Abstract
X-linked hypophosphatemic rickets is a disorder characterized by renal phosphate wasting and subsequent bone demineralization. It is caused by a loss of function mutation of the phosphate regulating endopeptidase gene on the X chromosome leading to an increased production of fibroblast growth factor 23 (FGF23). Increased FGF23 inhibits phosphate reabsorption in the kidney. The resulting hypophosphatemia leads to bone demineralization and rickets. Standard treatment includes phosphate supplementation which lowers ionized calcium concentration eliciting an upregulation of parathyroid hormone (PTH). Progression to tertiary hyperparathyroidism due to development of autonomous hyperfunction of the parathyroid glands has been reported. We present a rare case of X-linked hypophosphatemic rickets with tertiary hyperparathyroidism.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
