Calcified Tissue International最新文献

{"title":"Fracture Risk Assessment in Metabolic Syndrome in Terms of Secondary Osteoporosis Potential. A Narrative Review.","authors":"Ferah Armutcu, Eugene McCloskey","doi":"10.1007/s00223-025-01341-5","DOIUrl":"10.1007/s00223-025-01341-5","url":null,"abstract":"<p><p>Osteoporosis is a major global public health problem with the associated bone fractures contributing significantly to both morbidity and mortality. In many countries, osteoporotic fractures will affect one in three women and one in five men over the age of 50. Similarly, diabetes, obesity, and metabolic syndrome (MetS) are among the leading public health problems due to their worldwide prevalence and burden on health budgets. Although seemingly disparate, metabolic disorders are known to affect bone health, and the interaction between fat and bone tissue is increasingly well understood. For example, it is now well established that diabetes mellitus (both type 1 and 2) is associated with fracture risk. In this narrative review, we focus on the potential link between MetS and bone health as expressed by bone mineral density and fracture risk. This narrative review demonstrates the association of MetS and its components with increased fracture risk, and also highlights the need for fracture risk assessment in patients with obesity and MetS.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"41"},"PeriodicalIF":3.3,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11842537/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143466887","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Severe Osteoporosis in an Adult Subject with RNU4-2 Gene Mutation.","authors":"Joshua Peñafiel-Sam, Irene Valenzuela, Pilar Peris","doi":"10.1007/s00223-025-01351-3","DOIUrl":"https://doi.org/10.1007/s00223-025-01351-3","url":null,"abstract":"<p><p>Recent studies have shown that RNU4-2 pathogenic gene variants are among the most frequent causes of monogenic neurodevelopmental disorders. We present an adult patient with a pathogenic variant in the RNU4-2 gene associated with the presence of severe osteoporosis. A 19-year-old male diagnosed with ReNU syndrome after years of extensive evaluation for a history of developmental delay, seizures, and hearing loss, was referred to our department for osteoporosis evaluation, presenting spontaneous humeral fracture at age 16, and a low-impact fibular fracture at age 8. Physical examination showed microcephaly, hypotelorism, thoracic asymmetry, and mild scoliosis, without bone tenderness. Extensive laboratory investigations, including hormonal study, excluded additional secondary causes of osteoporosis. Bone turnover markers were increased and dual-energy X-ray absorptiometry confirmed the presence of low bone mass (with a Z-score of - 1.9 in the lumbar spine, - 3.5 in the femoral neck, and - 3.7 in the total femur). Therapy with zoledronate acid was indicated. These observations suggests that ReNU syndrome includes bone disease in the clinical manifestations. Subjects with RNU4.2 mutations may present associated osteoporosis, indicating the need to evaluate the presence of bone disease in these individuals.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"40"},"PeriodicalIF":3.3,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143439907","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Basic and Clinical Scientists Working Together-Do We Make the Best of Both Worlds?","authors":"Willem F Lems, Athanasios D Anastasilakis, Christina Møller Andreasen, Julien Paccou, Tim Rolvien, Michaela Tencerova, Jan Tuckermann, Maria P Yavropoulou, Kent Søe","doi":"10.1007/s00223-025-01347-z","DOIUrl":"10.1007/s00223-025-01347-z","url":null,"abstract":"<p><p>Musculoskeletal disorders, affecting as many as 1.3 billion people worldwide, are the leading cause of disability and impose a substantial health and socioeconomic burden. Despite the high prevalence of these conditions, translational research in this field is far from optimal, highlighting the need for stronger collaboration between basic and clinical scientists. This paper, authored by members of the basic and clinical action groups of the European Calcified Tissue Society (ECTS) and endorsed by the Board of the ECTS, examines the key barriers to effective translational research in musculoskeletal diseases, including clinician workload, differences in professional language and culture, physical distance between research sites, and insufficient interdisciplinary funding. Through interviews with eight institutional managers across five European countries, we observed that in some institutions, the collaboration between basic scientists and clinicians was regarded as no concern (but with room for improvement), and in most institutions it was recognised as a serious issue. We found consensus on the importance of collaboration yet identified discrepancies in the provision of structural and financial support. Based on these findings, we propose strategic initiatives to bridge the gap between basic and clinical research. Suggested measures include dedicated translational funding, integrated research facilities, collaborative scientific forums, strategic collaborations, establishment of physician-scientists, and, finally, bringing basic and clinical researchers together in the same building or even in a combined department. Notable successes, such as the development of the anti-osteoporotic drugs, romosozumab and denosumab, underscore the value of a coordinated approach and exemplify how shared insights between laboratory research and clinical practice can lead to impactful therapeutic advances. Moving forward, we advocate for institutional commitments to foster a robust translational research environment, as well as tailored funding initiatives to support such efforts. This paper serves as a call for discussion and action to enhance interdisciplinary cooperation to advance musculoskeletal medicine and improve outcomes for patients with debilitating musculoskeletal diseases.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"39"},"PeriodicalIF":3.3,"publicationDate":"2025-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11828806/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143425159","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of Resistance Training on Bone During 40% Caloric Restriction in Growing Female Rats.","authors":"Ken D Sumida, Daniel L Smithers, Aaron Gerston, Kim A Lagerborg, S Victoria Jaque, Fred Caporaso","doi":"10.1007/s00223-025-01348-y","DOIUrl":"10.1007/s00223-025-01348-y","url":null,"abstract":"<p><p>There is a growing trend in the use of severe caloric restrictive diets among normal weight young females that can jeopardize bone health. Using an animal model, the purpose of this study was to determine whether resistance training (RT) could maintain bone health during a 6-week severe caloric restrictive (CR) diet in growing female rats. Twenty-four female rats (~ 8 weeks old) were randomly divided into the following groups: sedentary rats fed a normal diet (N = 8), sedentary rats fed a 40% CR diet (D = 8), and an RT group fed a 40% CR diet (DT = 8). The DT group climbed a vertical ladder four consecutive times (per exercise session) with weights appended to their tail 3 days/week for a total of 6 weeks. Tibial bone mineral density (BMD) was assessed using dual-energy X-ray absorptiometry scans and bone mechanical properties were measured. After 6 weeks, the body mass (Mean ± SD) of CR-fed groups (D & DT = 202.8 ± 10.7 g) was significantly lower than N (275.5 ± 25.3 g). Tibial BMD (g/cm²) for D (0.196 ± 0.012) was significantly lower vs. N (0.213 ± 0.013), resulting in a 7.9% decline. The tibial BMD for DT (0.206 ± 0.009) resulted in a 3.3% decline compared to N that was not significantly different. Bone mechanical properties were significantly greater for DT compared to D, but not significantly different compared to N. Resistance training has the potential to maintain bone health during severe caloric restriction in growing female rats.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"38"},"PeriodicalIF":3.3,"publicationDate":"2025-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11811438/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143381694","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Eruptive Process in Children with Osteogenesis Imperfecta.","authors":"Clara Sandibel Garcete Delvalle, M Joaquín De Nova García, María Rosa Mourelle Martínez","doi":"10.1007/s00223-025-01345-1","DOIUrl":"10.1007/s00223-025-01345-1","url":null,"abstract":"<p><p>Osteogenesis imperfecta (OI) is a hereditary disorder characterized by bone fragility and skeletal abnormalities. The administration of bisphosphonates (BPs) in children with OI increases bone density. This antiresorptive inhibits osteoclast action, thus altering physiological processes, in which osteoclasts play important roles, such as the eruptive process. The aim of this investigation was to study the eruptive process (dental development of permanent dentition, resorption of temporary dentition, and alveolar eruption of the first permanent molar) in children with OI medicated with BPs and to compare the results with those of a control group. In total, 34 panoramic radiographs of children with OI [mean chronological age of 8.43 (± 1.77)] who were medicated with BPs for a period of one year or more were studied and 367 panoramic radiographs of healthy children [mean chronological age of 9.19 (± 1.62)] were used as controls. The Demirjian method was used to study the dental development of the seven permanent teeth in the third quadrant. Alveolar eruption of the first permanent molar was considered when perforation of the alveolar bone was produced. The Haavikko method was used to study the root resorption of the five primary teeth in the third quadrant, and software (PixelStick®) was used to measure the lengths of the mesial and distal roots of the primary molars. The cumulative dose of BPs was obtained by mathematically calculating the total dosage received (mg)/weight (kg) and multiplying the relative potency of the medication. The Mann‒Whitney U test was used for comparisons, and p < 0.05 indicated statistical significance. A delay of 0.95 points in dental development and delayed exfoliation of primary dentition between 1.31 and 1.66 years were described in the study group. A root resorption delay of 11.8% was described among the 5 primary teeth of 23.3% among the single-rooted teeth and of 5.6% among the two-rooted teeth in children with OI medicated with BFs (p < 0.05). Delayed alveolar eruption of the first permanent molar at 0.31 years of age was found in children with OI medicated with BFs. We detected delayed tooth development at one stage of maturation in the study group, which was clinically imperceptible. The dental age (≤ 0.55 years) was greater than the chronological age in both groups. We also reported delayed exfoliation of the primary dentition (from 1.31 to 1.66 years), delayed root resorption of the primary dentition (11.8%), and delayed (from 1 mm to 1.25 mm) root resorption of the primary molars in the study group. Although the degree of dental development of the first permanent molar was similar between the two groups, we found delayed (0.31 years) alveolar eruption in the study group and a greater delay (0.44 years) in children whose cumulative dose of bisphosphonates exceeded 2000.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"37"},"PeriodicalIF":3.3,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143363762","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Unusual Association of Partial Fanconi Syndrome and Tumor-Induced Osteomalacia Revealed by Multiple Vertebral Fractures.","authors":"Anne-Cécile Debrach, Matteo Coen, Sophie De Seigneux, Essia Saiji, Sana Boudabbous, Jean-Pierre Willi, Jacques Serratrice, Stéphane Genevay, Emmanuel Biver","doi":"10.1007/s00223-025-01344-2","DOIUrl":"10.1007/s00223-025-01344-2","url":null,"abstract":"<p><p>Tumor-induced osteomalacia (TIO) is a rare acquired paraneoplastic syndrome caused by a mesenchymal tumor secreting a phosphaturic hormone called FGF23. Patients present with bone pain, fragility fractures and muscle weakness. Biochemical results show hypophosphatemia, raised serum alkaline phosphatase and reduced calcitriol. We report the case of a 44-year-old man who presented to the Emergency Departement with acute low back pain revealing extensive subchondral fractures between D2 and L5. Investigations showed partial Fanconi syndrome; nevertheless, he had profound hypophosphatemia, low 1,25-OH vitamin D and raised FGF23 levels suggesting a diagnosis of tumor-induced osteomalacia. A subcutaneous lesion was identified in the left leg on a PET-CT initially performed to rule out malignancy in the context of Fanconi syndrome. Tumorectomy enabled complete resolution of the electrolyte disturbances within days of surgery. This case shows that TIO may present as partial Fanconi syndrome, highlighting the importance of testing other electrolytes in cases of hypophosphatemia and the need to look for TIO in cases of partial Fanconi with severe hypophosphatemia.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"36"},"PeriodicalIF":3.3,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11785680/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143063840","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Differences in Body Composition, Bone Density, and Tibial Microarchitecture in Division I Female Athletes Participating in Different Impact Loading Sports.","authors":"Kelly H Mroz, Adam J Sterczala, Nicole M Sekel, Mita Lovalekar, Pouneh K Fazeli, Jane A Cauley, Thomas J O'Leary, Julie P Greeves, Bradley C Nindl, Kristen J Koltun","doi":"10.1007/s00223-025-01346-0","DOIUrl":"https://doi.org/10.1007/s00223-025-01346-0","url":null,"abstract":"<p><p>Sport participation affects body composition and bone health, but the association between sport, body composition, and bone health in female athletes is complex. We compared areal bone mineral density (aBMD, DXA) and tibial volumetric bone mineral density (vBMD), geometry, microarchitecture, and estimated strength (HR-pQCT) in cross-country runners (n = 22), gymnasts (n = 23) and lacrosse players (n = 35), and investigated associations of total body lean mass (TBLM), team, and their interaction with tibial bone outcomes. Total body (TB), total hip (TH), femoral neck (FN), and lumbar spine (LS) aBMD were higher in gymnasts than runners (p < 0.001); FN and LS aBMD were higher in gymnasts than lacrosse players (p ≤ 0.045); and TB, TH, FN, and LS aBMD were higher in lacrosse players than runners (p ≤ 0.013). At the distal tibial metaphysis, total area (Tt.Ar) was higher in gymnasts than runners (p = 0.004); cortical area and thickness (Ct.Ar, Ct.Th) were higher in lacrosse players than runners (p ≤ 0.044); trabecular separation (Tb.Sp) was higher in runners than gymnasts (p = 0.031); and failure load was higher in both gymnasts and lacrosse players than runners (p ≤ 0.012). At the tibial diaphysis, Tt.Ar, Ct.Ar, cortical perimeter (Ct.Pm), and failure load were higher in gymnasts than runners (p ≤ 0.040). In multiple linear regression analyses, TBLM was significantly associated with metaphyseal failure load (ß = 0.30, p = 0.042), and diaphyseal Tt.Ar and Ct.Pm (ß = 6.17, p = 0.003; ß = 0.59, p = 0.010). Bone health can vary among different sport types and is associated with TBLM, which may be a modifiable factor to maintain or improve bone health.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"35"},"PeriodicalIF":3.3,"publicationDate":"2025-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143063689","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"18F-Sodium Fluoride PET/CT as a Tool to Assess Enthesopathies in X-Linked Hypophosphatemia.","authors":"Macarena Jimenez, Aaron J Sheppard, Rodrigo Jaimovich, Natalia Covarrubias, Diego Jordan, Juan Carlos Quintana, Oscar Contreras, Danisa Ivanovic Zuvic, Anette Madison, Babak Saboury, Michael T Collins, Pablo Florenzano","doi":"10.1007/s00223-025-01343-3","DOIUrl":"https://doi.org/10.1007/s00223-025-01343-3","url":null,"abstract":"<p><p>X-linked hypophosphatemia (XLH) is a rare metabolic disorder characterized by elevated FGF23 and chronic hypophosphatemia, leading to impaired skeletal mineralization and enthesopathies that are associated with pain, stiffness, and diminished quality of life. The natural history of enthesopathies in XLH remains poorly defined, partly due to absence of a sensitive quantitative tool for assessment and monitoring. This study investigates the utility of 18F-NaF PET/CT scans in characterizing enthesopathies in XLH subjects. In 19 adult XLH subjects, enthesopathy burden was assessed by quantifying calcified sites on CT and 18F-NaF PET uptake at 16 common tendon/ligament insertion locations. Parameters obtained were (1) number of enthesopathy sites, (2) characterization of each site as CT-positive (CT +) and/or PET-positive (PET +), (3) a semiquantitative score based on severity of affected enthesopathies (CT-score_global and PET-score_global). Biochemical and self-reported questionnaires results were correlated with 18F-NaF PET/CT parameters. 18F-NaF PET/CT detected at least one enthesopathy in all subjects, with 18F-NaF PET positivity often detected before CT (19.4% of all enthesopathies). Age negatively correlated with the number of PET + /CT- enthesopathies and positively with PET-/CT + enthesopathies. PET-score_global was positively associated with ALP. While PET-score_global showed no correlation with any applied survey, CT-score_global was associated with worse functionality and pain. These associations suggest a progression from an actively mineralizing lesion to a more established, inactive lesion. Overall, although 18F-NaF PET/CT is not yet indicated for routine clinical use, it is a promising research tool for evaluating enthesopathy burden in XLH, offering valuable insights into the disease's progression and potentially enabling early therapeutic assessment.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"34"},"PeriodicalIF":3.3,"publicationDate":"2025-01-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143037240","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Multifactorial Relationship Between Bone Tissue Water and Stiffness at the Proximal Femur.","authors":"William Querido, No'ad Shanas, Adaeze P Radway, Brandon C Jones, Mikayel Ispiryan, Huaqing Zhao, Michael W Hast, Chamith S Rajapakse, Nancy Pleshko","doi":"10.1007/s00223-024-01327-9","DOIUrl":"10.1007/s00223-024-01327-9","url":null,"abstract":"<p><p>Bone mechanical function is determined by multiple factors, some of which are still being elucidated. Here, we present a multivariate analysis of the role of bone tissue composition in the proximal femur stiffness of cadaver bones (n = 12, age 44-93). Stiffness was assessed by testing under loading conditions simulating a sideways fall onto the hip. Compositional properties of cortical and trabecular tissues were quantified in femoral neck cross sections by Fourier transform infrared (FTIR) spectroscopy and near infrared (NIR) spectroscopy. In addition, cross-sectional areas and cortical thickness and tissue mineral density (TMD) were measured at the femoral neck. Pearson correlation analysis showed a significant (p < 0.05) negative relationship between bone stiffness and cortical and trabecular water content, both total (r = -0.63) and tightly bound to matrix and mineral (r = -55). Additionally, significant (p < 0.05) positive correlations were found between stiffness and bone area, both total (r = 0.67) and trabecular (r = 0.58). However, linear regression using each of these properties to predict bone stiffness resulted in weak models (R² = 0.36-0.48). Interestingly, we found markedly stronger models (cross-validated R² = 0.80-0.92) by using partial least squares (PLS) regression to predict stiffness based on combinations of bone properties. The models with highest R² values were found when including bone water parameters as explanatory variables, both total and tightly bound, in cortical and trabecular. This study provides new insights by revealing a multifactorial relationship in which higher bone water content across different tissue compartments contributes to lower bone stiffness, highlighting bone water as a potential biomarker of bone quality and proximal femur mechanical function.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"33"},"PeriodicalIF":3.3,"publicationDate":"2025-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11759464/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143022162","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Diagnosis and Therapy of Osteoporosis in Gaucher Disease.","authors":"Gemma Marcucci, Maria Luisa Brandi","doi":"10.1007/s00223-024-01340-y","DOIUrl":"10.1007/s00223-024-01340-y","url":null,"abstract":"<p><p>Gaucher disease is a rare lysosomal storage disorder characterized by the accumulation of glucocerebroside lipids within multiple organs due to a deficiency of the lysosomal enzyme (acid β-glucosidase). It is an inherited autosomal recessive disease. The onset of symptoms can vary depending on disease type and severity, with milder forms presenting in adulthood. The main clinical manifestations include cytopenia, splenomegaly, hepatomegaly, and bone lesions. GD is characterized by several bone manifestations, such as osteopenia/osteoporosis, focal lytic or sclerotic lesions, osteonecrosis acute or chronic bone pain, Erlenmeyer flask deformity, and subchondral joint collapse with secondary degenerative arthritis. In 70-100% of patients affected by Gaucher disease type 1, clinical or radiographic evidence of bone disease occurs. Among bone complications, osteoporosis is very common, but its etiopathogenesis in GD is not completely clear. Results deriving from experimental studies support the hypothesis that there is an aberrant activity of both osteoclasts and osteoblasts due to several factors, resulting in impaired bone turnover. Bone complications represent the main cause of pain, disability, and reduced quality of life in these patients. Therefore, there is a need to enhance awareness among physicians on the skeletal manifestations throughout life of GD patients, in order to improve diagnosis and management of bone complications. In particular, this narrative review focuses on risk of bone fragility in GD, etiopathogenetic hypotheses, epidemiological data, diagnosis, monitoring, and treatment of osteoporosis in patients suffering from Gaucher disease, specifying the challenges not yet addressed.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"31"},"PeriodicalIF":3.3,"publicationDate":"2025-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11754349/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143000590","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}