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[Adult form of Pompe disease].
Pneumonol Alergol Pol 2008; 76(5):396-9PA

Abstract

Pompe disease (glycogen-storage disease type II) is an autosomal recessive disorder caused by a deficiency of lysosomal acid alpha-glucosidase (GAA), leading to the accumulation of glycogen in the lysosomes primarily in muscle cells. In the adult form of the disease, proximal muscle weakness is noted and muscle volume is decreased. The infantile form is usually fatal. In the adult form of the disease the prognosis is relatively good. Muscle weakness may, however, interfere with normal daily activities, and respiratory insufficiency may be associated with obstructive sleep apnea. Death usually results from respiratory failure. Effective specific treatment is not available. Enzyme replacement therapy with recombinant human GAA (rh-GAA) still remains a research area. We report the case of a 24-year-old student admitted to the Department of Pulmonary Diseases because of severe respiratory insufficiency. Clinical symptoms such as dyspnea, muscular weakness and increased daytime sleepiness had been progressing for 2 years. Clinical examination and increased blood levels of CK suggested muscle pathology. Histopathological analysis of muscle biopsy, performed under electron microscope, confirmed the presence of vacuoles containing glycogen. Specific enzymatic activity of alpha-glucosidase was analyzed confirming Pompe disease. The only effective method to treat respiratory insufficiency was bi-level positive pressure ventilation. Respiratory rehabilitation was instituted and is still continued by the patient at home. A high-protein, low-sugar diet was proposed for the patient. Because of poliglobulia low molecular weight heparin was prescribed. The patient is eligible for experimental replacement therapy with rh-GAA.

Authors+Show Affiliations

Klinika Pulmonologii, II Katedra Chorób Wewnetrznych Collegium Medicum Uniwersytetu Jagiellońskiego w Krakowie Kierownik Kliniki.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

pol

PubMed ID

19003770

Citation

Ziółkowska-Graca, Bozena, et al. "[Adult Form of Pompe Disease]." Pneumonologia I Alergologia Polska, vol. 76, no. 5, 2008, pp. 396-9.
Ziółkowska-Graca B, Kania A, Zwolińska G, et al. [Adult form of Pompe disease]. Pneumonol Alergol Pol. 2008;76(5):396-9.
Ziółkowska-Graca, B., Kania, A., Zwolińska, G., & Nizankowska-Mogilnicka, E. (2008). [Adult form of Pompe disease]. Pneumonologia I Alergologia Polska, 76(5), pp. 396-9.
Ziółkowska-Graca B, et al. [Adult Form of Pompe Disease]. Pneumonol Alergol Pol. 2008;76(5):396-9. PubMed PMID: 19003770.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Adult form of Pompe disease]. AU - Ziółkowska-Graca,Bozena, AU - Kania,Aleksander, AU - Zwolińska,Grazyna, AU - Nizankowska-Mogilnicka,Ewa, PY - 2008/11/13/pubmed PY - 2009/2/28/medline PY - 2008/11/13/entrez SP - 396 EP - 9 JF - Pneumonologia i alergologia polska JO - Pneumonol Alergol Pol VL - 76 IS - 5 N2 - Pompe disease (glycogen-storage disease type II) is an autosomal recessive disorder caused by a deficiency of lysosomal acid alpha-glucosidase (GAA), leading to the accumulation of glycogen in the lysosomes primarily in muscle cells. In the adult form of the disease, proximal muscle weakness is noted and muscle volume is decreased. The infantile form is usually fatal. In the adult form of the disease the prognosis is relatively good. Muscle weakness may, however, interfere with normal daily activities, and respiratory insufficiency may be associated with obstructive sleep apnea. Death usually results from respiratory failure. Effective specific treatment is not available. Enzyme replacement therapy with recombinant human GAA (rh-GAA) still remains a research area. We report the case of a 24-year-old student admitted to the Department of Pulmonary Diseases because of severe respiratory insufficiency. Clinical symptoms such as dyspnea, muscular weakness and increased daytime sleepiness had been progressing for 2 years. Clinical examination and increased blood levels of CK suggested muscle pathology. Histopathological analysis of muscle biopsy, performed under electron microscope, confirmed the presence of vacuoles containing glycogen. Specific enzymatic activity of alpha-glucosidase was analyzed confirming Pompe disease. The only effective method to treat respiratory insufficiency was bi-level positive pressure ventilation. Respiratory rehabilitation was instituted and is still continued by the patient at home. A high-protein, low-sugar diet was proposed for the patient. Because of poliglobulia low molecular weight heparin was prescribed. The patient is eligible for experimental replacement therapy with rh-GAA. SN - 0867-7077 UR - https://www.unboundmedicine.com/medline/citation/19003770/[Adult_form_of_Pompe_disease]_ L2 - http://czasopisma.viamedica.pl/pap/article/view/27877 DB - PRIME DP - Unbound Medicine ER -