Hypophosphatemic rickets
Overview
Hypophosphatemic rickets: A rare genetic type of rickets involving defective phosphate transport and vitamin D metabolism in the kidneys. Poor calcium absorption from the intestines leads to bone softening.
Symptoms
Rickets Bowed legs Growth deficiency Short stature Dental problems
Causes
As with all medical conditions, there may be many causal factors. Further relevant information on causes of Hypophosphatemic rickets may be found in: Hidden causes of Hypophosphatemic rickets
Treatment
Medical Care Treatment can be safely administered on an outpatient basis, although serum calcium concentrations must be periodically and carefully monitored. Conscientious follow-up is essential. The usual vitamin D preparations are not useful for treatment in this disorder because they lack significant 1-alpha-hydroxylase activity. Original treatment protocols advocated vitamin D at levels of 25,000-50,000 U/d (at the lower limit of toxic dosage), which placed the patient in jeopardy of frequent hypercalcemic episodes. Calcitriol is now more widely available and substantially diminishes, but does not eliminate, this risk. Amiloride and hydrochlorothiazide are administered to enhance calcium reabsorption and to reduce the risk of nephrocalcinosis. Surgical Care Osteotomy to realign extremely distorted leg curvatures may be necessary for children whose diagnosis was delayed or whose initial treatment was inadequate. Skull deformity may require treatment for synostosis. Spontaneous abscesses often require periodic dental procedures.