Hypophosphatemic rickets is a disorder in which the bones become painfully soft and bend easily because the blood contains low levels of the electrolyte phosphate.
(See also Introduction to Congenital Kidney Tubular Disorders.)
This very rare disorder is nearly always hereditary and is most commonly inherited as a dominant gene that is carried on the X chromosome, one of the two sex chromosomes.
The genetic defect causes a kidney tubule abnormality that allows an inappropriately high amount of phosphate to be excreted into the urine, resulting in low levels of phosphate in the blood. Because bones need phosphate for growth and strength, this deficiency causes defective bones. Females with hypophosphatemic rickets have less severe bone disease than do males.
In rare cases, the disorder develops as a result of certain cancers, such as giant cell tumors of bone, sarcomas, prostate cancer, and breast cancer. Hypophosphatemic rickets is not the same as rickets caused by vitamin D deficiency.

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