Mucopolysaccharidosis I type: new management

Author:

Mikhaylova S. V.1ORCID,Slateckay A. N.2ORCID,Pristanskova E. A.2ORCID,Kirgizov K. I.2ORCID,Mendelevich O. V.2,Zazhivikhina M. V.2ORCID,Voroncova V. P.2ORCID,Zakharova E. Yu.3ORCID,Kamenec E. A.3ORCID,Voskoboeva E. Yu.3ORCID,Tatarova I. N.2,Donush E. K.2ORCID,Yurasova Yu. B.4ORCID,Bologov A. A.2ORCID,Skorobogatova E. V.2ORCID

Affiliation:

1. Russian Children's Clinical Hospital of Pirogov Russian National Research Medical University Ministry of Healthcare of Russian Federation; Medical Genetics Research Center; Russian National Research Medical University named after N.I. Pirogov.

2. Russian Children's Clinical Hospital of Pirogov Russian National Research Medical University Ministry of Healthcare of Russian Federation.

3. Medical Genetics Research Center.

4. Russian National Research Medical University named after N.I. Pirogov.

Abstract

Mucopolysaccharidosis I-Hurler (MPS I-H) is the most severe form of a metabolic genetic disease caused by mutations of IDUA gene encoding the lysosomal α-L-iduronidase enzyme. MPS I-H is a rare, life-threatening disease, evolving in multisystem morbidity including progressive neurological disease, upper airway obstruction, skeletal deformity and cardiomyopathy. Allogeneic hematopoietic stem cell transplantation (HSCT) is currently the gold standard for the treatment of MPS I-H in patients diagnosed and treated before 2–2.5 years of age, having a high rate of success. Enzyme replacement therapy (ERT) with human recombinant laronidase has also been demonstrated to be effective in ameliorating the clinical conditions of pre-transplant MPS I-H patients and in improving HSCT outcome, by peri-transplant co-administration. Nevertheless the long-term clinical outcome even after successful HSCT varies considerably, with a persisting residual disease burden. This review will focus on all these critical issues related to the management of MPS I-H.

Publisher

Fund Doctors, Innovations, Science for Children

Subject

Oncology,Hematology,Immunology,Immunology and Allergy,Pediatrics, Perinatology and Child Health

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