Genetic aspects of the Paget’s disease of bone: concerns on the introduction of DNA‐based tests in the clinical practice. Advantages and disadvantages of its application

Falchetti, Alberto; Marini, Francesca; Masi, Laura; Amedei, Antonietta; Luisa, Brandi Maria

doi:10.1111/j.1365-2362.2010.02312.x

Cited by 9 publications

(3 citation statements)

References 103 publications

(185 reference statements)

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“…To date, the etiology of the disease is still unclear, and both environmental factors and genetic susceptibility are thought to be involved 22. The disease is characterized by focal increase of bone remodeling and disorganization of normal lamellar structure of the tissue, with consequent susceptibility to bone fractures, pain, and deformities.…”

Section: Clinical Use Of Neridronatementioning

confidence: 99%

Clinical development of neridronate: potential for new applications

Gatti

Rossini²,

Viapiana³

et al. 2013

TCRM

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Neridronate is an aminobisphosphonate, licensed in Italy for the treatment of osteogenesis imperfecta (OI) and Paget’s disease of bone (PDB). A characteristic property of neridronate is that it can be administered both intravenously and intramuscularly, providing a useful system for administration in homecare. In this review, we discuss the latest clinical results of neridronate administration in OI and PDB, as well as in osteoporosis and other conditions. We will focus in particular on the latest evidence of the effect of neridronate on treatment of complex regional pain syndrome type I.

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Section: Clinical Use Of Neridronatementioning

confidence: 99%

Clinical development of neridronate: potential for new applications

Gatti

Rossini²,

Viapiana³

et al. 2013

TCRM

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“…Therefore, from a practical point of view, even in the lack of specific comparative studies among the different diagnostic tools, it can reasonably be suggested that all first-degree relatives of pagetic patients should in any case undergo a periodic screening of at least t-ALP (or other bone turnover markers), generally starting from 40 years of age, or earlier if the affected relative had an onset of the disease at an even earlier age. This will make possible to carry out adequate surveillance and to identify early the presence of PDB (especially polyostotic forms), hopefully still in a pre-/asymptomatic form, and thus establish any appropriate therapy in order to prevent disease progression [ 51 ]. In fact, the assessment of t-ALP appears as the simplest, largely available, cheapest, appropriate, and thus cost-effective tool as compared to the measurement of other bone turnover markers, or the use of X-rays and bone scan.…”

Section: Results and Recommendationsmentioning

confidence: 99%

“…Moreover, ZNF687 mutations have been associated to a particularly increased risk of neoplastic degeneration in GCT, while either GCTs or osteosarcomas have been often described in the pedigrees with PFN1 mutation [ 14 , 56 , 57 ]. To date, specific guidelines addressing when and why perform genetic screening in PDB are still lacking and certainly additional information is required to address whether genetic testing may have a good cost–benefit ratio for all PDB patients [ 51 ]. However, based on the available clinical information, we suggest that genetic screening could be performed in familial PDB cases and in all PDB patients with early onset (< 50 years), polyostotic PDB.…”

Section: Results and Recommendationsmentioning

confidence: 99%

Diagnosis and treatment of Paget’s disease of bone: position paper from the Italian Society of Osteoporosis, Mineral Metabolism and Skeletal Diseases (SIOMMMS)

Rendina,

Falchetti,

Diacinti

et al. 2024

J Endocrinol Invest

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Introduction Paget’s disease of bone is a focal skeletal disorder causing bone deformities and impairing bone quality. Despite the prevalence of asymptomatic cases is increasing, the progression of the disease can lead to invalidating complications that compromise the quality of life. Doubts on clinical and therapeutic management aspects exist, although beneficial effects of antiresorptive drugs, particularly bisphosphonates are known. However, limited information is available from randomized controlled trials on the prevention of disease complications so that somewhat contrasting positions about treatment indications between expert panels from the main scientific societies of metabolic bone diseases exist. This task force, composed by expert representatives appointed by the Italian Society of Osteoporosis, Mineral Metabolism and Skeletal Diseases and members of the Italian Association of Paget’s disease of bone, felt the necessity for more specific and up to date indications for an early diagnosis and clinical management. Methods Through selected key questions, we propose evidence-based recommendations for the diagnosis and treatment of the disease. In the lack of good evidence to support clear recommendations, available information from the literature together with expert opinion of the panel was used to provide suggestions for the clinical practice. Results and conclusion Description of the evidence quality and support of the strength of the statements was provided on each of the selected key questions. The diagnosis of PDB should be mainly based on symptoms and the typical biochemical and radiological features. While treatment is mandatory to all the symptomatic cases at diagnosis, less evidence is available on treatment indications in asymptomatic as well as in previously treated patients in the presence of biochemical recurrence. However, given the safety and long-term efficacy of potent intravenous bisphosphonates such as zoledronate, a suggestion to treat most if not all cases at the time of diagnosis was released.

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Genotype–phenotype correlation in Juvenile Paget disease: role of molecular alterations of the TNFRSF11B gene

et al. 2012

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Juvenile Paget disease (JPD) {MIM 239000} is a rare inherited bone disease that affects children. The patients affected with JPD present an altered bone turnover, therefore, show a phenotype characterized by progressive bone deformities, fractures, and short stature. Deletions or missense mutations of the TNFRSN11B gene are common in these children. This gene encodes a soluble protein, the osteoprotegerin, which leads to uncontrolled osteoclastogenesis when mutated. JPD is characterized by a strong genotype-phenotype correlation, so depending on the alteration of the TNFRSN11B gene, the phenotype is variable. This review describes the different clinical features which are characteristic of JPD and the correspondence with the different molecular alterations of the TNFRSN11B gene.

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Genetic aspects of the Paget’s disease of bone: concerns on the introduction of DNA‐based tests in the clinical practice. Advantages and disadvantages of its application

Cited by 9 publications

References 103 publications

Clinical development of neridronate: potential for new applications

Clinical development of neridronate: potential for new applications

Diagnosis and treatment of Paget’s disease of bone: position paper from the Italian Society of Osteoporosis, Mineral Metabolism and Skeletal Diseases (SIOMMMS)

Genotype–phenotype correlation in Juvenile Paget disease: role of molecular alterations of the TNFRSF11B gene

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