Folkhälsan Institute of Genetics, University of Helsinki, P. O. Box 63, FIN-00014, Helsinki, Finland.
Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
Curr Osteoporos Rep. 2017 Aug;15(4):303-310. doi: 10.1007/s11914-017-0388-6.
This review summarizes our current knowledge on primary osteoporosis in children with focus on recent genetic findings.
Advances in genetic research, particularly next-generation sequencing, have found several genetic loci that associate with monogenic forms of inherited osteoporosis, widening the scope of primary osteoporosis beyond classical osteogenesis imperfecta. New forms of primary osteoporosis, such as those related to WNT1, PLS3, and XYLT2, have identified defects outside the extracellular matrix components and collagen-related pathways, in intracellular cascades directly affecting bone cell function. Primary osteoporosis can lead to severe skeletal morbidity, including abnormal longitudinal growth, compromised bone mass gain, and noticeable fracture tendency beginning at childhood. Early diagnosis and timely care are warranted to ensure the best achievable bone health. Future research will most likely broaden the spectrum of primary osteoporosis, hopefully provide more insight into the genetics governing bone health, and offer new targets for treatment.
本文综述了儿童原发性骨质疏松症的最新研究进展，重点介绍了近期的遗传学发现。
遗传研究的进展，特别是下一代测序技术，发现了几个与单基因遗传性骨质疏松症相关的基因座，将原发性骨质疏松症的范围扩大到经典的成骨不全症之外。新形式的原发性骨质疏松症，如与 WNT1、PLS3 和 XYLT2 相关的骨质疏松症，已经确定了细胞外基质成分和胶原相关途径之外的缺陷，在直接影响骨细胞功能的细胞内级联反应中。原发性骨质疏松症可导致严重的骨骼发病率，包括异常的纵向生长、骨量获得受损，以及从儿童期开始就明显的骨折倾向。早期诊断和及时治疗是确保获得最佳骨健康的必要条件。未来的研究很可能会扩大原发性骨质疏松症的范围，有望更深入地了解骨骼健康的遗传基础，并为治疗提供新的靶点。
