No abstract

Gastroesophageal disease (GERD) is the one of most spread diseases that injures an esophagus. Taking into account the large number of factors that can cause GERD development already in child age, including genetic predisposition, it is necessary to analyze each of them in detail. Aim of this work was to analyze a frequency and possible association type of р. Leu72Met mutation of GHRL gene in children with gastroesophageal reflux disease. The analysis of clinical parameters and course of disease in the group of 100 schoolchildren with GERD was carried out. The molecular-genetic study of c.214C>A locus of GHRL gene by CPR method (rs696217) was carried out in patients with GERD and 40 healthy children from the control group. In 82% of children with GERD was revealed a GHRL 214СС (Leu/Leu) homozygous genotype, at 58% among children from the control group. GHRL 214СА (Leu/ Met) genotype was registered three times more seldom in children of the studied group comparing with ones from the control group: 15,0% and 42,5%, respectively. It was established, that GHRL 214CС genotype presence conditions the increase of GERD development risk in 3,4 times. On the contrary, GHRL 214CА genotype manifests a reliable protective effect that is essentially decreased GERD development risk in a child at such genotype – 0,24 comparing with a conventional unit. There was established alleles and genotypes distribution of c.214C>A (р.Leu72Met) locus of GHRL gene in children with GERD. GHRL 214CС genotype is associated with threefold increase of GERD risk development. Gender differences as to GERD development risk at different genotypes of ghrelin gene were established. At GHRL 214СС (Leu/Leu) genotype the relative GERD risk for boys increased in more than 6 times. There were not established any differences in alleles and genotypes distribution depending on erosive or surface inflammatory changes of a gastrointestinal tract mucosa.

A disorder of copper metabolism at Wilson's disease (WD), conditioned by a mutation of adenosine thriphospate P-type gene (ATP7B), results in irreversible changes in the liver and in the nervous system. Mortality is high at WD, but it is one of hereditary diseases, well subjected to the therapy. The disease is manifested in the early age, but its clinical course in children is symptomless that essentially complicates diagnostics. A single reliable method is genetic analysis for revealing mutations in ATP7B gene. The aim of the work was to analyze clinical manifestations and course of Wilson's disease cases, genetically verified in children by detecting mutations of ATP7B gene. The research group included children of 6-17 years old with different injury degrees of the hepatobiliary system. According to results of the molecular-genetic analysis, the most spread allele variant of ATP7B gene (H1069Q) in Europe was confirmed in 10 patients of child age, including 4 cases of homozygosity. In 10 cases of the confirmed diagnosis of Wilson's disease in child age in 100 % (in all 10) of persons, a clinical manifestation was characterized by disorders from the hepatobiliary system, and only in 1 (10 %)-changes from the nervous system. At raising the level of transaminase in children, even at the normal bilirubin level and negative tests for viral hepatitis, it is recommended to carry out genetic testing for Wilson's disease.

Захворюваність на гастроезофагеальну рефлюксну хворобу серед пацієнтів усіх вікових груп неухильно зростає, однак дійсна поширеність вивчена недостатньо. Це пов'язане з труднощами діагностики даної патології серед дітей, зокрема відсутністю типових скарг та великою кількістю позастравохідних симптомів. Це зумовлює необхідність подальшого детального вивчення клінічних проявів гастроезофагеальної рефлюксної хвороби серед дітей Ключові слова: гастроезофагеальна рефлюксна хвороба, діти, особливості клінічних проявів, ацидність шлункового вмісту Рекомендовано до публікації д-р мед. наук , професор Гнатейко О. З. Дата надходження рукопису 25.09.2017 Дац-Опока Марта Ігорівна, асистент, кафедра пропедевтики педіатрії та медичної генетики, Львівський національний медичний університет імені Данила Галицького, вул. Пекарська,

національний медичний університет імені Данила Галицького, м. Львів (Україна) 2 Вищий навчальний комунальний заклад Львівської обласної ради "Львівська медична академія імені Андрея Крупинського", м. Львів (Україна)