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.
Aim. To evaluate the informational content of endoscopic ultrasound in pediatric patients with pancreatobiliary diseases. Materials and methods. The study included 16 patients with pancreatobiliary diseases, who were examined with 17 endoscopic ultrasounds within 14 months. The follow-up was 12 months. Results. Endoscopic ultrasound was informative in all 16 patients and in 14 patients it had an impact on the management. The main diseases that were indications for the examination included choledocholithiasis, pancreatobiliary abnormalities, relapsing pancreatitis, pancreatic cysts, as well as a combination of these diseases. There were no complications during the diagnostic examination as well as during the procedure done under the control of endoscopic ultrasonography. Conclusion. Endoscopic ultrasound is promising, effective and safe not only in adults but also in pediatric patients.
Introduction. Malformations and diseases of the pancreas are associated with the risk of complications. Interventional endoscopy is one of the ways to solve this problem.Material and methods. 24 patients (3–17 y.o.) were included in the study. 36 interventional endoscopic interventions were performed. Results. Transpapillary interventions were performed in 10 patients, all of them had anomalies of the ductal system. Stenosis of the distal pancreatic ducts was detected in 3 cases, in which stenting of the Wirsung duct was performed. Virsungolithiasis was confirmed in 3 cases, in which an anomaly of the ducts in the form of an incomplete split gland was detected in 2 patients. Pancreas divisum was detected in 1 patient, which required sphincterotomy of the minor duodenal papilla. Transmural interventions were performed in 13 cases: puncture – in 7 patients with intra- or parapancreatic cystic formations; drainage – in 6 patients with pancreatic pseudocysts. One child with traumatic rupture of the pancreas had a combined intervention (transpapillary and transmural). Discussion. The etiology of pancreatitis in children is associated with developmental anomalies and genetic factors. The leading pathogenetic factor in the development of complications is hypertension in the ducts of the gland. Traditional surgical interventions for pancreatitis are often traumatic and are accompanied by a high risk of complications. The introduction of minimally invasive techniques, such as interventional endoscopy, can solve the problem in some diseases of the pancreas.Conclusion. Transpapillary interventions can effectively eliminate hypertension in the pancreatic ducts in case of their dilatation and virsungolithiasis. Transmural interventions can be used to clarify the etiology of pancreatic cysts, as well as to drain pancreatic pseudocysts.
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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