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Annotation. Coronary insufficiency and associated ischemic heart disease are most common among adult patients, while life-threatening myocardial ischemia can develop in childhood and clinically debut as a sudden death syndrome. In children and young adults, the most frequent cardiac causes of sudden death syndrome include hypertrophic cardiomyopathy, coronary artery anomalies, other phenotypes of myocardial pathology, and myocarditis. Anomalies of the coronary arteries cause significant difficulties in diagnostics because they have a wide clinical polymorphism – from asymptomatic variants to severe myocardial dysfunction due to ischemia, and also require special knowledge and skills when using modern methods of imaging the heart and its structures. The work is devoted to the analysis of the etiology of coronary artery disease in childhood and is aimed at increasing the awareness of the medical community about this problem. The Cochrane Library, Pub Med and Google Scholar reference databases were used for the review. 84 articles were studied and analyzed, 29 sources were included in the review. Myocardial ischemia in childhood and associated severe myocardial dysfunction are most often the result of congenital anomalies of coronary artery development, coronary artery pathologies in the composition of other congenital heart defects, coronary artery damage in Kawasaki disease, and coronary insufficiency in patients with hypertrophic cardiomyopathy. It is important to note that coronary vessel anomalies can often be asymptomatic and not detected during routine clinical examination, but manifest themselves in young and even adult life in the form of acute myocardial ischemia and cardiogenic shock against the background of complete well-being. During echocardiographic screenings it is necessary to pay attention to the anatomy of the coronary arteries. Also a multidisciplinary approach to the management of children with diseases in which coronary artery damage is possible is necessary.

Among all inborn errors of metabolism lysosomal storage diseases occupy an important place, because they have a diverse clinical symptoms, manifest at different ages and are disguised as different diseases, which makes the diagnosis of these diseases quite difficult and long-term. Niemann-Pick disease, a rare inherited neurodegenerative disease caused by a disruption of intracellular lipid metabolism, is one such disease. The clinical manifestations of this disease are quite nonspecific, including neurological, visceral, or psychiatric symptoms, and can appear both in childhood and adulthood, which complicates diagnosis. Although this disease belongs to orphan diseases, doctors of many specialties may encounter such a patient - general practitioners, pediatrician, neonatologist, neurologist, gastroenterologist, hepatologist, hematologist and psychiatrist. Due to the specifics of the clinic, insufficient awareness of this disease, referral to a medical geneticist is late and patients remain unrecognized for years. The purpose - to provide up-to-date data on Niemann-Pick type C disease, clinical manifestations, diagnostic difficulties, and information on disease treatment options to increase awareness and awareness of the disease among physicians of various specialties. The article discusses the features of clinical manifestations, basic information about the possibilities of laboratory diagnostics, tools for early detection of the disease and achievements in the treatment of the disease. Management of patients with Niemann-Pick disease is complex, requires a multidisciplinary approach, and can only slow the progression of the disease. That is why early diagnosis of the disease is critically important, because specific treatment started as early as possible gives a chance to slow down the development of complications. Spreading knowledge about this disease will shorten the path to diagnosis and improve the provision of medical care to patients. No conflict of interests was declared by the authors.

Annotation. This study is devoted to evaluation of clinical course of cystic fibrosis (CF) in children. The study involved 84 children who were diagnosed with cystic fibrosis. All participants were asked about complaints, life history, physical examination was made, and the results of objective testing and instrumental examination were assessed. The statistical system “IBM SPSS Statistics” version 12 (20) was used using parametric and non-parametric methods of descriptive statistics. Student's criterion was used to assess the significance of the difference between the independent samples, and the Fisher's factor was used for the percentage data. It was shown that 86.91% of subjects had severe or moderate course of CF. Major mutation of CFRT gene F508del/F508del was found in 45.2% children. Common complaints were productive cough (92.9%; р<0.01), failure to thrive (61.9%; р<0.01) and shortness of breath during exercise (40.5%; р<0.01). Results of bacteriologic test of sputum showed significant prevalence of St. aureus (54.0%; р<0.01) and Ps. aeruginosa (38.10%; р<0.01). Patients with severe course of CF had lower rates of FVC, FEV1, PEF, FEF 25%, FEF 50%, FEF 75% than children with moderate and mild course. At the age of 3 years, the diagnosis of cystic fibrosis was established in time by only 76.92% of respondents, which aims to further efforts to improve the quality of its diagnosis.