Search for dissertations about: "autosomal dominant hypophosphatemic rickets"

Found 3 swedish dissertations containing the words autosomal dominant hypophosphatemic rickets.

  2. 1. The Role of Fibroblast Growth Factor 23 in Phosphate Homeostasis

    Author : Tobias Erik Martin Larsson; Kenneth Jonsson; Östen Ljunggren; Suzanne Jan De Beur; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Medicine; Fibroblast Growth Factor 23; FGF-23; phosphate homeostasis; vitamin D metabolism; sodium phosphate cotransporters; autosomal dominant hypophosphatemic rickets; ADHR; X-linked hypophosphatemic rickets; XLH; oncogenic osteomalacia; OOM; PHEX; Medicin; Dermatology and venerology; clinical genetics; internal medicine; Dermatologi och venerologi; klinisk genetik; invärtesmedicin;

    Abstract : 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. READ MORE

  4. 2. The role of fibroblast growth factor-23 in chronic kidney disease-mineral and bone disorder

    Author : Majd A. I. Mirza; Tobias Larsson; Tilman Drüeke; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; FGF23; FGF-23; CKD; CKD-MBD; cardiovascular disease; vascular function; atherosclerosis; hypertrophy; LVMI; LVH; fractures; bone; fat mass; obesity; apolipoproteins; cholesterol; lipids; Kidney diseases; Njursjukdomar; Cardiovascular medicine; Kardiovaskulär medicin; Medicinsk vetenskap; Medical Science;

    Abstract : 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. READ MORE

  5. 3. Fibroblast growth factor-23 and Klotho in bone/mineral and parathyroid disorders

    Author : Tijana Krajisnik; Tobias E. Larsson; Kenneth B. Jonsson; Östen Ljunggren; Peyman Björklund; Gunnar Sterner; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; calcitriol; chronic kidney disease; CKD; chronic renal failure; fibroblast growth factor 23; fibroblast growth factor-23; FGF23; FGF-23; GalNac-T3; GALNT3; GFR; hyperostosis-hyperphosphatemia syndrome; HHS; Klotho; parathyroid hormone; PTH; hyperparathyroidism; pHPT; sHPT; uremic; vitamin D3; Endocrinology; Endokrinologi; Internal Medicine; invärtesmedicin;

    Abstract : 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. READ MORE