Mucoviscidosis is a monogenic autosomal recessive caused by the CFTR gene mutations and characterized by pronounced genetic heterogeneity and clinical polymorphism, which emphasizes the need in comprehensive diagnosis and molecular-genetic verification of the final diagnosis. Quality and duration of a mucoviscidosis patient depend on early diagnosis and timely adequate therapy. The article presents mucoviscidosis diagnostic methods and protocols and capabilities of the modern molecular-genetic pathological diagnosis; a review of DNA diagnostic sets has been performed. As sets of some of the genes typical to the Russian population have not been registered in the Russian Federation, mutations in 20% of the patients cannot be specified. In order to solve this problem it is necessary to develop DNA diagnostic sets specific for the Russian Federation, ensure genetic diagnosis of the disease, including sequencing methods at the expense of the federal budget, increase the amount of information and improve quality of teaching this discipline to  students of medial universities and at postgraduate courses for appropriate specialists.

Background. Chickenpox is the second most common cause of pediatric infectious pathologies. Specific chickenpox immune prevention has been in use around the world for more than 20 years. The main reasons why chickenpox vaccine has not been included into the national immunization schedule in the territory of the Russian Federation is high price of imported vaccines and the lack of effective and inexpensive Russian counterparts, which is why economic feasibility of expenses on immune prevention against this disease is doubtful. The study was aimed at assessing pharmacoeconomic effectiveness and safety of chickenpox immunization of the infant orphanage inmates on the basis of the retrospective analysis of chickenpox incidence. Methods. Statistical data of the specialized infant orphanage (overall hospital admission rate and chickenpox incidence) for 10 years (2004–2013) have been compared with one-year chickenpox incidence among the children immunized with hypodermic freeze-dried vaccines based on the attenuated Varicella zoster virus (OKA strain) reproduced in the culture of diploid MRC-5 cells. Results. Significance of chickenpox in the morbidity structure of the infant orphanage inmates aged 0-4 years has been demonstrated. Conclusions. Retrospective pharmacoeconomic analysis helped to confirm effectiveness and financial viability of immunizing infant orphanage inmates against chickenpox.

Background. Capabilities of assessing functional condition of the respiratory system in young children, including patients with bronchopulmonary dysplasia, are extremely limited, as little children do not cooperate with doctors in the course of diagnostic procedures. Results of use of a modern instrumental diagnostic method in this group of patients is of doubtless interest. The study was aimed at tracking changes in functional condition of the respiratory system in children with bronchopulmonary dysplasia during follow-up. Methods. Quite breathing flowmetry during natural sleep. Results. The article presents the authors’ data obtained by means of analyzing external respiratory function in children with bronchopulmonary dysplasia using a modern method of quiet breathing flowmetry; it is also reasonable to use relative parameters of the external respiratory function as diagnostic criteria of bronchoobstructive syndrome at bronchopulmonary dysplasia and criteria of effectiveness of N-acetylcysteine mucolytic therapy. Conclusion. Quiet breathing flowmetry may be used to diagnose bronchoobstructive syndrome and assess effectiveness of the treatment thereof in children with bronchopulmonary dysplasia.

The article is dedicated to modern approaches to treatment of Gaucher’s disease. The authors list the primary aspects of the disease and present data on the origin and introduction of pathogenetic enzyme replacement therapy to clinical practice. Review of international clinical studies demonstrates high effectiveness and safety of long-term enzyme replacement therapy with velaglucerase alfa in patients with confirmed type I Gaucher’s disease.

Brain-lung-thyroid syndrome is a rare genetic disease characterized by pathology of the syndrome affected organs. This syndrome is based on mutations of the NKX2-1 gene, which encodes the thyroid transcription factor. Clinical manifestation of brain-lung-thyroid syndrome is characterized by a variable phenotype. The article presents the first Russian clinical observation of a patient with a genetically confirmed disease. Combination of such symptoms as motor development delay, ataxia, muscular hypotonia, recurrent lower airway infections, hypothyroidism helped to assume and then confirm brain-lung-thyroid syndrome by means of genetic analysis. The article also presents world literature findings (1998-2014) on clinical observations of this disease in respect of genetics, pathogenesis, pathomorphology, clinical pattern and therapy.

Nephrotic syndrome is a severe renal disease that may result in the end-stage renal failure despite the extent of proteinuria. Prognosis and tactics of therapy of nephrotic syndrome depend both on the morphological diagnosis and on the cause of the disease. It ought to be considered that congenital nephrotic syndrome is resistant to immunosuppressive therapy. However, several foreign authors demonstrate cases of immunosuppressive therapy effectiveness (steroids and cyclosporine A) in a range of familial cases of nephrotic
syndrome. Timely detection of children with genetically caused nephrotic syndrome allows to define the patient management tactics in each case on time. This clinical case represents non-severe course of congenital nephrotic syndrome caused by an NPHS2 gene mutation, which had not before been described neither in Russian nor in foreign literature. The authors deem introduction of the molecular genetic analysis to the routine clinical practice for all cases of congenital nephrotic syndrome and steroid-resistant nephrotic syndrome reasonable.

The article presents a case of severe juvenile idiopathic arthritis associated uveitis in a patient who contracted the disease at the age of 10 year. Uveitis developed 9 months after manifestation of the articular syndrome in the event of etanercept therapy. Switch to adalimumab induced remission of the articular syndrome and uveitis. By the 8th week of treatment, an inactive disease stage (6 months) was diagnosed in a child.

Anaphylaxis is an acute potentially life-threatening syndrome; in children, it is usually triggered by food allergy. Virtually any food may serve as a provocative factor for an anaphylactic reaction, which is why timely detection of clinically significant allergens is important for prognosis and prevention of allergies. The article presents case record of a 4-years-old patient with polyvalent sensitization and predisposition to anaphylaxis. Demonstration of this case is aimed at justifying use of molecular allergological diagnostic methods for prognosis and selection of therapeutic tactics. Determination of sensitization profile helps to elaborate the optimal tactics of managing patients with severe allergic reactions. Use of biochips to determine the level of IgE-antibodies to various allergenic molecules helps to recognize and determine the true IgE-mediated sensitization and cross-reactivity in patients with polyvalent allergies, to assess the risk of systemic reactions in the event of a food allergy.

Type I mucopolysaccharidosis (MPS) is a hereditary metabolic disease related to lysosomal storage diseases. Alpha-L-iduronidase enzyme deficiency leads to dissimilar disease phenotypes and varying severity of symptoms. Researchers distinguish between three phenotypes of the disease: Hurler syndrome (mucopolysaccharidosis IH — severe form), Scheie syndrome (mucopolysaccharidosis IS — mild form), Hurler-Scheie syndrome (mucopolysaccharidosis I H/S — moderate form). The article presents a case of Hurler syndrome affecting cardiac, musculoskeletal and nervous systems, as well as data on case follow-up and treatment of a child at a modern multiprofile inpatient hospital. The article demonstrates that unlike the only previously possible palliative treatment, modern methods of treatment, such as enzyme replacement therapy, transplantation of bone marrow stem cells, umbilical cord blood or peripheral sources of stem cells and orthopedic correction, are effective.

Juvenile xanthogranuloma is the most common clinical variant of the class II histiocytosis. This article presents two clinical observations
of papulonodular juvenile xanthogranuloma, specification of epidemiological data, clinical and histological peculiarities of the disease. Due to difficulty diagnosing and low incidence of this form of the disease, specific attention is given to the issues of differential diagnosis; the article also present an algorithm for examining patients with suspected juvenile xanthogranuloma in order to rule out a systemic process.

Pain is one of the most common symptoms associated with a wide range of diseases. Ability to assess correctly and terminate pain is one of the key skills of a pediatrician. The article presents the modern data on pain physiology, humoral theory of pain syndrome development and clinical manifestations of neuropathic and nociceptive pain. The article presents the main issues of diagnosis and measurement of pain as one of the fundamental principles of pain syndrome management. On March 1, 2012, the World Health Organization published the new guidelines on the treatment of persistent pain syndrome in children. The article also provides recommendations on transition from the three-step “anesthetizing ladder” to the two-step one, which consists in the use of nonnarcotic, narcotic, adjuvant analgesics and combinations thereof.

Effective and safe treatment of acute respiratory infections is one of the urgent issues of pediatrics. The most common and primary symptom of acute and chronic respiratory diseases and one of the most frequent causes of hospital visits among both children and adults is cough. Pharmacotherapy of cough involves use of the drugs improving bronchial drainage function and restoring adequate mucociliary clearance; use of antitussive drugs when indicated; antibiotic therapy in the event of the confirmed bacterial infection. The article presents data on the use of ready-made forms of phytopreparations for respiratory diseases. In particular, it demonstrates effectiveness of plantain syrup (for dry cough) and primula syrup (for productive cough).

The primary objective in the mucoviscidosis therapy is to ensure normal rheology of respiratory secretion for effective evacuation
thereof from the bronchial tree and nasal sinuses. Enzyme drug dornase alfa features the best evidence base for effectiveness and safety of use to treat mucoviscidosis among mucolytics; it rapidly transforms thick viscous sputum into liquid secretion. Along with that, numerous studies have confirmed anti-inflammatory and antibacterial effects thereof: the enzyme breaks down biofilm of the mucoid Pseudomonas aeruginosa, thus reducing volume of the destructive component in pulmonary tissue in the event of an inflammation; it is capable of decreasing concentration of neutrophil elastase and interleukin 8 in sputum, as well as of matrix metal proteinases in bronchoalveolar lavage. Continuous intake of this drug in combination with kinesitherapy and other baseline drugs ensures the patient’s well-being, lower rate of bronchopulmonary process exacerbations, reduction in the hospital admission rate and significant improvement of the quality of life.