Article
Clinical features, treatment, and follow-up of OPPG and high-bone-mass disorders: LRP5 is a key regulator of bone mass.
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA - 1 Aug 2024
Ren Na, Lv Shanshan, Li Xiang, Shao Chong, Wang Ziyuan, Mei Yazhao, Yang Wendi, Fu Wenzhen, Hu Yunqiu, Sha Ling, Hu Weiwei, Zhang Zhenlin, Wang Chun
Abstract excerpt
Osteoporosis-pseudoglioma syndrome (OPPG) and LRP5 high bone mass (LRP5-HBM) are two rare bone diseases with opposite clinical symptoms caused by loss-of-function and gain-of-function mutations in LRP5. Bisphosphonates are an effective treatment for OPPG patients. LRP5-HBM has a benign course, and age-related bone loss is found in one LRP5-HBM patient. PURPOSE: Low-density lipoprotein receptor-related protein 5...
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