Pathogenesis and management of Paget's disease of bone

@article{Ralston2008PathogenesisAM,
  title={Pathogenesis and management of Paget's disease of bone},
  author={Stuart H. Ralston and Anne L. Langston and Ian R. Reid},
  journal={The Lancet},
  year={2008},
  volume={372},
  pages={155-163}
}
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… Expand
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TLDR
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The clinical features, diagnosis and management options for Paget disease of bone are outlined, with a single infusion of zoledronic acid the treatment of choice. Expand
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The recent identification of mutations in the CRTAP, LEPRE1, and PPIB genes in recessive forms has radically changed the classification of osteogenesis imperfecta and generated new pathophysiological hypotheses. Expand
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TLDR
Genome‐wide searches have identified several susceptibility loci for PDB and PDB‐like disorders, and mutations that cause these disorders have now been identified in four genes, all of which are involved in the RANK‐NF‐κB signaling pathway. Expand
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A review of 290 patients with Paget's disease of bone revealed 83% had one or more rheumatic syndromes. The most common finding was back pain (37%), most often related to an independentExpand
Epidemiology of Paget's disease of bone.
Summary Paget’s Disease of Bone (PDB), first described by James Paget in 1877, is characterized by rapid bone remodeling and the formation of bone that is structurally abnormal. The aetiology isExpand
A Clinical Approach to Diagnosis and Management of Paget's Disease of Bone
TLDR
A focal disorder of accelerated skeletal remodeling that can involve a single bone or multiple bones and leads to bone hypertrophy, cortical expansion, and an abnormal bone structure responsible for bone pain and bone deformity and skeletal fragility. Expand
A family study of Paget's disease of bone.
TLDR
Overall, the findings were consistent with the hypothesis that Paget's disease is caused by infection with a common and widespread virus superimposed on genetic variation for susceptibility and perhaps severity of the disease. Expand
Osteoprotegerin deficiency and juvenile Paget's disease.
TLDR
Juvenile Paget's disease can result from osteoprotegerin deficiency caused by homozygous deletion of TNFRSF11B, and serum levels of osteoclast differentiation factor were undetectable and markedly increased, respectively. Expand
Guidelines for diagnosis and management of Paget's disease of bone in Japan
TLDR
These guidelines provide basic information on the epidemiology, pathophysiology, clinical signs and symptoms, diagnosis, indications for treatment, and available therapy, including orthopedic surgery for Paget's disease of bone in Japan. Expand
Mutation Screening of the TNFRSF11A Gene Encoding Receptor Activator of NFkB (RANK) in Familial and Sporadic Paget's Disease of Bone and Osteosarcoma
TLDR
Mutation screening of the TNFRSF11A gene in patients with familial and sporadic Paget's disease as well as DNA extracted from Pagetic bone lesions, an osteosarcoma arising in PageticBone and six osteosARcoma cell lines indicate that TNFRL11A mutations contribute neither to the vast majority of cases of sporadic or familial PDB, nor to the development of osteosArcoma. Expand
Relation between signs and symptoms in Paget's disease of bone.
TLDR
It was shown that alkaline phosphatase is the more sensitive and hydroxyproline the more accurate of the biochemical signs, which may explain the frequent occurrence of normocalcaemic and hypercalcaemic hyperparathyroidism. Expand
Guidelines on the management of Paget's disease of bone.
TLDR
In assessing the evidence available, a working party derived from members of the Bone and Tooth Society and the National Association for the Relief of Paget’s Disease has adopted the guidelines prepared by the U.S. Agency for Health Care Policy and Research. Expand
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