal Hypoglycemia.JAMA network open · 2026Article
- Health care, social, educational, and employment needs of individuals affected by rare diseases and their families in Catalonia, Spain.Orphanet journal of rare diseases · 2026Article
- [Exercise-induced hyperinsulinism: genetic basis and clinical management].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2026Review
- The impact of subtotal pancreatectomy on people with congenital hyperinsulinism and their caregivers.Frontiers in endocrinology · 2026Article
- Cells Co-Producing Insulin and Glucagon in Congenital Hyperinsulinism.Life (Basel, Switzerland) · 2025Article
- Continuous Glucose Monitoring in the Management of Congenital Hyperinsulinism: A National User-satisfaction Survey, UK.The Journal of clinical endocrinology and metabolism · 2025Article
- Comprehensive clinical and molecular characterization with long-term outcomes in 40 patients with congenital hyperinsulinism.Endocrine · 2025Article
- Neonatal hyperinsulinism: a retrospective study of presentation and management in a tertiary neonatal intensive care unit in the UK.Archives of disease in childhood. Fetal and neonatal edition · 2025Article
- Congenital Hyperinsulinism India Association: An Approach to Address the Challenges and Opportunities of a Rare Disease.Medical sciences (Basel, Switzerland) · 2025Review
- Reassessing Pancreatectomy in Diffuse Congenital Hyperinsulinism: A Tale of 2 Brothers With HomozygousJCEM case reports · 2025Article
- EndoCompass Project: Research Roadmap for Diabetes, Obesity, and Metabolism.Hormone research in paediatrics · 2025Review
- Severe congenital hyperinsulinism with progressive neurological deterioration due to novel HADH-GHSR digenic mutations: the first case report.Pediatric endocrinology, diabetes, and metabolism · 2025Article
- Developing a congenital hyperinsulinism prioritized research agenda: a patient-driven international collaborative research network.Frontiers in endocrinology · 2025Article
- Prevalence and risk factors of thrombosis in patients with congenital hyperinsulinism: a retrospective analysis.Frontiers in endocrinology · 2025Article
- Real-world experience with the use of diazoxide among people living with congenital hyperinsulinism and their caregivers.Frontiers in endocrinology · 2025Article
- Case Report: Food-based enteral formula in the nutritional management of children with hyperinsulinism: single center retrospective case series.Frontiers in endocrinology · 2025Article
Corrections and comments
- Erratum issued
Authors and funding
8 authors at 6 institutions in 4 countries.
Funding
Abstract
backgroundCongenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infants and children, and carries a considerable risk of neurological damage and developmental delays if diagnosis and treatment are delayed. Despite rapid advances in diagnosis and management, long-term developmental outcomes have not significantly improved in the past years. CHI remains a disease that is associated with significant morbidity, and psychosocial and financial burden for affected families, especially concerning the need for constant blood glucose monitoring throughout patients' lives.
resultsIn this review, we discuss the key clinical challenges and unmet needs, and present insights on patients' and families' perspective on their daily life with CHI. Prevention of neurocognitive impairment and successful management of patients with CHI largely depend on early diagnosis and effective treatment by a multidisciplinary team of specialists with experience in the disease.
conclusionsTo ensure the best outcomes for patients and their families, improvements in effective screening and treatment, and accelerated referral to specialized centers need to be implemented. There is a need to develop a wider range of centers of excellence and networks of specialized care to optimize the best outcomes both for patients and for clinicians. Awareness of the presentation and the risks of CHI has to be raised across all professions involved in the care of newborns and infants. For many patients, the limited treatment options currently available are insufficient to manage the disease effectively, and they are associated with a range of adverse events. New therapies would benefit all patients, even those that are relatively stable on current treatments, by reducing the need for constant blood glucose monitoring and facilitating a personalized approach to treatment.
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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.