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

Gubaeva, Diliara; Melikyan, Maria; Ryzhkova, Daria; Poyda, Mikhail D.; Bairov, Vladimir G.; Sukhotskaya, Anna A.; Sokolov, Yu. Yu.; Efremenkov, Artem M.; Mitrofanova, Lubov; Christesen, Henrik Thybo; Никитина, И. Л.

doi:10.14341/probl10317

Cited by 9 publications

(5 citation statements)

References 21 publications

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“…Развитие той или иной формы ВГИ детерминируется генетическим дефектом. К 2019 г. известно 14 генов (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, UCP2, HNF4A, HNF1A, HK1, PGM1, PMM2, CACNA1D, FOXA2), мутации в которых приводят к развитию ВГИ [13,14].…”

Section: Discussionunclassified

“…Следует особо отметить, что основой развития фокальной формы ВГИ является не новообразование, а группа β-клеток с генетически детерминированной гиперсекрецией инсулина, которая не определяется ни лучевыми методами исследования, ни макроскопически [13].…”

Section: Discussionunclassified

“…Всем пациентам с диагнозом ВГИ рекомендовано проведение молекулярно-генетического исследования по описанной выше панели генов [3,6,13].…”

Section: Discussionunclassified

“…В настоящее время единственным методом топической визуализации формы ВГИ является проведение ПЭТ/КТ 18F-ДОФА [13,[22][23][24]. Данная методика позволяет провести не только дифференциальную диагностику, но и определить локализацию очага гиперсекреции инсулина в ткани поджелудочной железы.…”

Section: Discussionunclassified

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Laparoscopic resections of the pancreas in children with hyperinsulinism

Sokolov

Melikyan

Efremenkov

et al. 2020

Russian Journal of Pediatric Surgery

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Introduction. Congenital hyperinsulinism (CHI) is an inherited disease characterized by severe persistent hypoglycemia in the neonatal period due to insulin hypersecretion and rapid development of neurologic and systemic disorders. There are two main CHI forms: a diffuse one when hyper functioning of beta-cells affect the whole pancreas, and a focal one, characterized by an area of intact parenchyma. Currently, surgery is an acknowledged approach in focal forms, while in diffuse CHI forms surgical treatment is prescribed only in severe pharmacoresistant cases.Material and methods. A total of 11 patents with CHI, aged 1.5 - 26 months, had laparoscopic pancreatic resections at the department of pediatric surgery of Russian Medical Academy of Continuous Professional Education. All patients were examined , treated and prepared for surgery at the Endocrinology Research Centre ( Moscow). The focal CHI form was diagnosed in 3 children; the diffuse one - in 8 patients. In the focal CHI form, a focal resection was done: laparoscopic corpocaudal resection of the pancreas – 2 patients; resection of the pancreatic head with Roux–en-Y pancreaticojejunostomosis - 1 child. All children with diffused disease had laparoscopic near-total (98%) pancreatectomy.Results. In all cases, there were no intraoperative complications. Stenosis of the distal common bile duct developed in one child after the resection of pancreatic head which required a laparoscopic cholecystoduodenoanastomosis. There were no other complications. Two children with focal CHI were reported to recover completely; one patient suffered of hypoglycemia attacks not related to the increased insulin production. In diffuse cases, a stable euglycemia was achieved in 2 patients; 3 children had recurrent hypoglycemia attacks which required Somatostatin analogue therapy. One patient developed diabetes mellitus. In this case, follow-up period lasted for 2 months which is too short to assess the endocrinological outcome.Conclusion. The article presents the first Russian experience of laparoscopic pancreas resection in children with CHI. The laparoscopic approachcan be successfully applied in the surgical treatment of children with CHI.

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Section: Discussionunclassified

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Laparoscopic resections of the pancreas in children with hyperinsulinism

Sokolov

Melikyan

Efremenkov

et al. 2020

Russian Journal of Pediatric Surgery

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“…Ведущая задача медикаментозной терапии -достижение нормогликемии (целевой диапазон уровня глюкозы крови -4-8 ммоль/л) путем подавления секреции инсулина. Для этого назначаются препараты, подавляющие секрецию инсулина, и (или) принимается решение о необходимости оперативного лечения, поскольку до 45-60% детей с ВГИ плохо поддаются медикаментозному лечению и требуют хирургического вмешательства [57][58][59].…”

Section: лечениеunclassified

Congenital hyperinsulinism in newborns and young children: the state of the problem and the results of surgical treatment

et al. 2021

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Congenital hyperinsulinism causes irreversible damage to the cerebral cortex with subsequent disability in children. The article presents the features of etiopathogenesis, clinical picture of the disease. The histological variants of pancreatic lesions are analyzed in detail. The principles of correct diagnosis are formulated. A new in Russia method for the preoperative determination of the histological form of the disease, which is carried out at the y, Almazov National Medical Research Centre since 2017, – PET/ CT with 18F-DOPA, explained the biochemical basis of its clinical application and the examination technique. The principles of the selection of drug therapy with possible complications, the need for an adequate assessment of its effectiveness are described. If it is impossible to achieve a stable target euglycemia without the need for intravenous glucose infusion, surgical correction of the disease is indicated. In schematic drawings and intraoperative photographs, approaches to surgical treatment are described, the stages of operations and possible complications are clearly disassembled. The results of surgical interventions at the N.N. V.A. Almazov for 01.2017–02.2021, where 39 children with congenital hyperinsulinism were operated on. According to PET/CT with 18F-DOPA, 15 diffuse and 24 focal forms were diagnosed. After surgery, in 12 (31%) patients, a diffuse lesion of the gland was confirmed, in 23 (59%) – a focal nature of the lesion, in 4 (10%) – an atypical form was diagnosed intraoperatively. Of 39 children, 36 (92%) have complete relief of hyperinsulinism, a significant improvement in psychomotor development, of which 9 (23%) need insulin replacement therapy with minimal dosages, these are 8 children with a diffuse form of the disease and 1 child with an atypical one. Intraand postoperative complications were not observed. Thus, partial pancreatectomy for focal forms, subtotal for atypical and near total for diffuse forms, can cope with hypoglycemia due to congenital hyperinsulinism and prevent damage to the central nervous system of newborns and infants.

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