Searchable abstracts of presentations at key conferences on calcified tissues

ba0005p457 | Other diseases of bone and mineral metabolism | ECTS2016

Mutant TGFβ1 in Camurati-Engelamann disease causes systemic manifestations and reproductive disorders more often than previously thought: report of eight Chinese families

Jiajue Ruizhi , Zhao Zhen , Wu Bo , Jiang Yan , Wang Ou , Li Mei , Xing Xiaoping , Xia Weibo

Camurati-Engelmann disease (CED) is a rare autosomal dominant bone disease with transforming growth factor-β1 (TGFβ1) gene mutation. In order to expand our limited knowledge of Chinese CED patients, we reported eight Chinese families (11 patients) diagnosed with CED. The study was approved the Department of Scientific Research of Peking Union Medical College Hospital. All the patients were evaluated genetically, clinically, biochemically and radiographically...

ba0005p459 | Other diseases of bone and mineral metabolism | ECTS2016

Clinical, Biochemical and Radiographic Spectrum of X-linked Hypophosphatemia in Adults

Wu Bo , Jiang Yan , Xu Lijun , Wang Ou , Li Mei , Xing Xiaoping , Xia Weibo

X-linked hypophosphatemic osteomalacia (XLH) is an inherited skeletal disorder. The pathogenesis of the disease is fibroblast growth factor 23 (FGF23) induced renal phosphate wasting, hypophosphatemia and inappropriate lower 1, 25-dihydroxy-vitamin D3 concentration, which lead to impaired bone mineralization. There are only a few studies focus on phenotype of XLH patients in adulthood. Therefore, this cross-sectional study systematically described anthropometric, cl...