vitamin D-dependent rickets type II
Quick Summary
Vitamin D-dependent rickets type II (VDDRII) is a rare, inherited disorder characterized by the body's inability to absorb calcitriol, the active form of vitamin D. This occurs due to loss-of-function mutations in the gene for the vitamin D receptor.1
The pathology of VDDRII leads to rickets, a condition where bones soften and grow abnormally due to poor mineralization. Symptoms can include hypocalcemia (low serum calcium levels) and, in some cases, alopecia (baldness). VDDRII is an autosomal recessive disorder, meaning two copies of the mutated gene are required for the disease to manifest, and it typically appears in infancy or early childhood.1
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