Online citations, reference lists, and bibliographies.
← Back to Search

Characteristics Of Early Paget's Disease In SQSTM1 Mutation Carriers: Baseline Analysis Of The ZiPP Study Cohort

O. Cronin, D. Subedi, L. Forsyth, K. Goodman, S. Lewis, C. Keerie, A. Walker, M. Porteous, R. Cetnarskyj, R. Lakshminarayan, P. Selby, G. Hampson, R. Chandra, S. Ho, J. Tobias, Steven Young Min, M. McKenna, R. Crowley, W. Fraser, Jonathan C Y Tang, L. Gennari, R. Nuti, M. Brandi, J. del Pino-Montes, J. Devogelaer, A. Durnez, G. Isaia, M. Di Stefano, J. B. Rubió, N. Guañabens, M. Seibel, J. Walsh, M. Kotowicz, G. Nicholson, E. Duncan, G. Major, A. Horne, N. Gilchrist, S. Ralston
Published 2020 · Medicine

Save to my Library
Download PDF
Analyze on Scholarcy Visualize in Litmaps
Share
Reduce the time it takes to create your bibliography by a factor of 10 by using the world’s favourite reference manager
Time to take this seriously.
Get Citationsy
Mutations in SQSTM1 are strongly associated with Paget's disease of bone (PDB), but little is known about the clinical characteristics of those with early disease. Radionuclide bone scans, biochemical markers of bone turnover, and clinical characteristics were analyzed in SQSTM1 mutation carriers who took part in the Zoledronic acid in the Prevention of Paget's disease (ZiPP) study. We studied 222 individuals, of whom 54.9% were female, with mean ± SE age of 50.1 ± 0.6 years. Twelve SQSTM1 mutations were observed, including p.Pro392Leu, which was present in 141 of 222 (63.5%) subjects. Bone scan examination revealed evidence of PDB in 20 subjects (9.0%), ten of whom (50%) had a single affected site. Participants with lesions were older than those without lesions but the difference was not significant (53.6 ± 9.1 versus 49.8 ± 8.9; p = .07). The mean age of participants with lesions was not significantly different from the age at which their parents were diagnosed with PDB (55 years versus 59 years, p = .17). All individuals with lesions were asymptomatic. Serum concentrations of total alkaline phosphatase (ALP) normalized to the upper limit of normal in each center were higher in those with lesions (0.75 ± 0.69 versus 0.42 ± 0.29 arbitary units; p < .0001). Similar findings were observed for other biochemical markers of bone turnover, but the sensitivity of ALP and other markers in detecting lesions was poor. Asymptomatic PDB is present in about 9% of SQSTM1 mutation carriers by the fifth decade. Further follow‐up of this cohort will provide important information on the natural history of early PDB and its response to treatment. © 2020 The Authors. Journal of Bone and Mineral Research published by American Society for Bone and Mineral Research.
This paper references
[Familial Paget's disease].
G. Desse (1957)
Bone scanning in evaluation of Paget's disease of bone.
P. Shirazi (1974)
10.1097/00003086-197709000-00006
Skeletal scintimaging and radiography in the diagnosis and management of Paget's disease.
H. Wellman (1977)
10.1016/S0009-9260(80)80230-3
A comparison of bone scanning and radiology in the evaluation of patients with metabolic bone disease.
I. Fogelman (1980)
10.1097/00003086-198704000-00006
Skeletal distribution and biochemical parameters of Paget's disease.
P. Meunier (1987)
10.1359/jbmr.2002.17.3.465
Incidence and Natural History of Paget's Disease of Bone in England and Wales
T. van Staa (2002)
10.1086/340731
Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone.
N. Laurin (2002)
10.1093/HMG/11.22.2735
Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease.
L. Hocking (2002)
10.1056/NEJMOA044241
Comparison of a single infusion of zoledronic acid with risedronate for Paget's disease.
I. Reid (2005)
10.1359/jbmr.06s207
Sequestosome 1: Mutation Frequencies, Haplotypes, and Phenotypes in Familial Paget's Disease of Bone
J. Morissette (2006)
10.1359/jbmr.061204
Delayed Development of Paget's Disease in Offspring Inheriting SQSTM1 Mutations
M. Bolland (2007)
10.1359/jbmr.090709
Randomized trial of intensive bisphosphonate treatment versus symptomatic management in paget's disease of bone
A. Langston (2010)
10.1002/jbmr.132
Mutations of SQSTM1 are associated with severity and clinical outcome in paget disease of bone
M. Visconti (2010)
Randomised trial of intensive bisphosphonate treatment versus symptomatic management in Paget’s disease of bone
AL Langston (2010)
10.1002/jbmr.438
A single infusion of zoledronic acid produces sustained remissions in paget disease: Data to 6.5 years
I. Reid (2011)
10.1007/s00223-014-9904-1
Clinical Presentation of Paget’s Disease: Evaluation of a Contemporary Cohort and Systematic Review
A. Tan (2014)
10.1111/cen.12741
Evolution of Paget's disease of bone in adults inheriting SQSTM1 mutations
T. Cundy (2015)
10.1016/j.bone.2016.01.007
Development of a molecular test of Paget's disease of bone.
S. Guay-Bélanger (2016)
10.1002/14651858.CD004956.pub3
Bisphosphonates for Paget's disease of bone in adults.
L. Corral-Gudino (2017)
10.1002/jbmr.3066
Long‐Term Randomized Trial of Intensive Versus Symptomatic Management in Paget's Disease of Bone: The PRISM‐EZ Study
A. Tan (2017)
10.1002/jbmr.3657
Diagnosis and Management of Paget's Disease of Bone in Adults: A Clinical Guideline
S. Ralston (2019)
10.1136/bmjopen-2019-030689
Zoledronate in the prevention of Paget’s (ZiPP): protocol for a randomised trial of genetic testing and targeted zoledronic acid therapy to prevent SQSTM1-mediated Paget’s disease of bone
O. Cronin (2019)
10.1016/j.bone.2019.115044
Familial Paget's disease of bone: Long-term follow-up of unaffected relatives with and without Sequestosome 1 mutations.
J. J. Peeters (2019)



This paper is referenced by
Semantic Scholar Logo Some data provided by SemanticScholar