Ziółkowska-Graca Bozena, Kania Aleksander, Zwolińska Grazyna, Nizankowska-Mogilnicka Ewa
Klinika Pulmonologii, II Katedra Chorób Wewnetrznych Collegium Medicum Uniwersytetu Jagiellońskiego w Krakowie Kierownik Kliniki.
Pneumonol Alergol Pol. 2008;76(5):396-9.
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.
庞贝病（II型糖原贮积病）是一种常染色体隐性疾病，由溶酶体酸性α-葡萄糖苷酶（GAA）缺乏引起，导致糖原主要在肌肉细胞的溶酶体中蓄积。在成人型疾病中，可观察到近端肌无力且肌肉体积减小。婴儿型通常是致命的。在成人型疾病中，预后相对较好。然而，肌无力可能会干扰正常的日常活动，呼吸功能不全可能与阻塞性睡眠呼吸暂停有关。死亡通常由呼吸衰竭导致。目前尚无有效的特异性治疗方法。重组人GAA（rh-GAA）酶替代疗法仍处于研究阶段。我们报告了一名24岁学生的病例，该学生因严重呼吸功能不全入住肺病科。诸如呼吸困难、肌无力和日间嗜睡加重等临床症状已持续进展两年。临床检查及血液中肌酸激酶水平升高提示存在肌肉病变。在电子显微镜下进行的肌肉活检组织病理学分析证实存在含糖原的空泡。对α-葡萄糖苷酶的特异性酶活性进行分析，确诊为庞贝病。治疗呼吸功能不全的唯一有效方法是双水平正压通气。已开展呼吸康复治疗，患者在家中仍在继续进行。为患者建议了高蛋白、低糖饮食。由于红细胞增多症，开具了低分子量肝素。该患者符合rh-GAA实验性替代疗法的条件。
