Introduction: tyrosinemia type I - is a rare genetic disease that leads to cirrhosis of the liver, liver failure, and tubulopathy. In this connection, great importance is early diagnosis and timely initiation of pathogenetic treatment of the disease. Goal. Based on multivariate statistical analysis of clinical diagnostic indicators and their changes over time to develop an algorithm stepwise diagnosis of hereditary tyrosinemia type I in children and to evaluate the effectiveness of pathogenetic therapy. The scope and methods. The study included 17 children (8 boys and 9 girls) with tyrosinemia type I: 5 patients (29.4%) with type IA and 12 patients (70.6%) with the IB type. All children received pathogenetic therapy of NTBC. Conducted the study of history and the life of the patients of the disease, we evaluated the clinical and laboratory data at the onset of the disease and on the background of a six-month course of pathogenetic therapy. Results. Using multivariate statistical analysis revealed clinical and laboratory criteria for diagnosis of tyrosinemia type 1 in young children, followed by incremental compilation disease diagnostic algorithm. The estimation of the severity of liver dysfunction before and 6 months after initiation of specific therapy, which has proven its improvement.

научный биометрический журнал, который знакомит читателя с клиническими рекомендациями и особенностями применения лекарственных и вакцинных средств у детей, предоставляет исчерпывающую информацию о воздействии лекарственных средств на плод, о проводимых в

In recent years in expanding diagnostic capabilities and improved knowledge level diseases that were previously considered rare become increasingly identified. Along with the achievements of the pharmaceutical industry, timely diagnosis and adequate therapy appointment can often save the life of the child and delay the progression of the disease. This article focuses on a rare, genetically determined, pathology of lysosomal diseases group, inherited autosomal recessively — NPD type C. Different versions of the clinical course and diagnostic methods are showed in details. Take account of the existing in our country hypo diagnostics of this disease, the authors propose to put into practice a diagnostic algorithm «index of suspicion of the disease NP-C» in order to improve detection and timely initiation of pathogenetic therapy. Key words: rare diseases, storage diseases, lysosomal diseases, Niemann-Pick disease type C, diagnostics, clinical course, treatment, children. ( Pediatric pharmacology. — 2011; 8 (6): 114–118).

The paper is devoted to one of the rare genetically determined diseases — mucopolysaccharidosis. Despite the great achievement of science — the development of the pathogenetic enzyme replacement therapy, many challenges remain. Among them — the lack of timely diagnosis, causing delayed treatment and disease progression, the lack of a national register of patients with common approaches to treatment and rehabilitation of these patients. Objective and subjective obstacles to resolving these problems are demonstrated. The authors developed and represent an efficient system for providing high quality medical care for children with MPS which consists of hospital and rehabilitation phases to colleagues. In addition, the article highlights the issues and postinfuzional reactions during enzyme replacement therapy. Key words: mucopolysaccharidosis, the organization of medical care, diagnosis, treatment, enzyme replacement therapy, the organization of infusion, rehabilitation, supervision, children. ( Pediatric Pharmacology. — 2011; 8 (5): 6–12.)

Article is devoted to one of the orphan diseases — mucopolysaccharidosis (MPS), which is the result of any lysosomal enzyme deficiency (which determines the type of illness). The most common is the MPS type II (Hunter syndrome), developing as a result of deficiency of the enzyme alpha-L-iduronosulphatsulphataze. The authors are observing the largest group of children with this pathology in the Russian population — 40 patients. On the example of their own clinical cases the only existing on the date the pathogenetic treatment is provided — replacement therapy with idursulphase that significantly improves the disease prognosis. Key words: MPS, types, Hunter syndrome, clinical course, diagnosis, treatment, prognosis, children.

The article is devoted to the 29th Congress of the European Academy of Allergy and Clinical Immunology (EAACI-2010) held in the June of 2010 in London. The authors cover in great detail the actual issues related to the prevention, diagnostics and treatment of atopic diseases. The article provides results of research and experiments. It outlines the current views on preand postnatal risk factors for developing allergies. It also illustrates the latest data on allergy diagnostics and capabilities of microchips.

The article describes the therapy for atopic dermatitis with topical glucocorticosteroids. Parameters of the «ideal» topical cortico steroid are provided: strong anti-inflammatory effect, low systemic bioavailability, quick action onset, minimal side effects, multiplicity of pharmaceutical forms. It describes results of a number of clinical trials for efficacy and safety of using mometasone furoate in children, a pharmaceutical product close enough to the «ideal» characteristics of a topical corticosteroid. Key words: atopic dermatitis, topical glucocorticosteroids, mometasone furoate, children, safety.