Педиатрическая фармакология (Oct 2022)
Modern Approaches to the Management of Children with Mucopolysaccharidosis Type I
- Galina V. Baidakova,
- Alexander A. Baranov,
- Irina V. Vakhlova,
- Nato D. Vashakmadze,
- Elena Yu. Voskoboeva,
- Ekaterina Yu. Zakharova,
- Ludmila M. Kuzenkova,
- Sergey I. Kutsev,
- Valentina I. Larionova,
- Tina V. Lobzhanidze,
- Ludmila K. Mikhailova,
- Svetlana V. Mikhailova,
- Sergey V. Moiseev,
- Leyla S. Namazova-Baranova,
- Sergey S. Nikitin,
- Natalya L. Pechatnikova,
- Olga A. Polyakova,
- Alla N. Semyachkina,
- Olga V. Udalova
Affiliations
- Galina V. Baidakova
- Medical Genetic Research Center named after N.P. Bochkov
- Alexander A. Baranov
- Pediatrics and Child Health Research Institute in Petrovsky National Research Centre of Surgery; Sechenov First Moscow State Medical University
- Irina V. Vakhlova
- Ural State Medical University
- Nato D. Vashakmadze
- Pediatrics and Child Health Research Institute in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical University
- Elena Yu. Voskoboeva
- Medical Genetic Research Center named after N.P. Bochkov
- Ekaterina Yu. Zakharova
- Medical Genetic Research Center named after N.P. Bochkov
- Ludmila M. Kuzenkova
- Sechenov First Moscow State Medical University; National Medical Research Center for Children's Health
- Sergey I. Kutsev
- Medical Genetic Research Center named after N.P. Bochkov
- Valentina I. Larionova
- Institute of Experimental Education
- Tina V. Lobzhanidze
- City clinical hospital № 64
- Ludmila K. Mikhailova
- National Medical Research Center for Traumatology and Orthopedics named after N.N. Priorov
- Svetlana V. Mikhailova
- Russian Children’s Clinical Hospital
- Sergey V. Moiseev
- Sechenov First Moscow State Medical University
- Leyla S. Namazova-Baranova
- Pediatrics and Child Health Research Institute in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical University; Belgorod National Research University
- Sergey S. Nikitin
- Association of neuro-muscular disorders specialists
- Natalya L. Pechatnikova
- Morozov Children’s City Hospital
- Olga A. Polyakova
- National Medical Research Center for Traumatology and Orthopedics named after N.N. Priorov
- Alla N. Semyachkina
- Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery
- Olga V. Udalova
- Privolzhsky Research Medical University
- DOI
- https://doi.org/10.15690/pf.v19i4.2443
- Journal volume & issue
-
Vol. 19,
no. 4
pp. 342 – 353
Abstract
This article presents modern data on epidemiology, etiology, and clinical manifestations of mucopolysaccharidosis (MPS) type I in children. MPS develops due to deficiency of particular lysosomal enzyme which determines the disease type. The article considers in details disease's pathogenesis and classification. Evidence-based approaches to diagnosis (differential diagnosis included) are covered, moreover, special attention is paid to pathogenetic, symptomatic, and surgical treatment of MPS.
Keywords
