Open AccessEnzyme Replacement Therapy and Hematopoietic Stem Cell Transplantation Results in Patients with Hurler Syndrome: Clinical Cases
Author(s) -
Nato D. Vashakmadze,
Л. С. Намазова-Баранова,
Н. В. Журкова,
Е. Ю. Захарова,
С. В. Михайлова,
Г. В. Ревуненков
Publication year - 2019
Publication title -
voprosy sovremennoj pediatrii
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.12
H-Index - 5
eISSN - 1682-5535
pISSN - 1682-5527
DOI - 10.15690/vsp.v18i3.2037
Subject(s) - enzyme replacement therapy , hepatosplenomegaly , hurler syndrome , hematopoietic stem cell transplantation , medicine , mucopolysaccharidosis , mucopolysaccharidosis type i , mucopolysaccharidosis i , transplantation , lysosomal storage disease , hunter syndrome , wiskott–aldrich syndrome , pediatrics , stem cell , disease , mucolipidosis , hematopoietic stem cell , haematopoiesis , biology , enzyme , biochemistry , genetics , gene
Mucopolysaccharidosis type I (MPS I) is the hereditary disease characterized with alpha-L-iduronidase activity decrease and further accumulation of heparan and dermatan sulfate in lysosomes. MPS I is rare autosomal recessive disorder with incidence of 0.5–4 cases on 100.000 live-birth infants. Meantime there two approaches in MPS I treatment: hematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT). HSCT can be the best option for treatment of patients with severe MPS I (Hurler syndrome). Successful engraftment moderates such clinical signs as obstructive airway diseases, hepatosplenomegaly, cardiovascular system dysfunctions. HSCT prevents cognitive functions decline and other pathologic features of central nervous system. Presented clinical cases show various clinical courses according to age of diagnosis, ERT onset and HSCT implementation.