Review of Clinical Recommendations for Kawasaki Disease/Syndrome

The article presents the detailed key provisions of the clinical recommendations on providing medical care to children with Kawasaki syndrome/illness, developed by the professional association of pediatric specialists — the Union of Pediatricians of Russia. The current data on the prevalence of pathology is presented, the characteristic diagnostic signs of the disease are given that allow to make a diagnosis as soon as possible and immediately appoint a specific treatment. Therapeutic measures carried out in the required volume determine the further prognosis. The comprehensive approach to the management of pediatric patients with this nosology presented in the article will ensure a high level of medical care quality provided to children with Kawasaki syndrome

Обзор клинических рекомендаций по болезни/синдрому Кавасаки

The article presents the detailed key provisions of the clinical recommendations on providing medical care to children with Kawasaki syndrome/illness, developed by the professional association of pediatric specialists — the Union of Pediatricians of Russia. The current data on the prevalence of pathology is presented, the characteristic diagnostic signs of the disease are given that allow to make a diagnosis as soon as possible and immediately appoint a specific treatment. Therapeutic measures carried out in the required volume determine the further prognosis. The comprehensive approach to the management of pediatric patients with this nosology presented in the article will ensure a high level of medical care quality provided to children with Kawasaki syndrome.В статье подробно представлены ключевые положения клинических рекомендаций по оказанию медицинской помощи детям с синдромом/болезнью Кавасаки, разработанных профессиональной ассоциацией детских специалистов — Союзом педиатров России. Изложены современные данные о распространенности патологии, приведены характерные диагностические признаки болезни, позволяющие максимально своевременно установить диагноз и незамедлительно назначить специфическое лечение. Терапевтические мероприятия, проведенные в необходимом объеме, определяют дальнейший прогноз. Представленный в статье комплексный подход к ведению пациентов детского возраста с данной нозологией позволит обеспечить высокий уровень качества оказываемой медицинской помощи детям с синдромом Кавасаки

EFFICACY AND SAFETY OF ENZYME REPLACEMENT THERAPY IN CHILDREN WITH MUCOPOLYSACCHARIDOSIS TYPE I, II, AND VI: A SINGLE-CENTER COHORT STUDY

Background. There are limited data on the efficacy of long-term enzyme replacement therapy (ERT) in children with mucopolysaccharidosis (MPS).Objective. Our aim was to study the efficacy and safety of long-term ERT in children with MPS type I, II, and VI.Methods. We analyzed the results of ERT with laronidase, idursulfase, and galsulfase in children with MPS type I, II, and VI admitted to the federal research center from January 2007 to November 2016. The response rate was assessed by the level of normalized urinary excretion of glycosaminoglycans (GAGs) (the ratio of GAGs concentration to urine creatinine) recalculated in percent (%) exceedance of the upper limit of normal for the corresponding age. Data on the administered therapy and its results, including adverse events, is extracted from the medical records of in-patients.Results. The results of treatment (intravenous infusions, intervals between administrations from 4 to 10 days) were studied in 33 children (5 of them were girls) with MPS type I (n = 4; laronidase at a dose of 0.58 mg/kg), II (n = 26; idursulfase at a dose of 0.5 mg/kg), and VI (n = 3; galsulfase at a dose of 1 mg/kg). A decrease in the normalized urinary excretion of GAGs from 376% (172; 791) to 54% (0; 146) exceedance of the upper limit of normal for the age (p < 0.001) was noted in the course of ERT lasting (median) 27 (14; 41) months. A decrease in the normalized GAGs excretion below the upper limit of normal for the age was established in 12/33 (36%) patients. ERT-associated adverse events were identified in 12 patients; one case required a two-fold therapy interruption. The development of nephrotic syndrome in the course of ERT in patients with severe MPS II was first described.Conclusion. Long-term ERT in children with MPS type I, II, and VI is characterized by acceptable efficacy and safety. Key words: children, mucopolysaccharidosis, enzyme replacement therapy, laronidase, idursulfase, galsulfase, glycosaminoglycans