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Hypophosphatemic Rickets


Defect in renal tubular reabsorption of inorganic phosphate.

Clinical Manifestations

Wide phenotypic variability. Early onset of growth retardation, lower limb deformities and radiological abnormalities. Less frequently observed, bone pain in adults and dental defects secondary to caries and abscesses.


Clinical and radiological signs of rickets, hypophosphatemia, hyperphosphaturia and high levels of alkaline phosphatase. Normocalcemia with normal PTH ,calcidiol and calcitriol levels. The hypercalciuric form of the disease has high levels of calcidiol and calcitriol.


Associated with mutations in four genes: PHEX (dominant inheritance pattern linked to chromosome X), FGF23 (autosomal dominant), DMP1 (autosomal recessive form without hypercalciuria) and SLC34A3 (autosomal recessive form with hypercalciuria). For the genetic study it will be necessary samples of the index case and the parents.


Oral phosphate salts several times a day and vitamin D derivatives such as calcitriol or alfacalcidiol. In the hypercalciuric form, no vitamin D derivatives are used.


Hereditary dRTA is a permanent circumstance, with an excellent prognosis if therapy is established as soon as possible.


Por lo general, derivadas del tratamiento con metabolitos de la vitamina D y sales de fosfato (hipercalcemia, hipercalciuria, nefrocalcinosis).


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