Autosomal recessive hypophosphatemic vitamin D refractory rickets is a genetic condition caused by a change in the dentin matrix protein 1 (DMP1) or ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene.
Genes are what control the growth, development, and function of the body. If a change (mutation) occurs, the gene may not work properly. Each person has two copies of every gene, one from each parent. This condition is passed down from parent to child in an autosomal recessive manner, which means one mutation from each parent is inherited by a child in order to cause symptoms. A person with only one mutation is called a carrier because they “carry” one changed and one unchanged copy of the gene. Carriers show no signs or symptoms of the condition.
Autosomal recessive hypophosphatemic vitamin D refractory rickets is a disorder that causes bones to be soft or weak. This is often associated with a vitamin D deficiency. This can occur at any age, but typically begins in early childhood. The symptoms of this condition include delayed growth, short stature (height), pain in the pelvis, legs, or spine, and marked weakness. The softening of the bones can also lead to bowed legs, thickened wrists and ankles, and breastbone projection (pectus carinatum). These symptoms can vary widely from one person to another, especially depending on how severe the condition is.
Treatment for autosomal recessive hypophosphatemic vitamin D refractory rickets can include vitamin D and phosphate supplements to help bone strength. This must be monitored to ensure there is not too much calcium in the body. If you or a family member has been diagnosed with autosomal recessive hypophosphatemic vitamin D refractory rickets, talk with your doctor about the most current treatment options as well as signs that you may need immediate medical attention. Support groups are also good sources for support and information.