Clinical, cellular, microscopic, and ultrastructural studies of a case of fibrogenesis imperfecta ossium  

作　　者：Melissa L Barron Mark S Rybchyn Sutharshani Ramesh Rebecca S Mason S Fiona Bonar Paul Stalley Sundeep Khosla Bernie Hudson Christopher Arthur Edward Kim Roderick J Clifton-Bligh Phillip B Clifton-Bligh 

机构地区：[1]Department of Physiology, School of Medical Sciences, Bosch Institute, University of Sydney, Sydney 2006, New South Wales, Australia [2]Douglas HanlyMoir Pathology, Macquarie Park 2113, New South Wales, Australia [3]Department of Orthopaedics, Royal Prince Alfred Hospital,Camperdown 2050, New South Wales, Australia [4]Department of Endocrinology, Mayo Clinic, Rochester 55905, MN, USA [5]Department of Microbiology, Royal North Shore Hospital, St Leonards 2065, New South Wales, Australia [6]Department ofMicrobiology, Royal North Shore Hospital, St Leonards 2065, New South Wales, Australia [7]Department of Haematology, Royal North Shore Hospital, St Leonards 2065, New South Wales, Australia [8]Department of Endocrinology, Royal North Shore Hospital, St Leonards 2065, New SouthWales, Australia and [9]Faculty of Medicine, University of Sydney, Sydney 2006, New South Wales, Australia

出　　处：《Bone Research》2017年第2期123-136,共14页骨研究（英文版）

摘　　要：Fibrogenesis imperfecta ossium is a rare disorder of bone usually characterized by marked osteopenia and associated with variable osteoporosis and osteosclerosis, changing over time. Histological examination shows that newly formed collagen is abnormal, lacking birefringence when examined by polarized light. The case presented demonstrates these features and, in addition, a previously undocumented finding of a persistent marked reduction of the serum C3 and C4. Osteoblasts established in culture from a bone biopsy showed abnormal morphology on electron microscopy and increased proliferation when cultured with benzoylbenzoyl-ATP and 1,25-dihydroxyvitamin D, contrasting with findings in normal osteoblasts in culture. A gene microarray study showed marked upregulation of the messenger RNA(mRNA) for G-protein-coupled receptor 128(GPR 128), an orphan receptor of unknown function and also of osteoprotegerin in the patient's osteoblasts in culture. When normal osteoblasts were cultured with the patient's serum, there was marked upregulation of the mRNA for aquaporin 1. A single pathogenetic factor to account for the features of this disorder has not been defined, but the unique findings described here may facilitate more definitive investigation of the abnormal bone cell function.Fibrogenesis imperfecta ossium is a rare disorder of bone usually characterized by marked osteopenia and associated with variable osteoporosis and osteosclerosis, changing over time. Histological examination shows that newly formed collagen is abnormal, lacking birefringence when examined by polarized light. The case presented demonstrates these features and, in addition, a previously undocumented finding of a persistent marked reduction of the serum C3 and C4. Osteoblasts established in culture from a bone biopsy showed abnormal morphology on electron microscopy and increased proliferation when cultured with benzoylbenzoyl-ATP and 1,25-dihydroxyvitamin D, contrasting with findings in normal osteoblasts in culture. A gene microarray study showed marked upregulation of the messenger RNA(mRNA) for G-protein-coupled receptor 128(GPR 128), an orphan receptor of unknown function and also of osteoprotegerin in the patient's osteoblasts in culture. When normal osteoblasts were cultured with the patient's serum, there was marked upregulation of the mRNA for aquaporin 1. A single pathogenetic factor to account for the features of this disorder has not been defined, but the unique findings described here may facilitate more definitive investigation of the abnormal bone cell function.

关 键 词：ultrastructural CELLULAR CLINICAL 

分 类 号：R68[医药卫生—骨科学]