Hypophosphatemic Rickets

Hypophosphatemic rickets is a rare genetic disorder that leads to softening and weakening of bones due to low levels of phosphate in the blood. It is characterized by delayed physical growth, weak muscles, bow legs, dental deformities, and skeletal deformities such as bowing of the long bones, delayed closure of the spinal growth plates, and widening of the wrists and ankles.

In the most typical form, X-linked hypophosphatemic rickets (XLH), the condition is caused by a mutation of the PHEX gene, which is involved in controlling levels of phosphate in the body. In rarer cases, hypophosphatemic rickets can be caused by other genetic mutations, metabolic disorders, chronic kidney diseases, or certain medical treatments.

The diagnosis of hypophosphatemic rickets is made based on the physical appearance of the patient and clinical tests, including blood tests to measure levels of phosphate and alkaline phosphatase.

Treatment of hypophosphatemic rickets is aimed at restoring normal levels of phosphorus in the body through diet and supplementation with oral phosphate, which helps the body store phosphorus in the bones. In addition, vitamin D supplementation may also be used to increase phosphorus absorption. Orthopedic treatments may be required in cases of skeletal deformities.

Below are some of the possible complications that can arise from hypophosphatemic rickets:

Weak bones and skeletal deformities
Delayed growth and development
Muscle weakness, fatigue, and pain
Impaired balance and coordination
Bone fractures
Skeletal defects and dental deformities
Kidney stones
High levels of calcium in the blood (hypercalcemia)