al-Rasheed S A, al-Mohrij O, al-Jurayyan N, al-Herbish A, al-Mugeiren M, al-Salloum A, al-Hussain M, el-Desouki M
Department of Paediatrics, King Khalid University Hospital, Riyadh, Saudi Arabia.
Int J Clin Pract. 1998 Jan-Feb;52(1):15-8.
Over a 10-year period, 28 Arab children with autosomal recessive osteopetrosis were seen in two hospitals in Riyadh, Saudi Arabia. Eighteen (64%) had osteopetrosis associated with metabolic acidosis probably due to a renal tubular defect; nine (32%) had a malignant infantile form of osteopetrosis and one had a mild form with delayed onset. Parental consanguinity was 56% and 40% among patients with and without acidosis respectively. Somatic and psychomotor retardation and recurrent bone fractures were common in both groups. Dental caries, cerebral calcification and optic atrophy were more frequent in patients with acidosis, while anaemia, hepatosplenomegaly and deafness were more common in patients without acidosis. To guarantee optimal rehabilitation, children with this progressive disease require an early multiteam approach.
在10年期间，沙特阿拉伯利雅得的两家医院共诊治了28名患有常染色体隐性骨硬化症的阿拉伯儿童。其中18名（64%）患有与代谢性酸中毒相关的骨硬化症，可能是由于肾小管缺陷所致；9名（32%）患有恶性婴儿型骨硬化症，1名患有轻度且发病较晚的骨硬化症。有酸中毒和无酸中毒患者的父母近亲结婚率分别为56%和40%。两组患者均常见躯体和精神运动发育迟缓以及反复骨折。酸中毒患者龋齿、脑钙化和视神经萎缩更为常见，而无酸中毒患者贫血、肝脾肿大和耳聋更为常见。为确保最佳康复效果，患有这种进行性疾病的儿童需要早期采取多团队协作的方法。
