Sökning: "autosomal dominant hypophosphatemic rickets"
Hittade 3 avhandlingar innehållade orden autosomal dominant hypophosphatemic rickets.
1. The Role of Fibroblast Growth Factor 23 in Phosphate Homeostasis
Sammanfattning : The regulation of serum phosphate (Pi) concentrations is a complex process and our current models are far from complete. Due to major advancements in biotechnology and the development of more powerful research tools, recent advances in the field of genetics has led to the identification of several candidates for the long sought-after phosphatonin(s), or Pi regulating hormones. LÄS MER
2. The role of fibroblast growth factor-23 in chronic kidney disease-mineral and bone disorder
Sammanfattning : Fibroblast growth factor-23 (FGF23) was initially identified as the causative factor of autosomal dominant hypophosphatemic rickets. Further studies confirmed that FGF23 is predominantly expressed in the osteocytes and osteoblasts of bone and that circulating FGF23 acts on the kidney to inhibit renal phosphate reabsorption and 1,25(OH)2D3 hydroxylation. LÄS MER
3. Fibroblast growth factor-23 and Klotho in bone/mineral and parathyroid disorders
Sammanfattning : Fibroblast growth factor-23 (FGF23) is a novel, bone-produced hormone that regulates renal phosphate (Pi) reabsorption and calcitriol metabolism. Disorders of mineral and bone metabolism, such as autosomal dominant hypophosphatemic rickets (ADHR) and hyperostosis-hyperphosphatemia syndrome (HHS), witness the importance of well-balanced serum levels of FGF23. LÄS MER