Introduction: Paget's disease of bone (PDB) is a chronic disorder of bone turnover, characterized by increased osteoclast-mediated bone resorption and subsequent compensatory increase in new bone formation, resulting in a disorganized mosaic of woven and lamellar bone at the affected skeletal sites. As a result, bone pain, osteoarthritis, noticeable deformities, nerve compression syndromes, fractures and, less frequently, neoplastic degeneration can occur. Areas covered: The published literature has been critically appraised, focusing on three main areas: epidemiology, pathogenesis (particularly regarding SQSTM1 mutations and other genetic aspects) and treatment of PDB. Expert opinion: Over the last two decades, there have been major advances in our understanding of pathogenesis and management of PDB. Mutations in SQSTM1 gene (encoding p62) have been identified in a consistent proportion of familial cases and treatment opportunities have been recently improved with the use of intravenous aminobisphosphonate regimens, allowing long-term remission of the disease. However, further research is needed to explore: i) the molecular mechanisms leading to PDB in SQSTM1 mutation carriers; ii) the genetic cause of the disease in SQSTM1-negative patients; and iii) to identify in more detail the environmental triggers and the mechanisms by which they interact with genetic background to influence susceptibility to the disease.

Gennari, L., Merlotti, D., Rendina, D., Gianfrancesco, F., Esposito, T., Nuti, R. (2014). Paget's disease of bone: epidemiology, pathogenesis and pharmacotherapy. EXPERT OPINION ON ORPHAN DRUGS, 2(6), 591-603 [10.1517/21678707.2014.904225].

Paget's disease of bone: epidemiology, pathogenesis and pharmacotherapy

Gennari, L.;Merlotti, D.;Nuti, R.
2014-01-01

Abstract

Introduction: Paget's disease of bone (PDB) is a chronic disorder of bone turnover, characterized by increased osteoclast-mediated bone resorption and subsequent compensatory increase in new bone formation, resulting in a disorganized mosaic of woven and lamellar bone at the affected skeletal sites. As a result, bone pain, osteoarthritis, noticeable deformities, nerve compression syndromes, fractures and, less frequently, neoplastic degeneration can occur. Areas covered: The published literature has been critically appraised, focusing on three main areas: epidemiology, pathogenesis (particularly regarding SQSTM1 mutations and other genetic aspects) and treatment of PDB. Expert opinion: Over the last two decades, there have been major advances in our understanding of pathogenesis and management of PDB. Mutations in SQSTM1 gene (encoding p62) have been identified in a consistent proportion of familial cases and treatment opportunities have been recently improved with the use of intravenous aminobisphosphonate regimens, allowing long-term remission of the disease. However, further research is needed to explore: i) the molecular mechanisms leading to PDB in SQSTM1 mutation carriers; ii) the genetic cause of the disease in SQSTM1-negative patients; and iii) to identify in more detail the environmental triggers and the mechanisms by which they interact with genetic background to influence susceptibility to the disease.
2014
Gennari, L., Merlotti, D., Rendina, D., Gianfrancesco, F., Esposito, T., Nuti, R. (2014). Paget's disease of bone: epidemiology, pathogenesis and pharmacotherapy. EXPERT OPINION ON ORPHAN DRUGS, 2(6), 591-603 [10.1517/21678707.2014.904225].
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11365/973531