Neurological Paroxysmal Disorders in Children With Hypoglycemia in Congenital Hyperinsulinism: Polymorphism of Clinical Implications

Щедеркина, И. О.; Melikyan, Maria; Zavadenko, A. N.; Козлова, Е. В.; Заваденко, Н. Н.

doi:10.17749/2077-8333.2015.7.2.049-058

Cited by 3 publications

(1 citation statement)

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“…Связь между персистирующей гипогликемией и наличием неврологических осложнений неоднократно была установлена в других исследования [11,12]. Для профилактики неврологических осложнений рекомендуется раннее выявление пациентов с ВГИ и незамедлительное начало терапии, направленной на поддержание эугликемии [13,14].…”

Section: методы регистрации исходовunclassified

Clinical, genetic, and radionuclide characteristics of the focal form of congenital hyperinsulinism

Gubaeva¹,

Melikyan²,

Ryzhkova³

et al. 2019

Probl Endokrinol (Mosk)

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BACKGROUND: Congenital hyperinsulinism (CHI) is a severe disease with a high risk of complications including neurological deficit. Persistent hypoglycemia in patients with focal form of CHI can not be managed with medical treatment in 96.4% of cases, what subsequently leads to surgical treatment. Currently, there is a lack of information regarding patients with focal form of CHI. This study is aimed at finding better approaches for diagnosis and treatment of patients with focal form of CHI. AIMS: To study clinical, genetic and PET/CT findings of the focal form of CHI in Russian group of patients. MATERIALS AND METHODS: The observational research included all patients with a histologically confirmed focal form of CHI, who were admitted to Endocrinology Research Centre during the period from January 2008 to January 2019. A statistical analysis of clinical data, genotype, and positron emission tomography (PET) with 18F-dihydroxyphenylalanine (18F-DOPA) was performed. The median follow-up was 18 months. RESULTS: The study included 31 patients with focal CHI (14 boys, 45.2%). All patients had a neonatal presentation of the disease and demanded high levels of continuous glucose infusion to maintain euglycemia. The difference between the age of hypoglycemia presentation and the age of diagnosis ranged from 1 day to 3.9 months. In all cases, diazoxide was found to be ineffective. However, in 9 patients, it was possible to withdraw continuous glucose infusion and maintain euglycemia using octreotide in the preoperative period. A molecular genetic study allowed us to detect diverse pathogenic variants in ABCC8 and KCNJ11 genes in 30 patients. According to PET data with 18F-DOPA, the pancreatic index (PI) varied widely from 1.16 to 3.59. After partial resection of the pancreatic region with insulin hypersecretion, all patients showed complete recovery. CONCLUSIONS: The focal form of CHI is a severe condition with high prevalence of neurological complications. For preoperative diagnosis of the morphological form of the disease, it is necessary to conduct genetic analysis and radionuclide studies. Solely evaluation of mathematical parameters in 18F-DOPA PET without taking into account the visual data and the results of genetic analysis does not allow establishing the robust diagnosis. Timely diagnosis, identification of risk factors, and prevention of complications of persistent hypoglycemia are important tasks for clinicians.

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Section: методы регистрации исходовunclassified

Clinical, genetic, and radionuclide characteristics of the focal form of congenital hyperinsulinism

Gubaeva¹,

Melikyan²,

Ryzhkova³

et al. 2019

Probl Endokrinol (Mosk)

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Continuous subcutaneous infusion of somatostatin analogues in the treatment of congenital hyperinsulinism

Melikyan

Gubaeva

Kareva

2020

Probl Endokrinol (Mosk)

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BACKGROUND: Congenital hyperinsulinism (CHI) is a severe disease with a high risk of development of neurological complications due to persistent hypoglycemia. The use of an analog of somatostatin (octreotide) in patients with the resistance to the first-line drug allows to avoid surgical intervention. However, the octreotide is currently used in the form of frequent fractional injections due to the short duration of its effect. We present in this article our own experience of using octreotide in continuous subcutaneous infusion in pediatric patients in order to improve the quality of life. AIM To evaluate the efficiency and safety of the regime of continuous subcutaneous infusion of octreotide with the use of micro-dispensers (pumps) in children with diazoxide-resistant course of CHI. MATERIALS AND METHODS: An observational single-centre dynamic research was carried out on the basis of the Federal State Budgetary Institution Endocrinology Research Centre of the Ministry of Health of the Russian Federation. The study included pediatric patients with CHI and proven diazoxide-resistant course who were initially treated with octreotide in the form of intermittent subcutaneous injections. The researches compared the indicants of efficiency and safety of therapy on treatment of intermittent injections and after transfer to continuous subcutaneous infusion of the drug. The duration of each method of administration was at least 2 weeks. RESULTS: 16 patients took part in the research. The median for the total duration of octreotide usage in the examined patients was 3 months. According to the results of the work, the use of micro-dispensers for continuous subcutaneous administration of octreotide allowed to reduce the number of patients with episodes of hypoglycemia for more than 4 times (13/16 vs. 3/16); p=0,001). Also, there was a significant decrease in the number of patients with hyperglycemic episodes (4/16 vs. 0/16); p=0.000) and reduced dose of intravenous glucose (6.8 vs 5.2 mg/kg/min; p=0.042) as a result of continuous therapy, which indicates the advantages of smooth continuous administration comparing to single injections. We have not detected any significant side effects of the treatment. Elevated liver enzyme levels, dyspeptic symptoms and gallstone formation in some patients did not require cancellation of therapy. There were no hormonal disorders in the form of hypothyroidism and somatotropic hormone deficiency against the background of continuous octreotide infusion. CONCLUSIONS: Thus, the use of octreotide in patients with diazoxide-resistant course of СHI in continuous subcutaneous infusion using pumps has a number of advantages over the standard method of intermittent subcutaneous injection. This method of administration allows to achieve better glycemic control and reduce the risks from infusion therapy with highly concentrated glucose solutions, which undoubtedly improves the quality of life of patients.

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A clinical case of congenital hyperinsulinism in an early child

Бережанская¹,

Afonin²,

Папшева³

et al. 2020

Med. vestn. Ûga Ross.

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A clinical case of congenital hyperinsulinism, diffuse form, pharmacoresistant course (heterozygous mutation of p. 1361 1363 dup CGG in the GCK gene) in an early child is presented as an example of an orphan severe disease with an extremely unfavorable course and a probability of deterioration of the long-term prognosis. The goal was to highlight the clinical manifestations, course options, and complexity of treatment of this pathology to a wide range of doctors of different specialties in the field of Pediatrics in terms of improving the quality and timeliness of diagnosis, reducing the number of complications with the formation of irreparable consequences. Attention is drawn to the most severe course of hypoglycemic conditions in the early neonatal period, the dependence of the formation of a pronounced neurological deficit on the degree and duration of hypoglycemia, which emphasizes the importance of their timely correction to preserve the quality of life of this contingent of children.

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Neurological Paroxysmal Disorders in Children With Hypoglycemia in Congenital Hyperinsulinism: Polymorphism of Clinical Implications

Cited by 3 publications

References 0 publications

Clinical, genetic, and radionuclide characteristics of the focal form of congenital hyperinsulinism

Clinical, genetic, and radionuclide characteristics of the focal form of congenital hyperinsulinism

Continuous subcutaneous infusion of somatostatin analogues in the treatment of congenital hyperinsulinism

A clinical case of congenital hyperinsulinism in an early child

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