Calcified Tissue International最新文献

{"title":"X-Linked Hypophosphatemia: Role of Fibroblast Growth Factor 23 on Human Skeletal Muscle-Derived Cells.","authors":"I Falsetti, G Palmini, S Donati, C Aurilia, R Zonefrati, L Di Filippo, A Giustina, S Giannini, G P Arcidiacono, T Iantomasi, D Lazzerini, P Joos-Vandewalle, C Lee, M L Brandi","doi":"10.1007/s00223-025-01415-4","DOIUrl":"10.1007/s00223-025-01415-4","url":null,"abstract":"<p><p>X-linked hypophosphatemia (XLH) is a rare and progressive disease, due to inactivating mutations in the phosphate-regulating endopeptidase homolog X-linked (PHEX) gene. These pathogenic variants result in elevated circulating levels of fibroblast growth factor 23 (FGF23), responsible for the main clinical manifestations of XLH, such as hypophosphatemia, skeletal deformities, and mineralization defects. However, XLH also involves muscular disorders (muscle weakness, pain, reduced muscle density, peak strength, and power). Although XLH is characterized by muscle disorders, to date there are few studies on the action of FGF23 on muscle. Therefore, this study aims to evaluate the effects of FGF23 in an in vitro model of skeletal muscle satellite cells derived from human biopsies (hSMCs). After isolating and characterizing three lines of hSMCs from three volunteers, we evaluated the effect of FGF23 on the proliferative and myogenic differentiation process. We observed that none of the three concentrations of FGF23 tested (1, 10, 100 ng/mL) affected the proliferative process after 48 h of treatment. On the contrary, after 24 and 48 h of treatment, FGF23 resulted in a significant reduction in the gene expression of the myogenic regulatory factors family (Myf-5, MyoD-1, Myogenin, and MRF4), irisin, myosin heavy chain, myostatin, desmin, FGF23 receptors (FGRF1-4) and KLOTHO coreceptor. We, therefore, hypothesized that FGF23 is directly involved in the muscular disorders that characterize XLH, and clarifying these effects at the molecular and cellular level is essential to elucidate XLH pathogenesis and, consequently, its management.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"120"},"PeriodicalIF":3.2,"publicationDate":"2025-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12420773/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145029096","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":"Clinical Characteristics and Management of Rare Metabolic Bone Diseases: An Audit of the Rare Metabolic Bone Disease Registry of India.","authors":"Mani Sangar, Liza Das, Simran Kaur, Vandana Dhiman, Sanjay Kumar Bhadada","doi":"10.1007/s00223-025-01423-4","DOIUrl":"https://doi.org/10.1007/s00223-025-01423-4","url":null,"abstract":"<p><p>Rare diseases, defined by the 2002 Rare Disease Act, affect fewer than 5 in 10,000 individuals. Rare metabolic bone diseases (MBDs), such as osteogenesis imperfecta, hypophosphatasia, osteopetrosis, and other unclassified disorders, can disrupt bone development and remodeling, posing diagnostic and management challenges. This study analyzed data from the rarembd.in registry (2010-2024), a 15-year database documenting only rare MBDs. Clinical presentation and demographic data of patients with rare MBDs were collated. Common MBDs (osteoporosis, primary hyperparathyroidism) were excluded. Genetic testing was performed in a subset of patients. There was a total of 218 patients with an almost equal gender distribution (male-to-female ratio of 1:1.07) and a mean age of 29.1 ± 18.9 years. The registry identified 29 rare MBDs with three main disease categories: demineralization disorders (50.4%), disorders of bone matrix and cartilage formation (32.5%), and sclerotic disorders (13.7%); with a smaller proportion categorized as unclassified bone disorders (2.7%). Rickets/osteomalacia (27.1%) was the most common, followed by osteogenesis imperfecta (23.4%) and fibrous dysplasia/McCune-Albright syndrome (18.8%). Fractures affected 57.7% of patients, with 24.5% experiencing multiple fractures, while 31.1% exhibited skeletal deformities. Mutation analysis in our registry identified pathogenic variants in the SOST, TGFβ1, SLC34A3, ALPL, and VCP genes, confirming the genetic basis of sclerosteosis, Camurati-Engelmann disease, hypophosphatemic rickets, hypophosphatasia, and IBMPFD, respectively. Different management strategies were used that included teriparatide, bisphosphonates (zoledronate or alendronate) with total contact casting, intralesional zoledronate, denosumab, calcium, active vitamin D, and recombinant human growth hormone. Total parathyroidectomy was performed in specific cases. The registry classified RMBDs into four categories, with demineralization disorders being the most common, followed by bone matrix/cartilage formation disorders, sclerotic diseases, and unclassified cases. There were 29 RMBDs, and rickets/osteomalacia was the most prevalent subtype, tumor-induced osteomalacia followed by familial hypophosphatemic osteomalacia. Among the unclassified bone disorders, fragility fractures emerged as the most common presentation.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"119"},"PeriodicalIF":3.2,"publicationDate":"2025-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145008141","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":"Treatment with the Bifidobacterium longum Strain DSM 32947 Increases Bone Mineral Density in Female Mice.","authors":"Claes Ohlsson, Daniel Hägg, Karin Horkeby, Karin H Nilsson, Lina Lawenius, Jianyao Wu, Antti Koskela, Juha Tuukkanen, Louise Grahnemo, Ludwig Ermann Lundberg, Stefan Roos, Klara Sjögren","doi":"10.1007/s00223-025-01429-y","DOIUrl":"10.1007/s00223-025-01429-y","url":null,"abstract":"<p><p>Previous studies have shown that the gut microbiota regulates bone mass and that certain strains of Bifidobacterium longum prevent bone loss in ovariectomized (ovx) mice. A novel strain of Bifidobacterium longum (B. longum subsp. longum DSM 32947; BL) with a broad carbohydrate degradation capacity and the ability to stimulate certain lactobacilli was recently identified. In the present study, we tested if BL improves bone health in gonadal intact and ovx female mice.Ten-week-old C57BL/6 J female mice were subjected to ovx or sham surgery. One week after surgery, mice were treated with arabinoxylan oligosaccharides (AXOS; veh) or a combination of AXOS and BL for five weeks. BL treatment increased BL abundance in the cecal content.Dual-energy X-ray absorptiometry showed that BL increased total body bone mineral density in both sham and ovx mice compared with veh-treated mice (p < 0.01). Computed tomography analyses showed that BL increased trabecular bone volume fraction of the L4 vertebra, mainly due to increased trabecular thickness in both sham and ovx mice (p < 0.05). In addition, BL increased the mid-diaphyseal cortical bone area of the femur (p < 0.05) and improved its strength (p = 0.05).In conclusion, treatment with BL increases parameters for bone health in female mice.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"117"},"PeriodicalIF":3.2,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12405022/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144943915","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":"Bone Density, Microarchitecture, and Geometry Assessment in Patients with Pachydermoperiostosis Using Second-Generation High-Resolution Peripheral Quantitative Computed Tomography: A Case-Control Study.","authors":"Durairaj Arjunan, Jayaditya Ghosh, Sayka Barry, Md Sadam Hussain, Ashutosh Rai, Rimesh Pal, Sanjay K Bhadada, Márta Korbonits, Pinaki Dutta","doi":"10.1007/s00223-025-01427-0","DOIUrl":"https://doi.org/10.1007/s00223-025-01427-0","url":null,"abstract":"<p><p>Pachydermoperiostosis (PDP) is a rare genetic disorder manifesting with periostosis, clubbing, and thickened skin. The impact of PDP on bone density and microarchitecture is underexplored despite the potential derangement in bone health due to systemic inflammation. This cross-sectional case-control study was conducted in a tertiary care center in north India from July 2022 to July 2023. We compared treatment naïve PDP patients (n = 8) with age and BMI-matched apparently healthy controls. All participants underwent clinical examination and estimation of biochemical parameters including calcium, phosphorus, alkaline phosphatase, 25(OH)D, and iPTH. Bone turnover markers C-terminal telopeptide of type I collagen (CTX) and procollagen type I N-propeptide (P1NP) were also assessed. All patients underwent areal and volumetric bone density measurements using dual-energy X-ray absorptiometry (DXA) and high-resolution peripheral quantitative computed tomography (HR-pQCT). HR-pQCT analysis revealed diminished cortical volumetric bone mineral density and altered microarchitecture in PDP patients at the radius and tibia, characterized by increased cortical porosity. Bone geometry assessment demonstrated increased cross-sectional bone area both in the cortical and trabecular compartments. Finite element analysis (FEA) indicated a substantial reduction in failure load, cortical and trabecular von Mises stress (VMS) at the tibia and stiffness at the radius in PDP patients compared to controls. PDP patients had similar biochemical and bone turnover parameters to controls. Individuals with PDP show reduced cortical vBMD with disrupted bone microarchitecture. These changes may reflect PGE2-mediated inflammation and bone resorption, suggesting increased fracture risk and the need for ongoing monitoring.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"116"},"PeriodicalIF":3.2,"publicationDate":"2025-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144943917","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":"Early Postmenopausal Fragility Fractures and Elevated IgE: Two Cases Suggesting Hyper-IgE Syndrome and a Novel Adverse Reaction to Romosozumab.","authors":"Lucy Collins, Peter R Ebeling","doi":"10.1007/s00223-025-01428-z","DOIUrl":"https://doi.org/10.1007/s00223-025-01428-z","url":null,"abstract":"<p><p>Severe, treatment-refractory or early-onset osteoporosis should prompt evaluation for secondary causes. Hyper-IgE syndrome (HIES) is a rare primary immunodeficiency disorder characterised by markedly elevated serum IgE, recurrent infections and skeletal anomalies, including osteoporosis and increased fracture burden. We present two cases of severe osteoporosis in early postmenopausal women. Both women exhibited markedly elevated IgE levels, raising the possibility of underlying HIES. Case 1, despite anabolic and anti-resorptive treatment, experienced multiple fragility fractures, with fracture burden out of keeping with bone mineral density. Case 2 did not respond to bisphosphonate therapy and developed a severe erythematous skin reaction following romosozumab therapy. Both cases highlight the importance of evaluating for secondary causes of osteoporosis. The novel reaction to romosozumab in Case 2 raises questions about its use in patients with immune dysregulation.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"115"},"PeriodicalIF":3.2,"publicationDate":"2025-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12398431/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144943930","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":"Multiscale Analysis Reveals Altered Characteristics in Femur and Mandible of Mice on a High Phosphate Diet.","authors":"Kristin Nguyen, Minji Kim, Andrew J Cheline, Peter Tsatalis, Yasaman Samanian, Olivia Jackson, Daniel A Branch, Hannah F Sanders, Farah A Al-Omari, Young C Jang, Beth S Lee, Kedryn K Baskin, Do-Gyoon Kim","doi":"10.1007/s00223-025-01425-2","DOIUrl":"https://doi.org/10.1007/s00223-025-01425-2","url":null,"abstract":"<p><p>Excessive phosphate used as flavor enhancers and preservatives in processed foods can exacerbate cardiovascular and kidney diseases. In clinical and pre-clinical studies, chronic (over 52 weeks) high-phosphate diet (HPD) negatively affects bone health. We previously demonstrated that 12-week-HPD decreases exercise capacity and skeletal muscle metabolism in adult male mice; however, alteration of bone characteristics associated with HPD independent of disease complications is not well-characterized. Thus, we determined the effects of shorter-term-HPD on characteristics of mouse femurs and mandibles. Adult male mice were fed a normal phosphate diet (NPD) or HPD for 18 weeks, serum markers of mineral metabolism and bone formation and resorption were quantified in femurs, and histological analysis was performed on tibias. Volumetric, mineral density, and morphology parameters of femurs and mandibles were determined using micro-computed tomography, and dynamic mechanical analysis and fracture testing of the femur were conducted. Our studies revealed that 18-week-HPD significantly reduced bone quality (tissue mineral density (TMD) and cortical thickness) without changing bone quantity (total mineral content and volume) of both femurs and mandibles, and femur mechanical properties were aggravated increasing the risk of fracture. Serum markers of osteoclastic resorption and osteoblastic formation were increased with HPD, indicating active osteoclastic bone resorption and osteoblastic new bone formation. These findings provide detailed information on how excessive dietary phosphate substantially alters characteristics of bone, resulting in bone weakening.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"114"},"PeriodicalIF":3.2,"publicationDate":"2025-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12380639/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144943979","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":"Evaluation of Low Alkaline Phosphatase Levels in Clinical Practice: Implications for Diagnosing Hypophosphatasia.","authors":"Gonul Buyukyilmaz, Serkan Bilge Koca, Refika Gören, Andac Uzdogan, Keziban Toksoy Adıguzel, Aylin Kılınç Uğurlu, Gonul Yardimci, Pınar Kocaay, Derya Tepe, Mehmet Boyraz, Esra Kilic, Fatih Gürbüz","doi":"10.1007/s00223-025-01424-3","DOIUrl":"10.1007/s00223-025-01424-3","url":null,"abstract":"<p><p>Persistent low serum alkaline phosphatase (ALP) levels are crucial in identifying genetic disorders such as hypophosphatasia (HPP). This study investigates the causes of low ALP levels in children, aiming to evaluate the demographic and clinical characteristics of those diagnosed with HPP.We evaluated 2243 children and adolescents, ranging from 0 to 19 years old between September 2019 and July 2024, who exhibited at least two ALP levels below the age- and gender-specific lower limit.In the patient group, 95.4% (2140 patients) exhibited transient low ALP levels, while 4.6% (103 patients) showed persistently low levels. In the persistent group, eleven additional medical conditions were identified, excluding HPP, with calorie depletion (anorexia, malnutrition) being the most common cause. The study identified 16 HPP patients (10 females, 6 males) with high phenotypic variability even within the same variants, comprising 0.71% of the whole group. Genetic testing identified 13 pathogenic/likely pathogenic ALPL gene variants (10 heterozygous, 3 homozygous), two of which were novel. Among HPP patients, 56.2% presented with HPP-related symptoms, most commonly short stature. We found a significant negative correlation between total ALP and serum pyridoxal phosphate (PLP) levels (Rho = - 0.55, p = 0.039), but no correlation with urine phosphoethanolamine.Persistently low ALP levels are a vital clinical indicator for a wide range of disorders, especially HPP. This study expands the phenotypic and genotypic profiles of HPP while improving our understanding of the disease in children. Increasing disease awareness, particularly for milder forms, is essential to avoid delayed diagnosis.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"111"},"PeriodicalIF":3.2,"publicationDate":"2025-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144871644","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 Impact of Sedentary Behavior and Physical Activity on Bone Health: A Narrative Review from the Rehabilitation Working Group of the International Osteoporosis Foundation.","authors":"Olivier Bruyère, David Scott, Alexandra Papaioannou, Bjoern Buehring, Bruno Muzzi Camargos, Roland Chapurlat, Thierry Chevalley, Elaine M Dennison, Jean-François Kaux, Nancy E Lane, Osvaldo Daniel Messina, Rene Rizzoli, Jorge Morales Torres, Julien Paccou, Jean-Yves Reginster, Sansin Tuzun, Robert D Blank, Stuart Silverman, Daniel Pinto","doi":"10.1007/s00223-025-01421-6","DOIUrl":"10.1007/s00223-025-01421-6","url":null,"abstract":"<p><p>Physical activity (PA) and sedentary behavior (SB) are two key lifestyle factors with profound implications for bone health across the lifespan. While PA is recognized for its positive effects on bone mineral density (BMD) and fracture prevention, emerging evidence highlights the detrimental consequences of prolonged sedentary time, independent of PA levels. This review synthesizes current knowledge on the impact of PA and SB on bone health outcomes, focusing on BMD and fracture risk in children, adolescents, adults, and older populations. A selection of epidemiological studies, systematic reviews, and meta-analyses was analyzed to explore the associations between movement behaviors and bone health indicators across different life stages. Particular attention was given to studies objectively measuring SB and PA and to the substitution effects of sedentary time with light or moderate-to-vigorous PA. In children and adolescents, higher levels of SB are associated with lower BMD, particularly at weight-bearing sites, while participation in weight-bearing and impact-loading PA positively influences bone mass accrual. In adults and older individuals, regular PA, including moderate-to-vigorous intensity weight-bearing PA and resistance training activities, is consistently linked to greater BMD and reduced fracture risk. Conversely, high sedentary time is associated with lower BMD and increased fracture incidence, particularly among frail or pre-frail individuals. Importantly, replacing sedentary time with even light-intensity PA yields measurable benefits for bone health, particularly among older adults and postmenopausal women, and may contribute to a reduced risk of fractures, although evidence remains limited. Promoting PA while minimizing SB should be central to clinical practice and public health policies aimed at maximizing and preserving skeletal health and preventing osteoporotic fractures, across the lifespan. Early intervention, continuous promotion across life stages, and adherence to WHO guidelines offer an effective, evidence-based framework for lifelong bone health maintenance.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"109"},"PeriodicalIF":3.2,"publicationDate":"2025-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144854705","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":"Clinical, Biochemical and Radiological Features of LRP5 Gene Variants in Children.","authors":"Graziamaria Ubertini, Danilo Fintini, Francesco d'Aniello, Flavia Urbano, Mariangela Chiarito, Alessia Angelelli, Natascia Di Iorgi, Maria Felicia Faienza","doi":"10.1007/s00223-025-01412-7","DOIUrl":"https://doi.org/10.1007/s00223-025-01412-7","url":null,"abstract":"<p><p>Alterations in the low-density lipoprotein receptor-related protein 5 (LRP5) gene have been associated with primary osteoporosis, leading to recurrent low-trauma fractures. Heterozygous carriers typically show a milder phenotype, with reduced bone mass starting in early childhood. In this paper, we described the clinical features and therapeutic outcomes of a cohort of 7 children (5 males) harboring different variants in the LPR5 gene. Eight heterozygous variants of the LRP5 gene were identified (6 missense, 2 nonsense), two of which were likely pathogenic. One male patient was compound heterozygous, carrying two different variants, including p.(Arg570Gln), previously reported as pathogenic in homozygous form, and exhibited a more severe phenotype consistent with Osteoporosis-Pseudoglioma Syndrome, including vitreoretinal abnormalities. At initial presentation, most patients had a history of low-trauma long bone fractures, or spontaneous vertebral fractures, and bone/joint pain. Five of them received bisphosphonate therapy and one patient also received denosumab. No new fractures occurred during follow-up (9 months-4 years). Bone mineral density (BMD) increased in all patients (3-103%, mean: 55%), and partial vertebral reshaping was described. No adverse effects were reported. This pediatric case series highlights the phenotypic variability of LRP5 gene variants, and underscores the efficacy of bisphosphonate therapy in improving BMD and reducing fracture risk. However, while bisphosphonates remain the standard of care, further research is needed on precision therapies that target Wnt signaling and other pathways affected by LRP5 gene alterations.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"108"},"PeriodicalIF":3.2,"publicationDate":"2025-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144820670","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":"Consensus-Based Recommendations for the Diagnosis, Treatment, and Monitoring of Hypoparathyroidism: Insights from the DACH Region.","authors":"Elena Tsourdi, Karin Amrein, Christian Meier, Markus Ketteler, Michael C Kreissl, Annie Mathew, Tobias Vogelmann, Tino Schubert, Heide Siggelkow","doi":"10.1007/s00223-025-01414-5","DOIUrl":"10.1007/s00223-025-01414-5","url":null,"abstract":"<p><p>Hypoparathyroidism (HypoPT) is a rare endocrine disorder characterized by low parathyroid hormone (PTH) levels, hypocalcemia, hyperphosphatemia, reduced active vitamin D (1,25-OH2 vitamin D), and hypercalciuria. Due to its rarity, non-specialized physicians often lack experience managing HypoPT. To address this, expert consensus statements were developed for the DACH region (Germany, Austria, Switzerland), considering regional differences and high HypoPT incidence. These statements aim to enhance adherence to guideline recommendations and improve non-specialist knowledge. From December 2023 to April 2024, three rounds of a Delphi consensus survey were conducted with seven DACH-region clinical experts. Consensus was defined as agreement among at least 6 of 7 participants (85%). Experts agreed surgery accounts for 90% of chronic HypoPT cases. Common symptoms include paresthesia, muscle cramps, and fatigue. Albumin-adjusted serum calcium should be measured 12-24 h post-surgically, within 2 weeks, and every 3-6 months thereafter. Key treatment goals are maintaining albumin-adjusted serum calcium in the lower normal range, symptom control, and quality of life. Long-term objectives include avoiding hypo- and hypercalcemia phases and disease-related complications. Failure of calcium and active vitamin D therapy is defined by persistent symptoms, hospitalization, laboratory values outside of the normal range, or medication intolerance. Experts emphasized using HypoPT-specific, validated quality-of-life questionnaires. This consensus provides practical guidance for non-specialists in diagnosing, treating, and monitoring HypoPT, improving care in German-speaking regions.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"107"},"PeriodicalIF":3.2,"publicationDate":"2025-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12343711/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144820671","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}