A 32-year-old lady of Asian descent presented with pain and severe stiffness of the back and hips progressively worsening over several years. She was diabetic but had no past medical history of rickets or renal disease. On examination she was of short stature with marked thoracic kyphosis and flattening of the lumbar spine. Spinal movements were globally restricted and the hips demonstrated a fixed flexion deformity. Her initial diagnosis had been ankylosing spondylitis until she had a MRI scan. Plain radiographs and further MRI of the hips were also performed. Subsequent laboratory tests revealed she was vitamin D deficient, normocalcemic with raised parathyroid hormone (PTH) and alkaline phosphatase.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.5334/jbr-btr.797 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
18F-Sodium Fluoride PET/CT as a Tool to Assess Enthesopathies in X-Linked Hypophosphatemia.
Calcif Tissue Int
January 2025
Endocrinology Department, School of Medicine, Pontificia Universidad Católica de Chile, Av. Diagonal Paraguay 262, Cuarto Piso, Santiago, Chile.
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.
View Article and Find Full Text PDFCase report: Prolonged and severe hungry bone syndrome after parathyroidectomy in X-linked hypophosphatemia.
Front Endocrinol (Lausanne)
January 2025
Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
Tertiary hyperparathyroidism is characterized by hypercalcemia resulting from autonomous parathyroid hormone production and usually occurs after a prolonged period of secondary hyperparathyroidism. This condition can be a complication of X-linked hypophosphatemia (XLH), a rare genetic disease characterized by renal phosphate loss and consequent hypophosphatemia. Parathyroidectomy is considered the first-line therapy but surgical intervention can be complicated by hungry bone syndrome.
View Article and Find Full Text PDFUse of Whole-Exome Sequencing and Pedigree Analysis to Identify X-linked Hypophosphatemia in Saudi Arabian Families.
J Endocr Soc
November 2024
College of Medicine, Alfaisal University, Riyadh, 11211, Saudi Arabia.
Context: X-linked hypophosphatemia (XLH) is the most common form of inherited hypophosphatemic rickets (HR), caused by pathogenic variants in the gene. Genetic diagnosis of XLH facilitates early treatment optimization, especially for patients suitable for burosumab, a recombinant anti-fibroblast growth factor-23 monoclonal antibody.
Objective: This study aimed to use whole-exome sequencing (WES) and pedigree analysis to identify patients with XLH.
18F-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.
Objective: This study aims to report the application of 18F-AlF-NOTA-Octreotide PET/CT and 3D printing technology in the diagnosis and treatment of phosphaturic mesenchymal tumors (PMT) in patients with tumor-induced osteomalacia (TIO).
Case Presentation: A 68-year-old male patient (Case 1) was admitted to the Weifang People's Hospital in August 2022 with complaints of "persistent pain in the bilateral flank and lumbosacral region". 18F-AlF-NOTA-Octreotide PET/CT showed high octreotide expression in the left femoral region.
Clinical management of hypophosphatemic osteomalacia induced by adefovir and tenofovir: Insights from a case report.
Medicine (Baltimore)
November 2024
Department of Endocrinology, Lishui Central Hospital, the Fifth Affiliated Hospital of Wenzhou Medical University, Lishui, Zhejiang Province, China.
Article Synopsis
- Hypophosphatemic osteomalacia is a rare condition marked by low phosphate levels, which can occur due to genetic or acquired factors, and a case study discusses its management and prognosis when caused by specific antiviral drugs.
- A 55-year-old man with chronic hepatitis B experienced symptoms like chest pain and fatigue after switching from adefovir to tenofovir, leading to the diagnosis of drug-induced hypophosphatemic osteomalacia.
- Treatment included stopping the problematic drugs, switching to entecavir, and recommending dietary changes and supplements, which resulted in improved phosphate levels and resolution of symptoms.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!