Levasseur Régis
a Rheumatology Department, Angers Teaching Hospital, Service de Rhumatologie et Pôle ostéo-articulaire, CHU d'Angers, Inserm U922, Faculté de Médecine d'Angers, 4 rue Larrey, 49460 Angers, France.
Expert Rev Endocrinol Metab. 2008 May;3(3):337-348. doi: 10.1586/17446651.3.3.337.
Osteoporosis-pseudoglioma syndrome (OPPG; MIM 259770) is a very rare genetic disorder with an autosomal recessive mode of inheritance, characterized by congenital or infancy-onset visual loss and skeletal fragility, diagnosed during childhood. This syndrome can lead to severe disability and chronic bone pain. Low-density lipoprotein receptor-related protein 5 (LRP5) is the gene mutated and inactivated in OPPG, and plays a pivotal role in bone accrual and skeletal remodeling by controlling bone formation through activators, such as Wnt proteins, or inhibitors, such as DKK1. OPPG should be differentiated from osteogenesis imperfecta and child abuse by clinicians. Eye examination, coupled to bone phenotype and research of LRP5 mutation, are key points to diagnose OPPG. Chronic pain should be managed correctly in this syndrome with severe functional disability. Bisphosphonates allows fracture prevention, the catch-up of bone mineral density and improvement in mobility in children with OPPG. New drugs favoring osteoblast function and osteoclast inhibition are potential candidates in the treatment of OPPG.
骨质疏松-假性胶质瘤综合征（OPPG；MIM 259770）是一种非常罕见的遗传性疾病，呈常染色体隐性遗传模式，其特征为先天性或婴儿期出现视力丧失和骨骼脆弱，在儿童期被诊断出来。该综合征可导致严重残疾和慢性骨痛。低密度脂蛋白受体相关蛋白5（LRP5）是OPPG中发生突变并失活的基因，通过控制诸如Wnt蛋白等激活剂或DKK1等抑制剂来调节骨形成，在骨累积和骨骼重塑中起关键作用。临床医生应将OPPG与成骨不全和虐待儿童相鉴别。眼部检查、结合骨表型以及对LRP5突变的研究是诊断OPPG的关键点。对于这种伴有严重功能残疾的综合征，应正确处理慢性疼痛。双膦酸盐可预防骨折、提高骨矿物质密度并改善OPPG患儿的活动能力。促进成骨细胞功能和抑制破骨细胞的新药是治疗OPPG的潜在候选药物。
