Franceschi Roberto, Vincenzi Monica, Camilot Marta, Antoniazzi Franco, Freemont Anthony J, Adams Judith E, Laine Christine, Makitie Outi, Mughal M Zulf
Department of Mother and Child, Biology-Genetics, Section of Pediatrics, University of Verona, P.le L.A. Scuro 10, 37134, Verona, Italy,
Calcif Tissue Int. 2015 Jun;96(6):575-9. doi: 10.1007/s00223-015-9983-7. Epub 2015 Mar 18.
We report clinical findings, bone mineral density (BMD) and bone biopsy data in ten children with features of classic idiopathic juvenile osteoporosis (IJO). We also screened the patients for mutations in LRP5 and LRP6. We found low BMD in the lumbar spine, the hip and distal radius. In the spine and distal radius, the reduction in BMD was more marked in the trabecular compartment. Biopsy confirmed that the trabecular compartment is more severely involved with reduction in bone formation and increase in bone resorption. No mutations in LRP5 and LRP6 could be identified. IJO is likely to be a heterogeneous bone disorder, and next-generation genomic sequencing studies may help reveal causative genes.
我们报告了10例具有典型特发性青少年骨质疏松症（IJO）特征的儿童的临床检查结果、骨密度（BMD）和骨活检数据。我们还对这些患者进行了LRP5和LRP6基因突变筛查。我们发现腰椎、髋部和桡骨远端的骨密度较低。在脊柱和桡骨远端，骨密度降低在小梁骨部分更为明显。活检证实小梁骨部分受累更严重，骨形成减少且骨吸收增加。未发现LRP5和LRP6基因突变。IJO可能是一种异质性骨病，下一代基因组测序研究可能有助于揭示致病基因。
