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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X-linked hypophosphatemic rickets: Enamel abnormalities and oral clinical findings.
Hypophosphatemia is not associated with race or gender in Caucasians except X-linked hypophosphatemic rickets. Acquired hypophosphatemia is most commonly seen during the transition from puberty to adulthood.
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.
Effects of therapy in X-linked hypophosphatemic rickets. N Engl J Med 1991;325:1843-1848.
Early treatment improves growth and biochemical and radiographic outcome in X-linked hypophosphatemic rickets. J Clin Endocrinol Metab 2003;88:3591-3597.
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. Unlike in gout, there is currently no effective treatment that reduces or removes calcium pyrophosphate crystals from a joint.
The inherited causes of hypophosphatemic osteomalacia include X-linked hypophosphatemic rickets (XLH), autosomal dominant hypophosphatemic rickets (ADHR), autosomal recessive hypophosphatemic rickets (ARHR), and hereditary hypophosphatemic rickets with hypercalciuria (HHRH) which are biochemical equivalents of TIO with high or inappropriately normal levels of FGF23 [1, 13].
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. Functional studies have demonstrated that DMP1 is essential in the maturation of odontoblasts and osteoblasts, as well as in mineralisation via local and systemic mechanisms [Feng et al., 2003].
Premature cranial synostosis in X-linked hypophosphatemic rickets: possible precipitation by 1 alpha-OH-cholecalciferol intoxication.
Dental alterations associated with X-linked hypophosphatemic rickets. J Endod 2004;30(4):241-5.

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