Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1159/000414506 | 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 PDFBase of Skull & Spinal Canal Narrowing in an Adolescent with Autosomal Recessive Hypophosphatemic Rickets Type 2.
Calcif Tissue Int
January 2025
Department of Paediatric Endocrinology, Alder Hey Children's Hospital, Liverpool, UK.
Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) is an uncommon hereditary form of rickets characterised by chronic renal phosphate loss and impaired bone mineralisation. This results from compound heterozygous or homozygous pathogenic variants in ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), a key producer of extracellular inorganic pyrophosphate (PPi) and an inhibitor of fibroblast growth factor23 (FGF23). ENPP1 deficiency impacts FGF23 and increases its activity.
View Article and Find Full Text PDFPhosphorus-independent role of FGF23 in erythropoiesis and iron homeostasis.
PLoS One
December 2024
Department of Molecular Pathobiology, New York University College of Dentistry, New York, NY, United States of America.
A number of studies have reported an association between phosphorus, red blood cell (RBC) production, and iron metabolism. However, it is difficult to distinguish whether the effect of phosphorus is direct or through the actions of FGF23, and it is not clear whether phosphorus is positively or negatively associated with RBC production. In the present study, we investigated the effects of a) increased phosphorus load and b) phosphorus deficiency on erythropoiesis and iron metabolism in association with FGF23.
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 PDFClinical presentation and burden of ENPP1 deficiency in adults.
Arch Pediatr
September 2024
Musculoskeletal Center Würzburg, University Hospital Würzburg, Brettreichstr. 11, 97074 Würzburg, Germany. Electronic address:
While the clinical consequences of severe ENPP1 deficiency leading to the rare disorders generalized arterial calcification of infancy (GACI) and autosomal recessive hypophosphatemic rickets type 2 (ARHR2) are well defined and understood, much less is known about how this evolves into adulthood and how moderate ENPP1 deficiency can first manifest in adulthood. Moreover, growing evidence substantiates an association of genetic variants in the ENPP1 gene with a wide range of further clinical manifestations including early-onset osteoporosis, osteoarthritis, and different forms of spinal ligament calcifications, i.e.
View Article and Find Full Text PDFWant 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!