Results 191 to 200 of about 4,392 (235)

Dental Alterations Associated with X-Linked Hypophosphatemic Rickets

Journal of Endodontics, 2004
The X-linked hypophosphatemic rickets is a rare metabolic disorder characterized by low serum phosphate levels caused by a decreased renal tubular reabsorption of inorganic phosphates. The initial complaints are a delay in the development of walking caused by deformity of the legs. Oral findings include poorly mineralized dentin, enlarged pulp chambers
Claudio Maranhão, Pereira, Cleverton Roberto, de Andrade, Pablo Agustín, Vargas, Ricardo Della, Coletta, Oslei Paes, de Almeida, Márcio Ajudarte, Lopes   +5 more
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X-linked hypophosphatemic rickets: Diagnosis in adult and paucisymptomatic form

Reumatología Clínica (English Edition), 2021
X-linked hypophosphataemic rickets (XLH) is the main form of hereditary rickets caused by mutation of the PHEX gene and occurs mainly in childhood. Clinically, it causes growth retardation and bone deformities; however, there are atypical forms of presentation that make diagnosis difficult.
Luis Carlos, López-Romero, Jose Jesús, Broseta, Elena, Guillén Olmos, Ramón Jesús, Devesa-Such, Julio, Hernández-Jaras   +4 more
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Effects of Therapy in X-Linked Hypophosphatemic Rickets

New England Journal of Medicine, 1991
Patients with X-linked hypophosphatemic rickets, which is clinically manifested by growth failure and bowing of the legs, are usually treated with phosphate and a vitamin D preparation. However, the efficacy of this treatment has been disputed, and nephrocalcinosis is a recognized complication of therapy.We studied 24 patients with X-linked ...
C F, Verge, A, Lam, J M, Simpson, C T, Cowell, N J, Howard, M, Silink   +5 more
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X-linked Hypophosphatemic Rickets Associated With Respiratory Failure

Clinical Pediatrics, 2008
We report a 5-year-old girl who presented to our emergency room with respiratory arrest and limb deformities and was subsequently diagnosed with X-linked hypophosphatemic rickets. On normalization of the serum phosphorus concentration, her respiratory distress resolved, illustrating that untreated X-linked hypophosphatemic rickets can lead to life ...
Andrea, Balazs, George, Jeha, Sheila K, Gunn, Lefkothea P, Karaviti   +3 more
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X-Linked Hypophosphatemic Rickets and Craniosynostosis

Journal of Craniofacial Surgery, 2009
Bone mineralization is possible via complex interactions among fibroblast growth factor 23 (FGF23), phosphate-regulating gene with homologies to endopeptidases on the X-chromosome (PHEX), and matrix extracellular phosphoglycoprotein. A loss-of-function mutation in PHEX disrupts this interaction leading to hypophosphatemic rickets.
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X-linked hypophosphatemic rickets and the murine Hyp homologue

American Journal of Physiology-Renal Physiology, 1995
Recent studies have reported the cloning of several sodium-dependent phosphate cotransport proteins from the apical membrane of proximal tubules of several species. The human proximal tubule apical sodium-phosphate cotransport protein maps to chromosome 5 in the 5q35 region, indicating that this gene is not a candidate for the genetic defect leading ...
K A, Hruska, L, Rifas, S L, Cheng, A, Gupta, L, Halstead, L, Avioli   +5 more
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X-linked Hypophosphatemic Rickets: the Challenges of Treatment

Clinical Reviews in Bone and Mineral Metabolism, 2019
X-linked dominant hypophosphatemic rickets (XLHR) is the most common inherited form of rickets due to a mutation in the phosphate regulating gene with homologies to endopeptidases on the X chromosome (PHEX gene) expressed in bones and teeth. This leads to impaired renal reabsorption of phosphate and defective bone mineralization.
Jessica Sammut, Miriam Giordano Imbroll, Mark Gruppetta   +2 more
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X‐linked hypophosphatemic rickets: A probable upper paleolithic case

American Journal of Physical Anthropology, 1995
AbstractThe skeleton of a middle‐aged adult male, found in the Late Epigravettian necropolis of Arene Candide cave (Italy) and dated to the XII millenniumB.C., exhibits abnormal changes, including bowing deformities, stunted growth, enthesopathies, and increased bone density.
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Craniosynostosis as the Presenting Feature of X-linked Hypophosphatemic Rickets

Pediatrics, 2018
Craniosynostosis is the premature closure of cranial sutures. Primary, or congenital, craniosynostosis is often sporadic but may be associated with genetic or chromosomal abnormalities. Secondary craniosynostosis presents after gestation, and can occur in metabolic bone diseases, including rickets.
Janaki D, Vakharia, Kristal, Matlock, Helena O, Taylor, Philippe F, Backeljauw, Lisa Swartz, Topor   +4 more
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Longitudinal Growth in X-linked Hypophosphatemic Rickets

2011
X-linked hypophosphatemic rickets (XLH) is the most prevalent form of inherited rickets associated with a disorder of phosphate homeostasis. It is caused by deactivating mutations in the PHEX gene. The clinical manifestations are characterized by growth retardation, skeletal deformities, osteomalacia, dental abscesses, and bone pain.
Marius Schumacher, Olaf Hiort
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