Ozand P T, Gascon G, al Aqeel A, Roberts G, Dhalla M, Subramanyam S B
Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.
J Inherit Metab Dis. 1990;13(6):849-61. doi: 10.1007/BF01800209.
The frequency of different types of lysosomal storage diseases in 125 referred cases, collected over three years, was compared to the occurrence elsewhere. The data suggest that mucopolysaccharidosis (MPS) type IVA (Morquio disease), multiple sulphatase deficiency, Niemann-Pick disease type B, GM2 gangliosidosis type '0' (Sandhoff disease), and ceroid lipofuscinosis (Jansky-Bielschowsky and Batten-Spielmeyer-Vogt syndromes) are encountered frequently in Saudi Arabia, as compared to other storage diseases. In contrast, some other diseases such as the adult variant of Gaucher's disease were not observed. Half of the GM2 gangliosidosis type '0' cases originated from one large tribe in the country. Other conditions did not show tribal predilection. The ceroid lipofuscinosis cases in Saudi Arabia originated from four large families. Consanguineous marriages taking place within tribal boundaries probably account for the pattern observed.
对三年内收集的125例转诊病例中不同类型溶酶体贮积病的发生频率与其他地区的情况进行了比较。数据表明，与其他贮积病相比，IVA型黏多糖贮积症（Morquio病）、多种硫酸酯酶缺乏症、B型尼曼-皮克病、“0”型GM2神经节苷脂贮积症（Sandhoff病）和类蜡样脂褐质增多症（Jansky-Bielschowsky和Batten-Spielmeyer-Vogt综合征）在沙特阿拉伯更为常见。相比之下，未观察到其他一些疾病，如成人型戈谢病。“0”型GM2神经节苷脂贮积症病例的一半来自该国的一个大部落。其他疾病未表现出部落偏好。沙特阿拉伯的类蜡样脂褐质增多症病例来自四个大家族。部落范围内的近亲结婚可能是观察到这种模式的原因。
