Demos J, Tuil D, Berthelon M, Katz P, Broyer M, Riberi P, Testard R, Rognon L M, Pillet J, Collin P
J Neurol Sci. 1976 Nov;30(1):41-53. doi: 10.1016/0022-510x(76)90254-9.
From his first years a child showed signs of a primary and rapidly developing muscular dystrophy. The diagnosis was established by an increased serum CK level and by electromyography and muscle biopsies. Afterwards this child developed a severe renal deficiency which needed binephrectomy and the graft of a normal kidney. During the few months just after the graft, the disability increased and the patient could not stand upright by himself. Later on, he gradually became able to walk on his own and without bracing. He could climb stairs and stand up from the floor. The CK activity returned to normal. At present, 4 years after the graft (the patient is 16 years), the improvement of his functional abilities is constant, although the CK activity has increased again. In this article we give evidence that this patient suffers from a primary muscular dystrophy. We discuss the type of dystrophy concerned. We believe that it is the graft of a normal kidney which was responsible for the improvement observed, and not the physiotherapy or the drugs administered after the graft.
从幼年起，这个孩子就表现出原发性且迅速发展的肌肉萎缩症迹象。血清肌酸激酶（CK）水平升高、肌电图检查以及肌肉活检确诊了该病。之后，这个孩子出现了严重的肾功能不全，需要进行双侧肾切除并移植一个正常肾脏。在移植后的几个月里，残疾状况加剧，患者无法独自站立。后来，他逐渐能够独立行走且无需支撑。他可以爬楼梯并从地上站起来。CK活性恢复正常。目前，移植后4年（患者16岁），尽管CK活性再次升高，但他的功能能力持续改善。在本文中，我们证明该患者患有原发性肌肉萎缩症。我们讨论了相关的萎缩症类型。我们认为，是正常肾脏的移植导致了所观察到的改善，而非移植后的物理治疗或药物治疗。
