2,835 results match your criteria: "Rickets Imaging"
Nephrocalcinosis tendency does not worsen under burosumab treatment for X-linked hypophosphatemic rickets: a multicenter pediatric study.
Front Pediatr
December 2024
The Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Background: X-linked hypophosphatemic rickets (XLH) is associated with uninhibited FGF23 activity, which leads to phosphaturia, hypophosphatemia and depressed active vitamin D (1,25OH2D) levels. Conventional treatment with phosphate supplements and vitamin D analogs may lead to hypercalciuria (HC), nephrocalcinosis (NC) and hyperparathyroidism. We investigated the effects of burosumab treatment, an anti-FGF23 monoclonal antibody recently approved for XLH, on these complications.
View Article and Find Full Text PDFOsteomalacia: A Challenging Diagnosis Adverse Event Associated with Intravenous Ferric Carboxymaltose-A Case Report.
Calcif Tissue Int
December 2024
Department of Rheumatology, Ramon y Cajal University Hospital, Ctra. de Colmenar Viejo Km. 9,100, 28034, Madrid, Spain.
Hypophosphatemia resulting from intravenous iron treatment has become an increasingly concerning syndrome in recent years. We report the case of a 66-year-old male patient with a medical history of ankylosing spondylitis (AS), Crohn's disease, and chronic iron deficiency. Following intravenous iron infusions of ferric carboxymaltose, the patient developed diffuse bone pain and multiple bone fractures.
View Article and Find Full Text PDFApproach to determining etiology of hypophosphatemia in a patient with coexisting phosphaturic mesenchymal tumor and fibrous dysplasia.
JBMR Plus
January 2025
Department of Endocrine Neoplasia and Hormonal Disorders, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, United States.
Dysregulated FGF23 production is a demonstrated cause of hypophosphatemia and osteomalacia. Diseases associated with these conditions include phosphaturic mesenchymal tumor (PMT) causing tumor induced osteomalacia, various forms of rickets, and fibrous dysplasia (FD). Coexistence of 2 conditions that can increase FGF23 concentrations is rare.
View Article and Find Full Text PDF18F-AlF-NOTA-octreotide PET/CT and 3D printing technology for precision diagnosis and treatment of phosphaturic mesenchymal tumors in patients with tumor-induced osteomalacia: two case reports.
Front Endocrinol (Lausanne)
December 2024
Department of Orthopedics and Trauma, Weifang People's Hospital, First Affiliated Hospital of Shandong Second Medical University, Weifang, China.
Article Synopsis
The care of the patient with X-linked hypophosphatemic rickets.
Eur J Paediatr Dent
December 2024
Department of Surgical, Medical, Molecular and Critical Area Pathology, Unit of Pediatric Dentistry, University of Pisa, Pisa, Italy.
Article Synopsis
- - The study investigates dental issues in patients with X-linked hypophosphatemic rickets (XLH), focusing on abscess occurrence and the characteristics of pulp chambers.
- - Researchers analyzed 24 XLH patients and 23 healthy controls, using imaging and histological techniques to compare pulp chamber features and dental health.
- - Results showed that most XLH patients have enlarged and altered pulp chambers, increasing their risk for abscesses, highlighting the need for early, multidisciplinary dental care for these patients.
A Rare Case of Neuronal Ceroid Lipofuscinosis-Type 1 (NCL-1) with Vitamin D-Dependent Rickets-Type 1 (VDDR-1), Complex 1 Mitochondrial Deficiency, and Mixed Variant-Checkerboard and Phylloid Type of Pigmentary Mosaicism.
J Pediatr Genet
December 2024
Centre for Human Genetics, Bengaluru, Karnataka, India.
Article Synopsis
A Rare Case of Tumor-Induced Osteomalacia Due to Mesenchymal Tumor at Foramen Magnum Diagnosed Preoperatively on 68 Ga DOTATATE PET/CT.
Clin Nucl Med
January 2025
From the Department of Endocrinology, Seth G S Medical College.
Article Synopsis
A Novel Compound Nonsense Variant in Causes an Atypical Form of Vitamin D-Dependent Rickets Type 1A: A Case Report of Two Siblings in a Mexican Family.
Diseases
October 2024
Laboratory of Molecular Biology, Section of Investigation, Department of Genetic, Hospital General de México "Dr. Eduardo Liceaga", México City 06720, Mexico.
Article Synopsis
- Vitamin D-dependent rickets type 1A (VDDR1A) is a rare genetic disorder characterized by symptoms like growth failure, rickets, and hypocalcemia, caused by mutations in a specific gene.
- A study focused on two Mexican siblings with unusual symptoms including cafe au lait spots and grayish sclera, alongside typical VDDR1A features, leading to genetic testing that identified both a recurrent variant and a novel nonsense variant in the affected gene.
- The findings highlight the first documented case of atypical VDDR1A in this family and suggest that certain genetic mutations may influence the severity of the condition, with the younger brother showing a better response to calcitriol treatment.
Progressive bone pain caused by a phosphaturic mesenchymal tumor in the left femur: a case report and literature review.
J Int Med Res
October 2024
Liuying Zhou, Department of Operating Room, Lishui Municipal Central Hospital, Lishui, Zhejiang, P. R. China.
Article Synopsis
- Phosphaturic mesenchymal tumors (PMTs) are rare tumors that can cause tumor-induced osteomalacia (TIO), affecting soft tissue and bone.
- These tumors may be asymptomatic, often going unnoticed until they grow large enough to cause pain or discomfort.
- The report discusses a case of a patient experiencing progressive bone pain due to a PMT located in the left femur.
Carotid intima-media thickness, fibroblast growth factor 23, and mineral bone disorder in children with chronic kidney disease.
BMC Nephrol
October 2024
Department of Child Health, Faculty of Medicine Universitas Indonesia - Cipto Mangunkusumo Hospital, Jakarta, Indonesia.
Article Synopsis
Artificial Intelligence Applications for Imaging Metabolic Bone Diseases.
Semin Musculoskelet Radiol
October 2024
Dipartimento di Scienze Mediche e Chirurgiche, Bologna University, Bologna, Italy.
Article Synopsis
- AI is revolutionizing medical imaging for metabolic bone diseases (MBDs) like osteoporosis and rare conditions, enhancing diagnosis and management.
- The article analyzes various AI techniques, recent advancements, and their clinical applications, while addressing ethical issues and future developments.
- By combining AI with existing imaging methods, there is potential for improved diagnostic accuracy and patient outcomes in the treatment of MBDs.
Lower limb maltorsion and acetabular deformity in children and adolescents with X-linked hypophosphatemia.
Front Endocrinol (Lausanne)
October 2024
Department of Pediatric Orthopedics, Orthopedic Hospital Speising, Vienna, Austria.
Article Synopsis
- X-linked hypophosphatemia (XLH) is a rare genetic disorder leading to skeletal issues, particularly affecting a patient's gait due to lower limb deformities, but standardized data on these deformities are lacking.
- A study assessed lower limb maltorsion in children and adolescents with XLH, using advanced imaging techniques like MRI and CT to measure femoral and tibial torsion, acetabular anteversion, and hip coverage.
- Results indicated that many patients exhibited abnormal femoral and tibial torsion; notably, 47% had decreased femoral torsion, and 64% presented reduced external tibial torsion, raising concerns about the impact of these deformities on walking
Multidisciplinary team approach for CKD-associated osteoporosis.
Nephrol Dial Transplant
December 2024
Division of Renal Medicine, Department of Clinical Science, Intervention and Technology, Karolinska Institutet, Karolinska Universitetssjukhuset, Stockholm, Sweden.
Article Synopsis
- * The European Renal Osteodystrophy (EUROD) initiative emphasizes the importance of a multidisciplinary team (MDT) approach, bringing together specialists to tackle complex cases of CKD-associated osteoporosis.
- * The establishment of kidney-bone MDTs is recommended to enhance diagnostics and personalized treatment plans for improve patient management in CKD-MBD across different levels of healthcare.
Nephrocalcinosis and kidney function in children and adults with X-linked hypophosphatemia: baseline results from a large longitudinal study.
J Bone Miner Res
September 2024
Indiana University School of Medicine, Indianapolis, IN 46202, United States.
Article Synopsis
- In patients with X-linked hypophosphatemia (XLH), traditional treatments can lead to nephrocalcinosis, but the connections between XLH, its treatment, and kidney function are still unclear.
- A study analyzed kidney health in 196 children and 318 adults with XLH, with findings showing a significant prevalence of nephrocalcinosis, especially in children, and its association with reduced kidney function.
- Results indicated that nephrocalcinosis was common in both age groups, with children showing more symptoms related to kidney function compared to adults, highlighting the need for deeper understanding and monitoring of kidney health in XLH patients.*
FGF23-secreting sinonasal tumour presenting with acute subdural haemorrhage and tumour-induced osteomalacia.
BMJ Case Rep
August 2024
Rheumatology Department, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Article Synopsis
- - A woman in her 50s experienced a severe headache, collapsed, and was diagnosed with an acute subdural hemorrhage that needed surgery; she had a history of bone pain and autoimmune issues.
- - Tests revealed a tumor in her right ethmoid sinus, which was affecting her phosphate levels and causing her bone problems, linked to elevated levels of FGF23.
- - After phosphate replacement and surgery to remove the tumor, her health improved significantly, with normal levels of phosphate and FGF23, confirming the diagnosis of a phosphaturic mesenchymal tumor that caused osteomalacia.
Increased blood 1,25 dihydroxyvitamin D levels in infants with Metabolic Bone Disease of Infancy in contested cases of child abuse.
J Orthop
December 2024
Private Practice Radiology, Peoria, Illinois, USA.
Article Synopsis
- - Metabolic Bone Disease of Infancy (MBDI) is a condition that leads to fragile bones and multiple unexplained fractures, often mistaken for child abuse, with diagnosis reliant on radiographic evidence of healing rickets and specific blood tests.
- - A study analyzing MBDI cases from 2015 to 2021 found that 29% of infants tested had elevated levels of blood 1,25-dihydroxyvitamin D (1,25-DiOHVD), which is associated with increased bone fragility; the average age for presenting with fractures was 11 weeks.
- - The findings suggest that elevated 1,25-DiOHVD levels in infants with MBDI indicate significant bone frag
Metabolic Bone Disease.
Prim Care
September 2024
Department of Family Medicine, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA; Department of Orthopedic Surgery, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA. Electronic address:
Article Synopsis
Debilitating Musculoskeletal Disease in Two Free-Ranging Juvenile American Black Bears ().
Animals (Basel)
July 2024
Department of Small Animal Clinical Sciences, University of Tennessee College of Veterinary Medicine, Knoxville, TN 37996, USA.
Article Synopsis
- In 2023, two juvenile American black bears with severe musculoskeletal diseases were euthanized in Tennessee, marking a shift from previously reported traumatic causes of such conditions.
- The first case involved an 11-month-old male with disproportionate dwarfism and joint laxity, suggesting possible chondrodysplasia or rickets, while the second case was a 14-month-old emaciated male showing osteoporosis due to malnutrition.
- This report aims to raise awareness among wildlife agencies about these non-trauma-related musculoskeletal diseases, encouraging monitoring and evaluation to enhance understanding of their underlying causes.
Evaluation of dental manifestations in X-linked hypophosphatemia using orthopantomography.
PLoS One
July 2024
Division of Oral Infection and Disease Control, Department of Pediatric Dentistry, Osaka Graduate School of Dentistry, Suita, Osaka, Japan.
Article Synopsis
- X-linked hypophosphatemia (XLH) is a genetic condition leading to rickets, characterized by mutations in the PHEX gene, which results in excessive FGF23 production and dental issues like spontaneous abscesses due to hypomineralization.
- This study developed a new quantitative method using orthopantomography to assess dentin dysplasia by measuring the pulp cavity area in teeth from XLH patients compared to healthy individuals.
- Results showed that XLH patients had larger pulp chambers, and this method allows for a better evaluation of dental complications associated with XLH, aiding in early diagnosis and treatment.
[Retrospective study on the diagnosis, treatment, and follow-up of 85 cases of hypophosphatemic rickets in children].
Zhongguo Dang Dai Er Ke Za Zhi
July 2024
Children's Hospital of Nanjing Medical University, Nanjing 210000, China com.
Article Synopsis
- The study focused on hypophosphatemic rickets (HR) in children, examining diagnosis, treatment, and complications, while evaluating effectiveness and height growth patterns over five years.
- A total of 85 children were analyzed, with findings showing reduced blood phosphate levels and lower limb deformities, along with significant genetic mutation rates.
- Post-treatment, notable improvements included reduced alkaline phosphatase levels and height growth, although complications such as nephrocalcinosis and hyperparathyroidism were prevalent, particularly in the initial year.
Hypophosphatemic rickets and short stature.
J Bone Miner Res
August 2024
Department of Pediatrics, Endocrinology, Vanderbilt University Medical Center, Nashville, TN 37232, United States.
Article Synopsis
- An 18-month-old boy was evaluated for motor delay and poor growth, with radiographs indicating irregularities and signs of skeletal dysplasia and craniosynostosis.
- Tests revealed hypophosphatemic rickets due to renal phosphate wasting, confirmed by a genetic mutation linked to autosomal dominant hypophosphatemic rickets (ADHR).
- Treatment with calcitriol and phosphate led to improved biochemical markers; after addressing iron deficiency, the child's growth and development markedly improved over three years, including normalization of x-ray findings.
Unusual presentation of Sjogren's syndrome.
BMJ Case Rep
July 2024
Endocrinology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Article Synopsis
- * A case is reported where a man in his 30s confused with having stress fractures actually suffered from pseudofractures due to osteomalacia resulting from RTA linked to Sjogren's syndrome.
- * After diagnosing RTA, the patient was treated with sodium bicarbonate, resulting in improvements in symptoms and health, stressing the importance of considering RTA in patients with osteomalacia but normal calcium and vitamin D levels.
Evaluation of bone density and microarchitecture in adult patients with X-linked hypophosphatemic rickets: A pilot longitudinal study.
Bone
October 2024
BIOSCAR UMRS 1132, INSERM, Université Paris Cité, F-75475 Paris, France; Assistance Publique des Hôpitaux de Paris, Lariboisière Hospital, DMU Locomotion, Department of Rheumatology, F-75475 Paris, France; National Reference Center For Rare Bone Diseases, Lariboisière Hospital, APHP.Nord, Filière OSCAR, F-75475 Paris, France.
Article Synopsis
- - X-linked Hypophosphatemia (XLH) is a common inherited rickets condition, but its effects on bone structure and properties are not well understood; this study analyzed bone characteristics in adults with XLH compared to healthy controls.
- - Findings showed that patients had higher areal bone mineral density (aBMD) and trabecular bone scores at the lumbar spine, but lower volumetric BMD and trabecular measures at the distal radius, indicating mixed bone quality.
- - Over time, a follow-up revealed declines in total and cortical volumetric BMD at the tibia, suggesting that while XLH patients have some higher densities initially, microarchitectural issues worsen with age.
[Effect and safety of Burosumab in the treatment of 4 children with X-linked hypophosphatemia].
Zhonghua Er Ke Za Zhi
July 2024
Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China.
Article Synopsis
- - The study aimed to assess the safety and effectiveness of Burosumab treatment in four pediatric patients with X-linked hypophosphatemia (XLH) over a follow-up period until December 2023, following unsuccessful previous treatments.
- - Four children aged between 2.1 to 6.7 years were treated with Burosumab (0.8 mg/kg every two weeks), showing significant improvements in fasting serum phosphorus and tubular maximum reabsorption of phosphate/glomerular filtration rate (TmP/GFR) levels after treatment.
- - While some indicators improved, including a decrease in alkaline phosphatase levels, only one patient reached normal TmP/GFR values, highlighting that not all patients achieved ideal outcomes
Healthcare Resource Use Associated With Tumor-Induced Osteomalacia: A Literature Review.
J Clin Endocrinol Metab
December 2024
Departments of Pediatrics (Endocrinology) and Orthopaedics and Rehabilitation, Yale School of Medicine, New Haven, CT 06520-8064, USA.
Article Synopsis
- Tumor-induced osteomalacia (TIO) is a rare syndrome caused by tumors that secrete FGF23, with initial symptoms often misdiagnosed, leading to severe patient disabilities due to delayed treatment.
- A review encompassed 414 publications, mainly case reports, involving 621 patients, revealing an average delay of 4.6 years for diagnosis and highlighting the significant healthcare resources needed for imaging and treatment.
- The study concluded that enhancing diagnostic processes for TIO could improve patient outcomes and decrease the overall healthcare burden associated with this condition.*