Mineralized tissues in hypophosphatemic rickets.

Pediatric Nephrology : Journal of the International Pediatric Nephrology Association
Marie-Eve RobinsonFrank Rauch

Abstract

Hypophosphatemic rickets is caused by renal phosphate wasting that is most commonly due to X-linked dominant mutations in PHEX. PHEX mutations cause hypophosphatemia indirectly, through the increased expression of fibroblast growth factor 23 (FGF23) by osteocytes. FGF23 decreases renal phosphate reabsorption and thereby increases phosphate excretion. The lack of phosphate leads to a mineralization defect at the level of growth plates (rickets), bone tissue (osteomalacia), and teeth, where the defect facilitates the formation of abscesses. The bone tissue immediately adjacent to osteocytes often remains unmineralized ("periosteocytic lesions"), highlighting the osteocyte defect in this disorder. Common clinical features of XLH include deformities of the lower extremities, short stature, enthesopathies, dental abscesses, as well as skull abnormalities such as craniosynostosis and Chiari I malformation. For the past four decades, XLH has been treated by oral phosphate supplementation and calcitriol, which improves rickets and osteomalacia and the dental manifestations, but often does not resolve all aspects of the mineralization defects. A newer treatment approach using inactivating FGF23 antibodies leads to more stable control of...Continue Reading

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Citations

Aug 11, 2020·Journal of Bone and Mineral Metabolism·Giampiero I BaroncelliMaria Rita Giuca
Mar 16, 2021·Frontiers in Endocrinology·Danielle M A RatsmaBram C J van der Eerden
Apr 28, 2021·European Journal of Oral Sciences·Hua ZhangChunlin Qin
May 21, 2021·BMJ Case Reports·Cathrine ConstantacosAndrew Michael South
Sep 16, 2021·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Maximilian M DelsmannTim Rolvien

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