Vitamin D Resistant Rickets
Vitamin D Resistant Rickets
Vitamin D resistant rickets, also known as resistance to activation of vitamin D, is a rare, inherited disorder caused by an abnormality in the vitamin D receptor. When affected, the body cannot effectively make use of vitamin D even though there may be normal amounts present in the body. Vitamin D is needed for the body to absorb calcium and phosphorus from the food we eat, which helps to form and maintain healthy bones.
Most people with Vitamin D resistant rickets have a mutation in the vitamin D receptor gene. They have a receptor that does not recognize and activate the vitamin D needed for the body to absorb calcium and phosphorus. These cases of rickets are usually caused by an inherited mutation. It is estimated that one in every 10,000 to one million individuals carry this gene.
Symptoms of the disorder include bowed legs, weak and soft bones, bone pain, skeletal deformities, delayed growth, short stature, and muscle weakness. These symptoms typically appear between the ages of 3-18 months, although they can range from newborn to older children and even adulthood.
Diagnosis of the disorder can be done either by testing the vitamin D receptor’s activity in the blood or by genetic testing. Although there is no cure for this disorder, treatment may include calcium and vitamin D supplements, phosphate supplements, and calcitriol treatment. Calcitriol is a synthetic form of vitamin D that helps activate the vitamin D receptor.
Other treatment options include dietary changes, physical therapy, and medications to help reduce pain and improve mobility. Children and adults with severe cases of vitamin D resistant rickets may benefit from surgery. The goal of all treatment is to relieve symptoms and improve overall health so that affected individuals can lead a healthy life.
Preventing Vitamin D Resistant Rickets
The best way to prevent vitamin D resistant rickets is to make sure that individuals are receiving the recommended amount of vitamin D. Foods rich in vitamin D, such as salmon, tuna, mackerel, and egg yolks, should be included in the diet. A daily vitamin D supplement should also be taken along with calcium. Sun exposure is also important, as the body can absorb vitamin D from the sun's ultraviolet rays.
It is also important to be aware of any family history of the disorder and to have regular check-ups and tests done to ensure that any abnormalities in the vitamin D receptors can be detected and treated early on.