Rodríguez-Gómez Irene, Santalla Alfredo, Díez-Bermejo Jorge, Munguía-Izquierdo Diego, Alegre Luis M, Nogales-Gadea Gisela, Arenas Joaquin, Martín Miguel Ángel, Lucía Alejandro, Ara Ignacio
GENUD Toledo Research Group, Universidad de Castilla-La Mancha, Toledo, SPAIN.
Med Sci Sports Exerc. 2018 Jan;50(1):3-10. doi: 10.1249/MSS.0000000000001414.
INTRODUCTION-PURPOSE: McArdle disease (muscle glycogen phosphorylase deficiency) is a genetic condition associated with exercise intolerance, but how it affects lean mass (LM) and bone mineral content (BMC) and density (BMD) in patients is unknown. We compared these variables between McArdle patients and age-/sex-matched healthy controls and assessed their potential association with physical activity levels in patients.
A case-control, cross-sectional design was used to examine LM, BMC, and BMD by using dual-energy x-ray absorptiometry in 136 young adults of both sexes (36 McArdle patients (33 ± 15 yr) and 103 controls (34 ± 11 yr)). Physical activity was assessed using the International Physical Activity Questionnaire.
McArdle patients had significantly lower LM values in whole-body and regional sites compared with their corresponding controls, whereas no differences were found (except for the trunk) when physically active patients (n = 23) were compared with controls. All bone-related variables were significantly lower in patients than in controls (average difference of 13% for BMC and 7.6% for BMD). By contrast, no significant differences at the lumbar spine, pelvis, and femur sites were found between physically active patients and controls.
We report on a previously undescribed condition in McArdle patients, poor bone health, which warrants further attention because it can occur in relatively young adults. An active lifestyle can at least partly alleviate this disorder presumably because of its beneficial effect on LM.
引言 - 目的：麦克尔迪氏病（肌肉糖原磷酸化酶缺乏症）是一种与运动不耐受相关的遗传病，但它如何影响患者的瘦体重（LM）、骨矿物质含量（BMC）和骨密度（BMD）尚不清楚。我们比较了麦克尔迪氏病患者与年龄和性别匹配的健康对照者之间的这些变量，并评估了它们与患者身体活动水平的潜在关联。
采用病例对照横断面设计，通过双能X线吸收法对136名年轻成年人（36名麦克尔迪氏病患者（33±15岁）和103名对照者（34±11岁））的LM、BMC和BMD进行检测。使用国际体力活动问卷评估身体活动情况。
与相应对照者相比，麦克尔迪氏病患者全身和局部部位的LM值显著较低，而在将身体活跃的患者（n = 23）与对照者进行比较时，未发现差异（除躯干外）。患者所有与骨相关的变量均显著低于对照者（BMC平均差异为13%，BMD平均差异为7.6%）。相比之下，身体活跃的患者与对照者在腰椎、骨盆和股骨部位未发现显著差异。
我们报告了麦克尔迪氏病患者中一种此前未被描述的情况，即骨骼健康状况不佳，这值得进一步关注，因为它可能发生在相对年轻的成年人中。积极的生活方式至少可以部分缓解这种疾病，可能是因为它对LM有有益影响。
