Familial Hyperinsulinism due to HNF4A Deficiency and Benign Premature Adrenarche: A Case Report
International Journal of Medical Students, 2021 Background: Familial Hyperinsulinism due to HNF4A deficiency (FHI-HNF4A) is a form of diazoxide-sensitive, diffuse hyperinsulinism, characterized by transient or persistent hyperinsulinemic hypoglycemia, and a propensity to develop Maturity-Onset ...
Edward Compton +2 more
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Pancreatic endocrine and exocrine function in children following near-total pancreatectomy for diffuse congenital hyperinsulinism. [PDF]
, 2016 Published onlineJournal ArticleCONTEXT: Congenital hyperinsulinism (CHI), the commonest cause of persistent hypoglycaemia, has two main histological subtypes: diffuse and focal.
Alam, S +6 more
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Orphanet Journal of Rare Diseases, 2021 Congenital hyperinsulinism (CHI), a major cause of persistent and recurrent hypoglycemia in infancy and childhood. Numerous pathogenic genes have been associated with 14 known genetic subtypes of CHI.
Wei Zhang, Yan-Mei Sang
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Congenital hyperinsulinism with hyperammonaemia
BMJ Case Reports, 2010 Congenital hyperinsulinism is considered to be the most frequent cause of persistent recurrent hypoglycaemia in infants. The clinical presentation and response to pharmacological treatment may vary significantly depending on the underlying pathology. We report a case of a female infant with mild but early onset of recurrent hypoglycaemia.
Hubert Fahnenstich +2 more
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Glucocorticoid-Induced Hyperinsulinism in a Preterm Neonate with Inherited ABCC8 Variant
Metabolites, 2022 Glucose homeostasis is a real challenge for extremely preterm infants (EPIs) who have both limited substrate availability and immature glucose metabolism regulation.
Emmanuelle Motte-Signoret +4 more
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Long-Term Outcome and Treatment in Persistent and Transient Congenital Hyperinsulinism : A Finnish Population-Based Study [PDF]
, 2021 Context: The management of congenital hyperinsulinism (CHI) has improved. Objective: To examine the treatment and long-term outcome of Finnish patients with persistent and transient CHI (P-CHI and T-CHI). Design: A population-based retrospective study of
Huopio, Hanna +3 more
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Glutamate dehydrogenase hyperinsulinism: mechanisms, diagnosis, and treatment
Orphanet Journal of Rare Diseases, 2023 Congenital hyperinsulinism (CHI) is a genetically heterogeneous disease, in which intractable, persistent hypoglycemia is induced by excessive insulin secretion and increased serum insulin concentration.
Qiao Zeng, Yan-Mei Sang
doaj +1 more source
Successful use of long acting octreotide in two cases with Beckwith-Wiedemann syndrome and severe hypoglycemia [PDF]
, 2014 INTRODUCTION: Hyperinsulinism associated with Beckwith-Wiedemann syndrome (BWS) can occur in about 50% of cases, causing hypoglycemia of variable severity. Parenteral use of octreotide may be indicated if unresponsive to diazoxide.
Hiba Al-Zubeidi +2 more
core +1 more source
Characterization of the zebrafish as a model of ATP-sensitive potassium channel hyperinsulinism
BMJ Open Diabetes Research & CareIntroduction Congenital hyperinsulinism (HI) is the leading cause of persistent hypoglycemia in infants. Current models to study the most common and severe form of HI resulting from inactivating mutations in the ATP-sensitive potassium channel (KATP) are
Diva D De León +2 more
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Hyperinsulinaemic hypoglycaemia and diabetes mellitus due to dominant ABCC8/KCNJ11 mutations [PDF]
, 2011 Dominantly acting loss-of-function mutations in the ABCC8/KCNJ11 genes can cause mild medically responsive hyperinsulinaemic hypoglycaemia (HH). As controversy exists over whether these mutations predispose to diabetes in adulthood we investigated the ...
Ellard, S +9 more
core +4 more sources