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- W2154593412 abstract "Paget's disease of bone is a common disease characterised by focal areas of increased bone turnover, affecting one or several bones throughout the skeleton. Paget's disease is often asymptomatic but can be associated with bone pain and other complications such as osteoarthritis, pathological fracture, bone deformity, deafness, and nerve compression syndromes. Genetic factors have an important role in this disease, and mutations have been identified in four genes that cause Paget's disease and related syndromes. The most important of these is Sequestosome 1 (SQSTM1), which is a scaffold protein in the nuclear factor kappaB (NFkappaB) signalling pathway. Patients with SQSTM1 mutations have severe Paget's disease of bone and a high degree of penetrance with increasing age. Environmental factors also contribute. Most research has focused on paramyxovirus infection as a possible trigger, but evidence for this notion is conflicting. Other potential triggers include deficiency of dietary calcium and repetitive mechanical loading of the skeleton. Medical management of Paget's disease of bone is based on giving inhibitors of osteoclastic bone resorption, and bisphosphonates are the treatment of first choice. Bisphosphonate therapy is primarily indicated for patients who have bone pain arising from increased metabolic activity in affected bones. Bisphosphonate therapy is highly effective at reducing bone turnover, and it has been shown to heal radiological lesions and restore normal histology; however, the long-term effects of bisphosphonates on disease progression have not been adequately studied. No firm evidence as yet exists to show that bisphosphonates can prevent the development of complications of Paget's disease of bone, and further work is needed to address the effects of treatment on long-term clinical outcome." @default.
- W2154593412 created "2016-06-24" @default.
- W2154593412 creator A5007875733 @default.
- W2154593412 creator A5024239960 @default.
- W2154593412 creator A5036667571 @default.
- W2154593412 date "2008-07-01" @default.
- W2154593412 modified "2023-10-10" @default.
- W2154593412 title "Pathogenesis and management of Paget's disease of bone" @default.
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- W2154593412 doi "https://doi.org/10.1016/s0140-6736(08)61035-1" @default.
- W2154593412 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/18620951" @default.