骨质疏松症是最常见的代谢性骨病,其特征是骨矿物质密度和骨强度明显下降,导致高发病率和死亡率相关的脆弱性骨折.骨质疏松症通常被认为是一个影响成人的全球性公共健康问题.另一方面,小儿骨质疏松症,却是一种新的和不断变化的领域,具有一定独特的诊断和临床挑战.虽然小儿骨质疏松症的预防和治疗和成人的相比在进展方面没有那么成熟,但是近来小儿骨质疏松症得到更广泛的认知和认可.一些基因突变和酶的缺陷已表明与原发性小儿骨质疏松症有关联.在这篇综述中,我们将讨论小儿骨质疏松症的属性,包括其突变可导致原发性骨质疏松症的候选基因和可能的诊断及预防方法.我们也将讨论在美国治疗小儿骨质疏松症的常规选项,以及在中国用来治疗儿童患者的骨质疏松症,骨软化症和佝偻病的推荐药物.本文的目的 是给我们目前对小儿骨质疏松症的了解做一个小结,并在小儿骨质疏松症的发病机制,诊断,预防和治疗方面能有更合适的方法进行讨论提供一个平台.%Osteoporosis is the most common metabolic bone disease characterized by a marked decrease in bone mineral density and strength, resulting in fragility fractures with high morbidity and mortality. Osteoporosis is generally identified as a global public health problem affecting adults. On the other hand, pediatric osteoporosis is a new and evolving field, with certain unique diagnostic and clinical challenges. Although the prevention and treatment of pediatric osteoporosis are less maturely established than those in adults, much more acknowledgement and recognition of pediatric osteoporosis has been gained recently. It has been indicated that some genetic mutations and enzyme deficiencies are associated with primary pediatric osteoporosis. In this review we discuss the properties of pediatric osteoporosis, including the candidate genes, mutations of which can lead to primary osteoporosis, and the possible diagnostic and prevention methods. We also discuss the general treatment options of pediatric osteoporosis in the US and the medication recommendations for children patients with osteoporosis, osteomalacia or rickets in China. This paper is aimed at summarizing our current understanding of pediatric osteoporosis and providing a platform for the discussion of more appropriate methods for the pathogenesis, diagnosis, prevention, and treatment of pediatric osteoporosis.
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