Search

Many orphan diseases in children require life-long and regular intravenous enzyme replacement therapy. The article describes the first Russian practice of implanting venous port systems in 12 patients with type I and II mucopolysaccharidosis and Pompe disease (6 months to 17 years old) to create long-term venous access. Currently, implantable venous port systems are used in 9 (75%) of 12 patients. 4 cases of thrombosis are observed in 3 patients. All of them have been successfully treated. 1 patient had a rotation of the port camera with a membrane facing downwards due to violation of an implantation technique. The camera was adjusted during the second operation.

Background: Uveitis is one of the most common extra-articular manifestations of juvenile idiopathic arthritis (JIA). Currently, the possibility of reducing the risk of uveitis in children with JIA by using methotrexate has been studied.Objective: Our aim was to analyze the results of treatment of children with JIA by studying the relation between the use of methotrexate and the risk of uveitis.Methods: A retrospective uncontrolled study. The case histories of patients with JIA who were treated for at least 2 years after the onset of the disease were studied. The results of treatment of patients who received and who did not receive methotrexate were studied (standard therapy — non-steroidal anti-inflammatory drugs and intra-articular injections of glucocorticoids). The established cases of uveitis were taken into account.Results: The study analyzed the results of observation of 281 children with JIA. In the methotrexate group, uveitis was detected in 22/191 (11.5%), and in the control group — in 42/90 (46.7%) of patients (OR 6.7; 95% CI 3.7–12.3). The time period between the onset of JIA and development of uveitis in two groups under study was the same and equal to 24 (12; 67) and 17 months (7; 35), respectively (p = 0.232). Multivariate regression analysis showed that the main predictors of uveitis were oligoarticular course of JIA (HR = 1.89), positive antinuclear antibody test (HR = 2.14), onset of JIA under the age of 5 (HR = 2.56), female gender (HR = 1.82),and the absence of methotrexate in the therapy (HR = 0.24).Conclusion: The treatment with methotrexate may reduce the risk of uveitis in patients with JIA. To confirm this hypothesis, randomized studies are needed.

Farber disease (lipogranulomatosis, OMIM 228000) — is extremely rare autosomal-recessive disorder from group of lysosomal storage disorders, due to deficiency of acid ceramidase activity enzyme. Farber disease has a lot of clinical masques and resembles to different inflammatory disorders, such as juvenile arthritis, chronic urticaria, larynx papillomatosis and others. Most effective therapeutic method is bone marrow transplantation, which leads to minimization of disabling and improve quality of life. Currently a medication for enzyme replacement therapy of Farber disease is produced and it is under the clinical trials. We describe clinical course of two patients with different types of Farber disease. First case — 10 years old boy with II–III type of disease, and second — with fatal outcome in the age of 4 years 3 months of boy with I (classical) type of Farber disease.

Mucopolysaccharidosis is the group of hereditary metabolic disorders; it is characterized by accumulation of glycosaminoglycans owing to storage of specific lysosomal enzymes. Background: Research objective was to study the influence of enzyme replacement therapy on a somatic state and psychomotor development of children with mucopolysaccharidosis type I and II of various severity in dynamics and to estimate its efficiency. Patients and methods: The data of five years' supervision over 13 patients with mucopolysaccharidosis type I and II is used in the research. During the work the therapy efficiency analysis is made by the following criteria: data of objective examinations, ultrasound investigation of liver, spleen and heart, quantitative determination of excretion of urine glycosaminoglycans, assessment of articular and abarticular affection by JADI scale, assessment of social age and social coefficient by Doll's scale. Results: The reliable distinctions in the contents of urine glycosaminoglycans and also by results of an objective assessment of the liver and spleen sizes and of ultrasonic research of the spleen area in 6 and 12 months of treatment in comparison with basic data are received. The reliable decrease in social coefficient indicator at the first stage of therapy is registered, and then distinctions have insignificant character. There was no essential dynamics of the articular status on treatment that is connected with process stabilization. There are no reliable evidences of both positive and negative dynamics on myocardium involvement, ultrasonic characteristics of the sizes of hepatic lobes. Conclusion: Enzyme replacement therapy is an effective method of treatment of somatic manifestations of various types of mucopolysaccharidosis.

Aim: to perform retrospective evaluation of tocilizumab (TCZ) treatment every 2 and 4 weeks. Patients and methods: 33 children with systemic juvenile idiopathic arthritis (sJIA) were observed. Results: children, who need TCZ treatment every 2 weeks had more severe sJIA course. Patients which were treated every 4 weeks had higher TCZ efficacy, no new cases of macrophage activation syndrome (MAS), lower frequency of organ involvement and relapses during TCZ treatment. In 5 (20,8%) children of this group the TCZ-free remission was achieved, and in 3/5 children total drug-free remission lasted the maximum 1085 days was reached. Only 1 children in 4 weeks group developed relapse which leaded to re-start of TCZ treatment with the same efficacy as at first. No patients, who were treated every 2 weeks experienced TCZ-free remission. Also 4 cases of MAS were detected in children who had MAS before the start of TCZ. In 3/4 TCZ was discontinued but in 1 MAS TCZ accompanied with corticosteroids was prolonged. No new MAS cases were detected during this study. Infusion reactions lead to TCZ discontinuation were in 9,1%. 1 death (3,0%) during the trial. Conclusions: we offered the set of clinical and laboratorial criteria of high and low risk patients who need TCZ treatment every 2 and 4 weeks consequently.Key words: systemic juvenile idiopathic arthritis, interleukine-6, tocilizumab.