[Clinical manifestations, course and outcome of enzyme replacement therapy in Hungarian patients with Pompe's disease]. / Pompe-kór fenotípusvariációi, kórlefolyása és az enzimpótló kezelés eredményei: hazai tapasztalatok.
Orv Hetil
; 152(39): 1569-75, 2011 Sep 25.
Article
em Hu
| MEDLINE
| ID: mdl-21920843
ABSTRACT
UNLABELLED Pompe's disease is an autosomal recessive disease caused by deficiency of acid-alpha-glucosidase. AIMS AND METHODS:
Authors analyzed the phenotype of 11 Hungarian patients with Pompe's disease and evaluated clinical parameters and response to enzyme replacement therapy during a long-term follow-up in 8 patients.RESULTS:
One patient with atypical infantile form presented with cardiomyopathy and a very slow progression of motor deficits; after 2 years of enzyme replacement therapy no disability was present at the age 6 years. Another patient was asymptomatic at the age of 2.5 years. The adult onset form was characterized by slight to prominent limb-girdle myopathy with an age of onset between 20 and 50 years. In 3 of such cases respiratory insufficiency was also present.CONCLUSIONS:
Hungarian patients with Pompe's disease presented with a wide phenotypic variability ranging from atypical early childhood form with slowly progressive course to late-onset limb-girdle myopathy with variable courses. Enzyme replacement therapy resulted in significant improvement in motor and respiratory functions in most of the patients.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Insuficiência Respiratória
/
Doença de Depósito de Glicogênio Tipo II
/
Alfa-Glucosidases
/
Terapia de Reposição de Enzimas
Tipo de estudo:
Prognostic_studies
Limite:
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
/
Middle aged
País/Região como assunto:
Europa
Idioma:
Hu
Revista:
Orv Hetil
Ano de publicação:
2011
Tipo de documento:
Article