Ravaglia Sabrina, Pichiecchio Anna, Rossi Miriam, Filippi Paola De, Minelli Antonella, Moglia Arrigo, Danesino Cesare
Institute of Neurology IRCCS 'C. Mondino', University of Pavia, Pavia, Italy,
J Inherit Metab Dis. 2006 Aug;29(4):590. doi: 10.1007/s10545-006-0144-z. Epub 2006 Jun 19.
Eight patients with adult-onset type II glycogenosis (GSD II), all carrying the IVS1-13T<G mutation, were treated with high-protein isocaloric diet for 3 years. We evaluated the usefulness of this approach through the assessment of the skeletal muscles (by manual muscle testing, quantitative isokinetic exercise, and muscle MRI) and the respiratory function (by spirometry). Three patients with mild or moderate disease severity refused the diet and were still monitored for comparison: they showed clinical (2 patients) or clinicoradiological (1 patient) progression of muscle weakness, while respiratory function remained unchanged. Among the patients accepting the dietary treatment, muscle strength remained unchanged, as did the degree of fatty infiltration and atrophy as assessed by muscle MRI; respiratory function worsened in 2/5 patients with severe baseline respiratory dysfunction. High-protein diet may stabilize disease progression at the skeletal muscles, but does not produce significant clinical improvements; moreover, the usefulness of this approach in patients with severe respiratory disease seems questionable.
8例成年起病的II型糖原贮积病（GSD II）患者，均携带IVS1-13T<G突变，接受高蛋白等热量饮食治疗3年。我们通过评估骨骼肌（通过徒手肌力测试、定量等速运动和肌肉MRI）和呼吸功能（通过肺活量测定）来评估这种方法的有效性。3例疾病严重程度为轻度或中度的患者拒绝饮食，仍进行监测以作比较：他们出现了肌无力的临床进展（2例患者）或临床放射学进展（1例患者），而呼吸功能保持不变。在接受饮食治疗的患者中，肌肉力量保持不变，肌肉MRI评估的脂肪浸润和萎缩程度也保持不变；2/5基线呼吸功能严重障碍的患者呼吸功能恶化。高蛋白饮食可能会稳定骨骼肌的疾病进展，但不会产生显著临床改善；此外，这种方法在严重呼吸系统疾病患者中的有效性似乎值得怀疑。
