Vitamin D resistant rickets, also known as hereditary vitamin D resistant rickets (HVDRR), is a rare genetic disorder characterized by an impaired ability of the body to respond to the action of vitamin D. This condition mainly affects the bones, leading to skeletal abnormalities and a softening of the bones, known as rickets.
Rickets is typically caused by a deficiency of vitamin D, which is necessary for proper bone growth and development. However, in the case of vitamin D resistant rickets, individuals have normal or even elevated levels of vitamin D, but their bodies cannot effectively utilize it. This is due to a mutation in the vitamin D receptor (VDR) gene, which is responsible for mediating the effects of vitamin D in the body's cells.
Symptoms of vitamin D resistant rickets may include delayed growth and development, bone pain and tenderness, skeletal deformities such as bowed legs or spinal curvature, dental problems, and muscle weakness. The severity of symptoms can vary among individuals.
Treatment of vitamin D resistant rickets typically involves high-dose vitamin D supplementation in order to compensate for the body's decreased ability to use this vitamin. However, complete resolution of symptoms may not always be achieved. Additional interventions such as orthopedic surgeries or dental procedures might be necessary to correct skeletal or dental abnormalities.
It is important to note that vitamin D resistant rickets is a hereditary disorder and, therefore, has a genetic basis. It is inherited in an autosomal recessive manner, meaning that affected individuals must inherit two abnormal copies of the VDR gene, one from each parent, in order to develop the condition. Genetic counseling may be beneficial for individuals or families affected by vitamin D resistant rickets.
