Frontiers in Endocrinology, 2022 Congenital hyperinsulinism is characterised by the inappropriate release of insulin during hypoglycaemia. This potentially life-threatening disorder can occur in isolation, or present as a feature of syndromic disease.
Thomas I. Hewat +2 more
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Identification of an ABCC8 variant in a kindred with transient diazoxide responsive hyperinsulinism [PDF]
Endocrinology, Diabetes & Metabolism Case ReportsCongenital hyperinsulinism is a rare disorder characterized by hypoglycemia and inappropriately elevated insulin levels. The genetics of congenital hyperinsulinism is complex, with the most common cause being pathogenic variants in the ATP-sensitive ...
Ryan L Smith, Stephen I Stone
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Severe transient neonatal hyperinsulinism: First Peruvian case series [PDF]
SAGE Open Medical Case ReportsCongenital hyperinsulinism is characterized by dysregulated insulin secretion and is the most common and severe cause of persistent hypoglycemia in pediatrics. Brain damage rates can be as high as 50% due to inadequate treatment.
Manuel André Virú-Loza +2 more
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Orphanet Journal of Rare Diseases, 2022 Background Congenital 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
Indraneel Banerjee +7 more
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Congenital Hyperinsulinism India Association: An Approach to Address the Challenges and Opportunities of a Rare Disease [PDF]
Medical SciencesIndia’s population complexity presents varied challenges in genetic research, and while facilities have gained traction in tier-1 and -2 cities, reliance on international collaborations often delays such investigations.
Jaikumar B. Contractor +7 more
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European Journal of Pediatric Surgery Reports, 2022 Indocyanine green (ICG)-guided near-infrared fluorescence has been recently adopted in pediatric surgery, although its use in the treatment of congenital hyperinsulinism has not been reported.
Carlos Delgado-Miguel +7 more
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SUR1-mutant iPS cell-derived islets recapitulate the pathophysiology of congenital hyperinsulinism
Diabetologia, 2021 Congenital hyperinsulinism caused by mutations in the KATP-channel-encoding genes (KATPHI) is a potentially life-threatening disorder of the pancreatic beta cells. No optimal medical treatment is available for patients with diazoxide-unresponsive diffuse
Väinö Lithovius +2 more
exaly +2 more sources
Developing a congenital hyperinsulinism prioritized research agenda: a patient-driven international collaborative research network [PDF]
Frontiers in EndocrinologyIntroductionCongenital Hyperinsulinism (HI) is a rare disease that causes severe and recurrent hypoglycemia due to dysregulated insulin secretion. HI is the most frequent cause of severe, persistent hypoglycemia in newborns and children.
Tai L. S. Pasquini +17 more
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Variables associated with endogenous hyperinsulinism in hypoglycemia diagnosis. Could the 72-hour fasting test be shortened in low-risk patients? [PDF]
Journal of Clinical & Translational EndocrinologyBackground: The 72-hour fasting test remains the standard for the diagnosis of endogenous hyperinsulinism. We investigated which variables could identify patients at low risk for endogenous hyperinsulinism, in whom a shortening of the 72-hour fasting ...
Tomás González-Vidal +10 more
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Case Report: The importance of genetic counseling for families with hyperinsulinism [PDF]
Frontiers in PediatricsCongenital hyperinsulinism (HI) is the most common cause of persistent hypoglycemia in infancy. Genotype-phenotype correlations directly inform medical care for patients.
Victoria R. Sanders +18 more
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