Hypophosphatemic rickets

Hypophosphatemic rickets (previously called vitamin D-resistant rickets) is a disorder of bone mineralization caused due to defects (inherited/acquired) in the renal handling of phosphorus, most commonly from increased renal excretion of phosphate. It is a form of rickets that is characterized by low serum phosphate levels and resistance to treatment with ultraviolet radiation or vitamin D ingestion.

Vitamin D helps patient’s body absorb calcium and phosphorus from food. Not enough vitamin D makes it difficult to maintain proper calcium and phosphorus levels in bones, which can cause rickets. In this disorder, the bones become painfully soft and bend easily, due to low levels of phosphate in the blood.

Most of the hypophosphatemic disorders are inherited, though they may rarely be acquired (tumor-induced osteomalacia, drug-induced Fanconi syndrome).

Major symptoms of this type of rickets include bowed legs, bone pain or tenderness, restlessness and slow growth. Many people with mild hypophosphatemia don’t have symptoms. Symptoms may not appear until your phosphate levels drop very low. The most common ages for symptoms of a disease to begin is called age of onset.

Very severe hypophosphatemia that is not treated can affect the patient breathing and heart function, and can be life threatening.
Hypophosphatemic rickets