Top rickets Articles in Internal Medicine

Predisposition to vitamin D deficiency osteomalacia and rickets in females is linked to their 25(OH)D and calcium intake rather than vitamin D receptor gene polymorphism
Clinical Endocrinology, 08/20/2009

Ray D et al. – Among the immediate family members of patients with OSM/rickets, female sibs have features of biochemical OSM in up to 24 ... with patients features of markedly low serum 25(OH)D levels, poor dietary calcium intake and poor exposure to sunshine. Genetic factors such as VDR and PTH gene SNPs were not associated with OSM/rickets. [more...]

An autosomal dominant hypophosphatemic rickets phenotype in a Tunisian family caused by a new FGF23 missense mutation
Journal of Bone and Mineral Metabolism, 08/10/2009

Gribaa M et al. – The results confirm the importance of this site in FGF23 function and its essential role in ADHR physiopathology. [more...]

Hip and Knee Arthroplasty in Hypophosphatemic Rickets
Journal of Arthroplasty, 08/14/2009

Larson AN et al. – One cemented THA failed due to femoral aseptic loosening at 13 years postoperatively; all other implants remained well fixed. Lower extremity arthroplasty is effective and durable for patients with arthritis associated with hypophosphatemic rickets, but corrective [more...]

Hypophosphatemic Rickets with Hypercalciuria due to Mutation in SLC34A3/Type IIc Sodium-Phosphate Cotransporter: Presentation as Hypercalciuria and Nephrolithiasis
Journal of Clinical Endocrinology and Metabolism, 10/15/2009

Tencza AL et al. – The authors report a novel mutation in the SLC34A3 gene in a patient with an unusual presentation of HHRH ... mutations in the SLC34A3 gene, respectively, providing further evidence for a gene dosage effect in determining the phenotype. HHRH may be an underdiagnosed condition that can masquerade as idiopathic hypercalciuria or osteopenia. [more...]

Benefits of molecular pathology in the diagnosis of musculoskeletal disease
Skeletal Radiology, 08/24/2009

osteoclast–rich lesions,” some of which harbor germline mutations. It also addresses the importance of phosphate metabolism in skeletal disorders including phosphaturic mesenchymal tumor, vitamin D–resistant rickets, and tumoral calcinosis. [more...]

The Journey From Vitamin D-Resistant Rickets to the Regulation of Renal Phosphate Transport
Clinical Journal of the American Society of Nephrology, 11/16/2009

Levine BS et al. – Using a conceptual approach, we suggest that a defect in the skeletal response to parathyroid hormone contributes to hyperparathyroidism in XLH. Finally, at the end of the review [more...]

A familial disorder with low bone density and renal phosphate wasting
European Journal of Internal Medicine, 08/28/2009

have been investigated and the majority appears to have low bone density and/or renal phosphate wasting and/or low serum phosphate. Remarkably no rickets was found. No elevation of FGF23 or mutations in the gene encoding FGF23 were found. [more...]

Oral calcium supplementation reverses the biochemical pattern of parathyroid hormone resistance in underprivileged Indian toddlers
BMJ - Archives of Diseases in Childhood, 08/24/2009

Khadilkar A et al. – No subject had clinical or radiological evidence of rickets. There was a significant increase in mean serum iCa concentration in supplemented but not in the placebo group. The decrease in mean serum Pi concentration [more...]