Lowe T G, Edgar M, Margulies J Y, Miller N H, Raso V J, Reinker K A, Rivard C H
Woodridge Orthopaedic and Spine Center, Wheat Ridge, Colorado 80033, USA.
J Bone Joint Surg Am. 2000 Aug;82(8):1157-68. doi: 10.2106/00004623-200008000-00014.
Current population studies characterize idiopathic scoliosis as a single-gene disorder that follows the patterns of mendelian genetics, including variable penetrance and heterogeneity. The role of melatonin and calmodulin in the development of idiopathic scoliosis is likely secondary, with indirect effects on growth mechanisms. Reported abnormalities of connective tissue, skeletal muscle, platelets, the spinal column, and the rib cage are all thought to be secondary to the deformity itself. Although no consistent neurological abnormalities have been identified in patients with idiopathic scoliosis, it is possible that a defect in processing by the central nervous system affects the growing spine. The true etiology of idiopathic scoliosis remains unknown; however, it appears to be multifactorial.
目前的人群研究将特发性脊柱侧凸描述为一种遵循孟德尔遗传模式的单基因疾病,包括可变外显率和异质性。褪黑素和钙调蛋白在特发性脊柱侧凸发展中的作用可能是次要的,对生长机制有间接影响。报道的结缔组织、骨骼肌、血小板、脊柱和胸廓异常都被认为是畸形本身的继发表现。尽管在特发性脊柱侧凸患者中尚未发现一致的神经学异常,但中枢神经系统处理过程中的缺陷可能会影响正在生长的脊柱。特发性脊柱侧凸的真正病因仍然未知;然而,它似乎是多因素的。