Experience with the Enzyme Substitution Therapy in Mucopolysaccharidosis
Skúsenosti s enzýmovou substitučnou liečbou u mukopolysacharidózy
Autori vo svojom príspevku popisujú významný pokrok v liečbe dedičných metabolických porúch na úrovni lyzozómov a konkrétne možnosti kauzálnej liečby u niektorých z nich. Podrobne rozoberajú svoje najdlhšie praktické skúsenosti s kauzálnou liečbou mukopolysacharidózy typ I (MPS I). Pacientka s non-neuropatickou formou MPS I má od svojho 10. roku života tretí rok podávanú enzýmovú substitučnú liečbu laronidázou (preparát Aldurazyme). Počas tejto terapie je pravidelne prehodnocovaný efekt liečby objektívnymi testami. Napriek pozitívnym výsledkom týchto testov však ešte stále pretrváva pomerne výrazná somatická stigmatizácia. Podstatne sa však zlepšila najmä samoobslužnosť pacientky.
Kľúčové slová:
lyzozómové ochorenia, mukopolysacharidóza typ I a typ VI., Gaucherova choroba, Fabryho choroba, Pompeho choroba, enzýmová substitučná liečba
Authors:
A. Hlavatá; L. Kovács
Authors‘ workplace:
2. Detská klinika LFUK a DFNsP, Bratislava
prednosta prof. MUDr. L. Kovács, DrSc., MPH
Published in:
Čes-slov Pediat 2006; 61 (10): 593-598.
Category:
Case Report
Overview
The authors describe the important progress in the therapy of hereditary metabolic disorders at the lysosome level and specifically the possibilities of causal therapy in some of them. They analyze in detail their longest practical experience with causal therapy of mucopolysaccharidosis type I (MPS I). A female patient with neuropathic form of MPS I has been treated since her ten years of age for three years with the enzyme substitution therapy with laronidase (preparation Aldurazyme). Effects of this therapy have been regularly evaluated by objective tests in the course of treatment. In spite of positive results of these tests a relatively significant somatic stigmatization is still present. The self-service of the patient is the most prominent feature of improvement.
Key words:
lysosomal diseases, mucopolysaccharidosis type I and type VI, Gaucher diseases, Fabry disease, Pompe disease, enzyme substitution therapy
Labels
Neonatology Paediatrics General practitioner for children and adolescentsArticle was published in
Czech-Slovak Pediatrics
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