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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 PDFSafety and Efficacy of Ferric Carboxymaltose for Iron Deficiency Anemia in Inflammatory Bowel Disease: A Systematic Review.
Cureus
December 2024
Internal Medicine, California Institute of Behavioral Neurosciences and Psychology, Fairfield, USA.
Ulcerative colitis and Crohn's disease, two types of inflammatory bowel disease (IBD), often cause anemia, primarily due to iron deficiency and chronic inflammation. Anemia negatively affects patients' daily functioning and quality of life, causing symptoms including headaches, exhaustion, and dyspnea. In IBD, iron deficiency arises from reduced intake, chronic blood loss, and impaired absorption.
View Article and Find Full Text PDFProceedings of the 2024 Santa Fe Bone Symposium: Update on the Management of Osteoporosis and Rare Bone Diseases.
J Clin Densitom
December 2024
Hospital for Special Surgery, New York, NY, USA.
The 24 Annual Santa Fe Bone Symposium (SFBS) was held in Santa Fe, New Mexico, USA, on August 2-3, 2024. This was a "hybrid" meeting, with in-person and real-time remote participants representing a broad range of geographical locations and medical disciplines. The focus was on new developments in the care of patients with osteoporosis, other metabolic bone diseases, and inherited skeletal disorders.
View Article and Find Full Text PDFClinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.
Nat Rev Nephrol
January 2025
APHP, Reference Center for Rare Diseases of Calcium and Phosphate Metabolism, and Filière OSCAR, endo ERN and ERN BOND, Paris, France.
X-linked hypophosphataemia (XLH) is a rare metabolic bone disorder caused by pathogenic variants in the PHEX gene, which is predominantly expressed in osteoblasts, osteocytes and odontoblasts. XLH is characterized by increased synthesis of the bone-derived phosphaturic hormone fibroblast growth factor 23 (FGF23), which results in renal phosphate wasting with consecutive hypophosphataemia, rickets, osteomalacia, disproportionate short stature, oral manifestations, pseudofractures, craniosynostosis, enthesopathies and osteoarthritis. Patients with XLH should be provided with multidisciplinary care organized by a metabolic bone expert.
View Article and Find Full Text PDFSystematic Review: Efficacy of Medical Therapy on Outcomes Important to Pediatric Patients with X-Linked Hypophosphatemia.
J Clin Endocrinol Metab
January 2025
Department of Health Research Methods, Evidence, and Impact, McMaster University, Hamilton, ON, Canada.
Objective: To examine the evidence addressing the management of X-linked hypophosphatemia (XLH) in children to inform treatment recommendations.
Methods: We searched Embase, MEDLINE, Web of Science, and Cochrane Central up to May 2023. Eligible studies included RCTs and observational studies of individuals less than 18yrs with clinically or genetically confirmed XLH.
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