Results 151 to 160 of about 7,235,288 (192)

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 T Cowell
exaly   +3 more sources

X-linked hypophosphatemic rickets without ?rickets?

Skeletal Radiology, 1991
Wrist and knee radiographs from children with X-linked hypophosphatemic rickets were analyzed and compared with those from normal children and children with established rickets to assess whether radiographically apparent rickets is a consistent abnormality in X-linked hypophosphatemia. The absence or presence of rickets was correctly identified in 94.8%
M J, Econs, J R, Feussner, G P, Samsa, E L, Effman, J B, Vogler, S, Martinez, N E, Friedman, L D, Quarles, M K, Drezner   +8 more
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Therapeutics of X-linked hypophosphatemic rickets

Pediatric Nephrology, 1993
X-linked hypophosphatemia, the most common form of familial rickets, is conventionally treated with 1,25-dihydroxyvitamin D3 (5-50 ng/kg per day) plus phosphate supplementation (70-100 mg/kg per day). However, nephrocalcinosis is noted in many children treated with this therapy.
K, Latta, S, Hisano, J C, Chan
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Growth in X-linked hypophosphatemic rickets

European Journal of Pediatrics, 2006
Growth failure appears frequently in children with X-linked hypophosphatemic rickets (XLHR) due to hypophosphatemia, disease severity, body disproportion, and primary bone abnormality. Recombinant human growth hormone (rhGH) increases phosphate tubular reabsorption and phosphate level in blood and, thus, constitutes an attractive but controversial ...
Gema, Ariceta, Craig B, Langman
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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: 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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Hearing impairment in familial X-linked hypophosphatemic rickets

European Journal of Pediatrics, 2004
Hearing impairment in patients with X-linked dominant hypophosphatemic rickets (XLH) is likely part of the natural history of the disease, developing during adulthood. Therefore, whereas close follow up and hearing monitoring is recommended in adults, serial audiograms in children with XLH are not justified. Furthermore, in a child with XLH and hearing
Gadi, Fishman, Denise, Miller-Hansen, Cynthia, Jacobsen, Virender K, Singhal, Uri S, Alon   +4 more
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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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Sagittal synostosis in X-linked hypophosphatemic rickets and related diseases

Pediatric Radiology, 2007
The recent observations of two new cases of X-linked hypophosphatemic rickets associated with premature closure of the sagittal suture prompted a review of similar cases seen in this institution.To review the clinical records and skull radiographs of 28 children with hypophosphatemic rickets in order to investigate the frequency and type of ...
exaly   +3 more sources