Vasylieva O. Clinical and genetic characteristics of the patients with exocrine deficiency of pancreas and pancreatitis symptoms.

Object of the study: hereditary diseases of the pancreas (Ps), accompanied by symptoms of pancreatitis and an exocrine dysfunction of the organ. Purpose of the study: grounding of clinical-genetic peculiarities of Ps in hereditary disorders for a differential approach to the treatment and rehabilitation. Methods of the study: somatogenetic study with a syndromological analysis, an analysis of genealogies, biochemical, molecular, echographic and statistical methods. Practical significance: the research revealed forms of the hereditary pathology, which were accompanied by manifestations of an exocrine insufficiency of Ps and symptoms of pancreatitis and represented by both some spread monogenic pathology (cystic fibrosis) and rare forms of a disturbance in bioenergetical metabolism (mitochondrial diseases and organic aciduriae). Genealogical peculiarities of patients with different hereditary metabolic diseases (HMD) were characterized to detect a hereditary predisposition to Ps diseases, which can be used for the medical-genetic consulting of families with pathology of the gastrointestinal tract (GIT). Biochemical and echographic markers of a lesion of Ps and hepatobiliary system in patients with HMD were revealed; they can be used in the practical activity of doctors with different specialities in order to choose individual tactics for managing patients and selecting methods of pathogenetic therapy. Such algorithms as “Pancreatitis” and “Exocrine insufficiency of pancreas” were developed; they broaden the common knowledge of the etiopathogenesis of the above pathology and make it possible to integrate the modern genetic knowledge into gastroenterology. Novelty of the obtained results: a wide spectrum of HMD was revealed; they are accompanied by an exocrine insufficiency of Ps and symptoms of pancreatitis. A hereditary predisposition to the development of Ps pathology was found out: in the probands, who had relatives of kinship degrees I and II with GIT diseases in general and Ps ones in particular, the risk of a lesion of Ps was 2.5 times higher than in the probands with nonaggravated heredity. Phenotypical peculiarities in patients with hereditary forms of chronic pancreatitis were revealed. It was shown that a disruption in Ps functioning could be a marker sign of bioenergetical metabolic disturbances, which require a spe-cific correction. Introduction: results of the research were introduced into the work of the Kharkiv Specialized Medical-Genetic Centre, Kharkiv Regional Children’s Hospital, Ukrainian Institute of Clinical Genetics of Kharkiv National Medical University (KNMU). Results of the thesis were reflected in a collective monograph and a manual, which are widely used in the process of training at the Department of Medical Genetics of KNMU. Sphere of application: medicine, genetics.