Bembi B, Ciana G, Martini C, Benettoni A, Gombacci A, Deganuto M, Pittis M G
Unità Operativa Dipartimentale di Malattie Metaboliche, Trieste, Italy.
J Inherit Metab Dis. 2003;26(7):675-81. doi: 10.1023/b:boli.0000005618.76542.ed.
Glycogenosis type II (GSD II) is a lysosomal storage disorder due to acid alpha-glucosidase deficiency. We report the results of a clinical multidisciplinary approach in two cases of nonclassical infantile GSD II. The patients received a high-protein diet by percutaneous enteral gastrostomy (PEG), mechanical ventilatory support by tracheostomy and a physiotherapy programme. After 12 months of treatment, the patients showed significant improvement in muscular strength, nutritional state and respiratory function. Electrocardiography (ECG) and echocardiography improved in both patients. They maintained good clinical conditions for a period of 18 and 20 months, respectively; thereafter they presented with an elevated and persistent fever that was not correlated to a septic status and was not responsive to any antipyretic treatment. They deteriorated progressively and died. This study shows how a multidisciplinary approach may be useful to improve, even if temporarily, the clinical course of nonclassical infantile GSD II.
II型糖原贮积病（GSD II）是一种由于酸性α-葡萄糖苷酶缺乏引起的溶酶体贮积症。我们报告了两例非典型婴儿型GSD II患者采用临床多学科治疗方法的结果。患者通过经皮内镜下胃造口术（PEG）接受高蛋白饮食，通过气管切开术接受机械通气支持，并接受物理治疗方案。治疗12个月后，患者的肌肉力量、营养状况和呼吸功能有显著改善。两名患者的心电图（ECG）和超声心动图均有所改善。他们分别在18个月和20个月的时间里保持了良好的临床状态；此后，他们出现了持续升高的发热，与脓毒症状态无关，且对任何退热治疗均无反应。他们逐渐恶化并死亡。这项研究表明，多学科治疗方法可能有助于改善，即使是暂时改善非典型婴儿型GSD II的临床病程。
