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
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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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Nouveautés radiologiques dans le dépistage et le diagnostic des erreurs innées du métabolisme [PDF]
, 2005 Les maladies héréditaires du métabolisme ont acquis une place de plus en plus importante dans la pathologie pédiatrique. Leur nombre ne cesse d’augmenter au fur et à mesure de la progression des connaissances en biologie cellulaire et des progrès ...
Boddaert, Nathalie +7 more
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Case Report: The importance of genetic counseling for families with hyperinsulinism
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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Clinical and Molecular Characterisation Of Hyperinsulinaemic Hypoglycaemia In Infants Born Small-For-Gestational Age [PDF]
, 2013 OBJECTIVE: To characterise the phenotype and genotype of neonates born small-for-gestational age (SGA; birth weight 6 months. Normoglycaemia on diazoxide
Arya, Ved Bhushan +6 more
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Familial Focal Congenital Hyperinsulinism [PDF]
The Journal of Clinical Endocrinology & Metabolism, 2011 Background:Congenital hyperinsulinism (CHI) is a cause of persistent hypoglycemia. Histologically, there are two subgroups, diffuse and focal. Focal CHI is a consequence of two independent events, inheritance of a paternal mutation in ABCC8/KCNJ11 and paternal uniparental isodisomy of chromosome 11p15 within the embryonic pancreas, leading to an ...
Ismail, Dunia +12 more
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Congenital hyperinsulinsim: case report and review of literature
The Pan African Medical Journal, 2020 Neonatal hypoglycemia (NH) is one of the most common abnormalities encountered in the newborn. Hypoglycemia continues to be an important cause of morbidity in neonates and children.
Brahim El Hasbaoui +3 more
doaj +1 more source
Frontiers in Endocrinology, 2022 Congenital hyperinsulinism (HI) is a rare disease affecting newborns. HI causes severe hypoglycemia due to the overproduction of insulin. The signs and symptoms of hypoglycemia in HI babies is often not discovered until brain damage has already occurred.
Julie Raskin +4 more
doaj +1 more source
Expression and function of ATP-dependent potassium channels in zebrafish islet β-cells [PDF]
, 2017 ATP-sensitive potassium channels (K(ATP) channels) are critical nutrient sensors in many mammalian tissues. In the pancreas, K(ATP) channels are essential for coupling glucose metabolism to insulin secretion.
Conway, Hannah +8 more
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Tissue Sodium Content and Arterial Hypertension in Obese Adolescents [PDF]
, 2019 Early-onset obesity is known to culminate in type 2 diabetes, arterial hypertension and subsequent cardiovascular disease. The role of sodium (Na+) homeostasis in this process is incompletely understood, yet correlations between Na+ accumulation and ...
Berger, Felix +12 more
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