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

B. 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.

Original languageHungarian
Pages (from-to)1569-1575
Number of pages7
JournalOrvosi Hetilap
Volume152
Issue number39
DOIs
Publication statusPublished - Sep 1 2011

Fingerprint

Glycogen Storage Disease Type II
Enzyme Replacement Therapy
Muscular Diseases
Extremities
Cardiomyopathies
Age of Onset
Respiratory Insufficiency
Phenotype

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Bereznai, B., Trauninger, A., György, I., Szakszon, K., Almássy, Z., Pál, E., ... 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

Pompe-kór fenotípusvariációi, kórlefolyása és az enzimpótló kezelés eredményei : Hazai tapasztalatok. / Bereznai, B.; Trauninger, Anita; György, Ilona; Szakszon, Katalin; Almássy, Zsuzsanna; Pál, Endre; Herczegfalvi, Ágnes; Várdi Visy, Katalin; Illés, Zsolt; Molnár, Mária Judit.

In: Orvosi Hetilap, Vol. 152, No. 39, 01.09.2011, p. 1569-1575.

Research output: Contribution to journalArticle

Bereznai, B, Trauninger, A, György, I, Szakszon, K, Almássy, Z, Pál, E, Herczegfalvi, Á, Várdi Visy, K, Illés, Z & Molnár, MJ 2011, 'Pompe-kór fenotípusvariációi, kórlefolyása és az enzimpótló kezelés eredményei: Hazai tapasztalatok', Orvosi Hetilap, vol. 152, no. 39, pp. 1569-1575. https://doi.org/10.1556/OH.2011.29184
Bereznai, B. ; Trauninger, Anita ; György, Ilona ; Szakszon, Katalin ; Almássy, Zsuzsanna ; Pál, Endre ; Herczegfalvi, Ágnes ; Várdi Visy, Katalin ; Illés, Zsolt ; Molnár, Mária Judit. / Pompe-kór fenotípusvariációi, kórlefolyása és az enzimpótló kezelés eredményei : Hazai tapasztalatok. In: Orvosi Hetilap. 2011 ; Vol. 152, No. 39. pp. 1569-1575.
@article{efe4bf8497334fb6a8b792e07f1f1533,
title = "Pompe-k{\'o}r fenot{\'i}pusvari{\'a}ci{\'o}i, k{\'o}rlefoly{\'a}sa {\'e}s az enzimp{\'o}tl{\'o} kezel{\'e}s eredm{\'e}nyei: Hazai tapasztalatok",
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.",
keywords = "acid maltase, alpha-glucosidase, enzyme replacement therapy, Pompe's disease",
author = "B. Bereznai and Anita Trauninger and Ilona Gy{\"o}rgy and Katalin Szakszon and Zsuzsanna Alm{\'a}ssy and Endre P{\'a}l and {\'A}gnes Herczegfalvi and {V{\'a}rdi Visy}, Katalin and Zsolt Ill{\'e}s and Moln{\'a}r, {M{\'a}ria Judit}",
year = "2011",
month = "9",
day = "1",
doi = "10.1556/OH.2011.29184",
language = "Hungarian",
volume = "152",
pages = "1569--1575",
journal = "Orvosi Hetilap",
issn = "0030-6002",
publisher = "Akademiai Kiado",
number = "39",

}

TY - JOUR

T1 - Pompe-kór fenotípusvariációi, kórlefolyása és az enzimpótló kezelés eredményei

T2 - Hazai tapasztalatok

AU - Bereznai, B.

AU - Trauninger, Anita

AU - György, Ilona

AU - Szakszon, Katalin

AU - Almássy, Zsuzsanna

AU - Pál, Endre

AU - Herczegfalvi, Ágnes

AU - Várdi Visy, Katalin

AU - Illés, Zsolt

AU - Molnár, Mária Judit

PY - 2011/9/1

Y1 - 2011/9/1

N2 - 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.

AB - 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.

KW - acid maltase

KW - alpha-glucosidase

KW - enzyme replacement therapy

KW - Pompe's disease

UR - http://www.scopus.com/inward/record.url?scp=80053374155&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=80053374155&partnerID=8YFLogxK

U2 - 10.1556/OH.2011.29184

DO - 10.1556/OH.2011.29184

M3 - Article

C2 - 21920843

AN - SCOPUS:80053374155

VL - 152

SP - 1569

EP - 1575

JO - Orvosi Hetilap

JF - Orvosi Hetilap

SN - 0030-6002

IS - 39

ER -