X-Linked Hypophosphatemic Rickets
Four Cases of X Linked Hypophosphatemic Rickets, Clinical Description and Genetic Testing
... of rickets is hypophosphatemia, which is usually presented without the characteristic signs of hypocalcemic rickets such as involvement of ribs and upper ...of hypophosphatemic rickets in the ...
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Evaluation of a Role for 1,25 Dihydroxyvitamin D3 in the Pathogenesis and Treatment of X linked Hypophosphatemic Rickets and Osteomalacia
... maximum for the reabsorption of phosphate per liter of glomerular filtrate (2.12±0.09 mg/dl); normal serum immunoreactive parathyroid hormone concentration; negative phosphate balance; and bone biopsy evidence of ...
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<p>PHEX Gene Mutation in a Patient with X-Linked Hypophosphatemic Rickets in a Developing Country</p>
... X-linked hypophosphatemic rickets (XLHR, MIM 307,800), also known as vitamin D resistant rickets, familial hypophosphatemic rickets, or phosphate diabetes, is part of a ...
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Craniosynostosis as the Presenting Feature of X-linked Hypophosphatemic Rickets
... 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 ...
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Healing of bone disease in X linked hypophosphatemic rickets/osteomalacia Induction and maintenance with phosphorus and calcitriol
... supplementation) is usually successful in healing the rachitic bone lesion in patients with X- linked hypophosphatemic rickets, it does not heal the coexistent osteomalacia. Because serum ...
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Increased renal catabolism of 1,25 dihydroxyvitamin D3 in murine X linked hypophosphatemic rickets
... hypophosphatemic rickets, is characterized by renal defects in brush border membrane phosphate transport and vitamin D3 metabolism. The present study was undertaken to examine whether elevated renal ...
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Cloning of large regions of mammalian genomes: The molecular genetics of X-linked hypophosphatemic rickets
... D X S1683, and DXS1686, ...D X S365 locus, strongly d etects an 80-kb B ssH II fragm ent and a weaker partial digest fragm ent of —160 kb, and neither can be correlated w ith a situation at eith er end of ...
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Exaggerated phosphaturic response to circulating parathyroid hormone in patients with familial X linked hypophosphatemic rickets
... familial x-linked hypophosphatemic vitamin D-resistant rickets (FHR), we examined the phosphaturic response to parathyroid extract (PTE) (administered intravenously in the posthypercalcemic ...
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Renal Na(+) phosphate cotransport in murine X linked hypophosphatemic rickets Molecular characterization
... The X-linked Hyp mouse is characterized by a specific defect in proximal tubular phosphate (Pi) reabsorption that is associated with a decrease in Vmax of the high affinity Na(+)-Pi cotransport system in ...
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Effects of Growth Hormone Treatment on Body Proportions and Final Height Among Small Children With X-Linked Hypophosphatemic Rickets
... Conclusion. The increase in final height after rhGH treatment is of potential benefit for children with XLH. However, the exaggeration of disproportionate truncal growth observed for our prepubertal patients is a poten- ...
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Abnormal regulation of renal vitamin D catabolism by dietary phosphate in murine X linked hypophosphatemic rickets
... Our data suggest that the failure of Hyp mice to respond to dietary phosphate deprivation with increased serum levels of 1,25OH2D may be ascribed to the substantial increase in renal vit[r] ...
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Long-Term Influence of Calcitriol (1,25-Dihydroxyvitamin D) and Supplemental Phosphate in X-Linked Hypophosphatemic Rickets
... hypophosphatemic patients treated for a total of 222 treatment months with calcitriol indicates that this active vitamin D metabolite is more efficacious than vitamin D2 in this form of [r] ...
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X-linked hypophosphatemic rickets: an Italian experts’ opinion survey
... XLH is a rare inherited disease, characterized by rickets and abnormal renal phosphate losses. Unrestricted ex- pression of the phosphaturic hormone fibroblast growth factor 23 (FGF23) secondary to PHEX mutations ...
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Kbus/Idr, a mutant mouse strain with skeletal abnormalities and hypophosphatemia: Identification as an allele of 'Hyp'
... PHEX, another potent mediator of phosphate homeos- tasis, has been identified from analyses of human X- linked hypophosphatemic rickets (XLH) [12] and Hyp mutant models [13,14]. ...
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Phosphate matters when investigating hypercalcemia: a mutation in SLC34A3 causing HHRH
... dominant hypophosphatemic rickets (ADHR), autosomal recessive hypophosphatemic rickets (ARHR) and X-linked hypophosphatemic rickets ...
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Autosomal dominant hypophosphatemic rickets is linked to chromosome 12p13
... for X-linked hypophosphatemic rickets (HYP). HYP is an X-linked dominant disorder that re- sults in isolated phosphate ...
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Molecular and Biochemical Aspects of Hypophosphatemic Rickets: An Updated Review
... of x-linked disorders which consist of x-linked recessive nephrolithiasis, x-linked recessive HR, and idiopathic ...of X chromosome (xp11, 22), is responsible for ...
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Molecular analysis of enthesopathy in a mouse model of hypophosphatemic rickets
... of hypophosphatemic rickets, with an incidence of 1:20,000 in the general population (Carpenter et ...in rickets and impaired mineralization of ...
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Normal regulation of calcitriol production in Gy mice Evidence for biochemical heterogeneity in the X linked hypophosphatemic diseases
... In addition, the similarity of the autosomally transmitted human disorder hereditary hypophosphatemic rickets and hypercalciuria to the X-linked dominant disease of Gy mice suggests that[r] ...
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Pruning the ricket thicket
... excess: X-linked hypophosphatemic rick- ets (XLH), which is caused by mutations in PHEX that lead to elevated FGF23 through unknown mechanisms, and autosomal dominant hypophosphate- mic ...
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