hypophosphatemic rickets

rickets /rick·ets/ (rik´ets) a condition due to vitamin D deficiency, especially in infancy and childhood, with disturbance of normal ossification, marked by bending and distortion of the bones, nodular enlargements on the ends and sides of the bones, delayed closure of the fontanelles, muscle pain, and sweating of the head.

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adult rickets  osteomalacia.

familial hypophosphatemic rickets  any of several inherited disorders of proximal renal tubule function causing phosphate loss, hypophosphatemia, and skeletal deformities, including rickets and osteomalacia.

fetal rickets  achondroplasia.

hereditary hypophosphatemic rickets with hypercalciuria  a form of familial hypophosphatemic rickets; hypophosphatemia is accompanied by elevated serum 1,25-dihydroxyvitamin D, increased intestinal absorption of calcium and phosphate, and hypercalciuria.

hypophosphatemic rickets  any of a group of disorders characterized by rickets associated with hypophosphatemia, resulting from dietary phosphorus deficiency or due to defects in renal tubular function; skeletal deformities are present but hypocalcemia, myopathy, and tetany are absent and serum parathyroid hormone is normal.

oncogenous rickets  oncogenous osteomalacia occurring in children.

pseudovitamin D–deficiency rickets  vitamin D, sometimes specifically the type I form.

refractory rickets  vitamin D

vitamin D–dependent rickets  either of two (types I and II) inherited disorders characterized by myopathy, hypocalcemia, moderate hypophosphatemia, secondary hyperparathyroidism, and subnormal serum concentrations of 1,25-dihydroxyvitamin D; type I can be overcome by high doses of vitamin D, but type II cannot.

vitamin D–resistant rickets 

1. X-linked hypophosphatemia.

2. any of a group of disorders characterized by rickets but not responding to high doses of vitamin D; most are forms of familial hypophosphatemic rickets.

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hypophosphatemic rickets

[hī′pōfos′fətē′mik]

a rare familial disorder characterized by impaired resorption of phosphate in the kidneys and poor absorption of calcium in the small intestine, which result in osteomalacia, retarded growth, skeletal deformities, and pain. Treatment includes replacement of phosphate and vitamin D, to be taken by mouth.