X-linked hypophosphatemic rickets

X-linked hypophosphatemic rickets

A condition characterized by impaired proximal renal tubule resorption of phosphate, coupled with a relative ↓ of 1,25-dihydroxyvitamin D production Clinical Growth failure, bowing of legs, hypophosphatemia, radiologic changes of rickets Management Calcitriol, phosphate Complications Kidney stone formation reflects phosphate levels
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FGF23 is being researched in the context of X-linked hypophosphatemic rickets, mineral bone disorder (MBD), chronic kidney disease (CKD), tumor-induced osteomalacia and hyperphosphatemia.
Development of CPPD crystal deposition disease in young people (<55 years) may be associated with metabolic diseases such as hemochromatosis, hyperparathyroidism, hypomagnesemia, Wilson's disease, hypothyroidism, gout, acromegaly, and X-linked hypophosphatemic rickets.
The processing of DMP1 is crucial in osteogenesis and dentinogenesis, and a failure in this processing would cause defective mineralisation in bone and dentine, as observed in X-linked hypophosphatemic rickets.

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