Swenson M R, Rimmer S, Schneider J A, Melles R B, Trauner D A, Katz B
Department of Neurosciences, University of California, School of Medicine, San Diego.
Arch Neurol. 1991 May;48(5):528-9. doi: 10.1001/archneur.1991.00530170092026.
Cystinosis is an autosomal recessive metabolic disorder in which nonprotein cystine accumulates within most body tissues due to a defect in lysosomal cystine transport. Neurologic declarations are only recently being recognized. We studied 13 cystinotic subjects (aged 5 to 21 years old), determining median motor and sensory nerve conduction velocities, F waves, peroneal motor nerve conduction velocities, sural sensory nerve conduction velocities, median sympathetic skin response, electrocardiogram R-to-R variability, and blink reflex analysis. The results were normal. We conclude that neurophysiologic testing suggests relative sparing of the peripheral nervous system in nephropathic cystinosis.
胱氨酸病是一种常染色体隐性代谢紊乱疾病，由于溶酶体胱氨酸转运缺陷，非蛋白胱氨酸在大多数身体组织中蓄积。直到最近才认识到其神经系统表现。我们研究了13名胱氨酸病患者（年龄5至21岁），测定了运动和感觉神经传导速度中位数、F波、腓总运动神经传导速度、腓肠感觉神经传导速度、正中交感神经皮肤反应、心电图R-R间期变异性以及瞬目反射分析。结果均正常。我们得出结论，神经生理学检测表明肾病性胱氨酸病患者的外周神经系统相对未受影响。
