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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 PDFEtiology, clinical characteristics, genetic profile, and outcomes of children with refractory rickets at a referral center in India: a cohort study.
Pediatr Nephrol
January 2025
Pediatric Nephrology Services, Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry, 605006, India.
Background: Limited research exists regarding the genetic profile, clinical characteristics, and outcomes of refractory rickets in children from India.
Methods: Patients with refractory rickets aged ≤ 18 years were enrolled. Data regarding clinical features, etiology, genotype-phenotype correlation, and estimated glomerular filtration rate (eGFR) were recorded.
Hypophosphatemic Rickets as a Key Sign for the Diagnosis of Hereditary Tyrosinemia Type 1: Case Reports and Narrative Review of the Literature.
Rev Med Chil
September 2024
Hospital de Niños Dr. Roberto del Río, Santiago, Chile.
Hereditary tyrosinemia type 1 (HT-1) is an inborn error of metabolism caused by a defect in tyrosine (tyr) degradation. This defect results in the accumulation of succinylacetone (SA), causing liver failure with a high risk of hepatocarcinoma and kidney injury, leading in turn to Fanconi syndrome with urine loss of phosphate and secondary hypophosphatemic rickets (HR). HT-1 diagnosis is usually made in infants with acute or chronic liver failure or by neonatal screening programs.
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 PDFClinical, Radiographic, and Molecular Analysis of Patients with X-Linked Hypophosphatemic Rickets: Looking for Phenotype-Genotype Correlation.
Diagnostics (Basel)
January 2025
Departamento de Medicina Genómica, Instituto Nacional de Rehabilitación, Calzada México-Xochimilco 289, Col. Arenal de Guadalupe, Ciudad de México 14389, Mexico.
Background/objectives: X-linked hypophosphataemic rickets (XLH) represents the most frequent type of rickets from genetic origin, it is caused by mutations on the gene. The main clinical manifestations are short stature and bone deformities. Phenotype variation is observed at the intrafamily and interfamily level.
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