Differential Morphological Diagnosis of Various Forms of Congenital Hyperinsulinism in Children

Mitrofanova, Lubov; Perminova, Anastasia Arkadyevna; Ryzhkova, Daria; Sukhotskaya, Anna A.; Никитина, И. Л.

doi:10.3389/fendo.2021.710947

Cited by 5 publications

(3 citation statements)

References 60 publications

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“…Most children with GDH-HI have hyperammonemia, with blood ammonia levels are 2–5 times above the upper limit of normal. Very few patients might have normal blood ammonia levels (only 2 cases were reported so far) [ 21 , 24 ]. The blood ammonia levels in children with GDH-HI are not as high as Urea cycle disorder (UCD) patients, and the blood ammonia level is stable.…”

Section: Clinical Presentation Of Gdh-himentioning

confidence: 99%

Glutamate dehydrogenase hyperinsulinism: mechanisms, diagnosis, and treatment

Zeng

Sang

2023

Orphanet J Rare Dis

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Congenital hyperinsulinism (CHI) is a genetically heterogeneous disease, in which intractable, persistent hypoglycemia is induced by excessive insulin secretion and increased serum insulin concentration. To date,15 genes have been found to be associated with the pathogenesis of CHI. Glutamate dehydrogenase hyperinsulinism (GDH-HI) is the second most common type of CHI and is caused by mutations in the glutamate dehydrogenase 1 gene. The objective of this review is to summarize the genetic mechanisms, diagnosis and treatment progress of GDH-HI. Early diagnosis and treatment are extremely important to prevent long-term neurological complications in children with GDH-HI.

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Section: Clinical Presentation Of Gdh-himentioning

confidence: 99%

Glutamate dehydrogenase hyperinsulinism: mechanisms, diagnosis, and treatment

Zeng

Sang

2023

Orphanet J Rare Dis

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Section: Somatostatin Receptor Distributionmentioning

confidence: 99%

“…Recent work from islets isolated from CHI patients undergoing pancreatectomy for focal, diffuse, or anomalous CHI ( 29 ) suggested less somatostatin activity than matched controls ( 30 ). Intriguingly, SST2 was expressed in nearly all CHI patients, while SST5 was expressed less frequently, although one patient with diffuse CHI did not express either SST2 or SST5 ( 29 ). This observation needs to be replicated in other cohorts to understand the real frequency of SST receptor expression variation and the potential implication of selective SST expression for optimal treatment of patients.…”

Section: Somatostatin Receptor Distributionmentioning

confidence: 99%

Somatostatin receptors in congenital hyperinsulinism: Biology to bedside

et al. 2022

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Congenital hyperinsulinism (CHI), although a rare disease, is an important cause of severe hypoglycemia in early infancy and childhood, causing preventable morbidity and mortality. Prompt diagnosis and appropriate treatment is necessary to prevent hypoglycaemia mediated brain damage. At present, the medical treatment of CHI is limited to diazoxide as first line and synthetic somatostatin receptor ligands (SRLs) as second line options; therefore understanding somatostatin biology and treatment perspectives is important. Under healthy conditions, somatostatin secreted from pancreatic islet δ-cells reduces insulin release through somatostatin receptor induced cAMP-mediated downregulation and paracrine inhibition of β- cells. Several SRLs with extended duration of action are now commercially available and are being used off-label in CHI patients. Efficacy remains variable with the present generation of SRLs, with treatment effect often being compromised by loss of initial response and adverse effects such as bowel ischaemia and hepatobiliary dysfunction. In this review we have addressed the biology of the somatostatin system contexualised to CHI. We have discussed the clinical use, limitations, and complications of somatostatin agonists and new and emerging therapies for CHI.

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Congenital organic hyperinsulinism associated with a variant in the <i>ABCC8</i> gene. Description of a family case

et al. 2023

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Hypoglycemia is the most common metabolic disorder occurring in early childhood, which can be the first, and sometimes the only symptom of a whole range of diseases. Etiology determines the characteristic clinical features of the course of hypoglycemic syndrome. Diagnosis is complicated by the fact that the clinical manifestations of hypoglycemia are variable and little specific. The main cause of persistent hypoglycemia in children of the first years of life is congenital hyperinsulinism. Congenital hyperinsulinism is a hereditary disease characterized by inadequate hypersecretion of insulin by beta cells of the pancreas. Manifesting as a rule in the neonatal period, congenital hyperinsulinism is a great threat, both in terms of survival of patients with late diagnosis, and in terms of the risks of severe neurological complications with inadequate therapy of emerging hypoglycemia. The article describes a family case of congenital organic hyperinsulinism associated with a rare heterozygous mutation in the ABCC8 gene, the early diagnosis of which allowed avoiding severe complications of the disease and timely prescribing adequate treatment. The clinical variability of the course of the disease in related patients was shown, which required a personalized approach to diagnosis and treatment. Thus, early detection of hypoglycemia, clarification of its etiology, including with the help of molecular genetic analysis, timely drug therapy and monitoring of the state of carbohydrate metabolism, are important aspects in the treatment and supervision of patients with congenital hyperinsulinism and the prevention of severe neurological complications in them.

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Differential Morphological Diagnosis of Various Forms of Congenital Hyperinsulinism in Children

Cited by 5 publications

References 60 publications

Glutamate dehydrogenase hyperinsulinism: mechanisms, diagnosis, and treatment

Glutamate dehydrogenase hyperinsulinism: mechanisms, diagnosis, and treatment

Somatostatin receptors in congenital hyperinsulinism: Biology to bedside

Congenital organic hyperinsulinism associated with a variant in the <i>ABCC8</i> gene. Description of a family case

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