CLINICAL CASE OF CONGENITAL HYPERINSULINISM

Introduction. Congenital hyperinsulinism (HI) is a hereditary disease characterized by inadequate insulin hypersecretion pancreatic beta-cells and leading to hypoglycemia. The prevalence of HI in European countries on average 1:30,000 - 1:50,000 live births. Despite its low prevalence, one the main causes persistent hypoglycemia children first year life.The aim study demonstrate current clinical experience observation treatment child with conditions limited work similar rare pathologies children.Material methods research. based analysis examination diagnosed HI. set diagnostic measures included: laboratory studies, ultrasound, magnetic resonance imaging, molecular genetic studies.Results Seeing presence elevated levels (blood more than 2.0 μIU / ml) background glucose less 3.0 mmol l), was congenital hyperinsulinism.Considering possible etiological pathogenic factors children, metabolic diseases (deficiency fatty acid dehydrogenase, maple leaf disease, etc.), adrenal insufficiency, thyroid panhypopituitarism were excluded.Conservative did not show desired results. Additional included genes heterozygous mutation ABCC8 gene detected, which indicates focal form HI.The only effective method this pathology partial resection pancreas removal pathological locus. operated at Danish Children's Clinic, where enucleation lesion performed, detected position-emission (PET) computed tomography (CT).Conclusions. 1. In case detection child, timely diagnosis necessary, reduces risk neurological complications 2. Conservative forms does give significant results appropriate. 3. Partial pancreatectomy