Pompe-kór fenotípusvariációi, kórlefolyása és az enzimpótló kezelés eredményei: Hazai tapasztalatok

Translated title of the contribution: Clinical manifestation, disease course and response to enzyme replacement therapy in Hungarian patients with Pompe's disease

Benjamin Bereznai, Anita Trauninger, Ilona György, Katalin Szakszon, Zsuzsanna Almássy, Endre Pál, Ágnes Herczegfalvi, Katalin Várdi Visy, Zsolt Illés, Mária Judit Molnár

Research output: Contribution to journalArticle

Abstract

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. Orv. Hetil., 2011, 152, 1569-1575.

Translated title of the contributionClinical manifestation, disease course and response to enzyme replacement therapy in Hungarian patients with Pompe's disease
Original languageHungarian
Pages (from-to)1569-1575
Number of pages7
JournalOrvosi hetilap
Volume152
Issue number39
DOIs
Publication statusPublished - Sep 1 2011

ASJC Scopus subject areas

  • Medicine(all)

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    Bereznai, B., Trauninger, A., György, I., Szakszon, K., Almássy, Z., Pál, E., Herczegfalvi, Á., Várdi Visy, K., Illés, Z., & Molnár, M. J. (2011). Pompe-kór fenotípusvariációi, kórlefolyása és az enzimpótló kezelés eredményei: Hazai tapasztalatok. Orvosi hetilap, 152(39), 1569-1575. https://doi.org/10.1556/OH.2011.29184