familial hypophosphatemia
Quick Summary
Familial hypophosphatemia is a hereditary disorder that causes a reduction in phosphate levels in the blood. This disruption affects the body's energy metabolism and oxygen delivery to tissues. It is a primary cause of rickets in developed countries.1
The condition results from a metabolic defect leading to excessive phosphate loss through the kidneys. This low blood phosphate level hinders the deposition of calcium phosphate in bones, which is essential for bone rigidity. In children, this manifests as the characteristic curved and stunted bones of rickets. Treatment involves addressing the underlying metabolic issue and supplementing with phosphate.1
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bone diseaseMetabolic bone disease…a hereditary disorder known as familial hypophosphatemia; the phosphate leak causes low concentration of blood phosphate and, in turn, deficient mineralization of bone tissue, rickets, and osteomalacia. Familial hypophosphatemia is the most common cause of rickets in Europe and the United States. The basic deficiency is treated with high oral…
Read More…a hereditary disorder known as familial hypophosphatemia; the phosphate leak causes low concentration of blood phosphate and, in turn, deficient mineralization of bone tissue, rickets, and osteomalacia. Familial hypophosphatemia is the most common cause of rickets in Europe and the United States. The basic deficiency is treated with high oral…
Read More- bone diseaseInherited disorders
…the skeleton are distinct from familial hypophosphatemia, a condition characterized by low phosphate levels in the blood; it affects the kidney primarily and the skeleton only secondarily. Hemophilia, finally, is a generalized hereditary condition that affects the skeletal system only secondarily by bleeding in the bones and joints.
Read More…the skeleton are distinct from familial hypophosphatemia, a condition characterized by low phosphate levels in the blood; it affects the kidney primarily and the skeleton only secondarily. Hemophilia, finally, is a generalized hereditary condition that affects the skeletal system only secondarily by bleeding in the bones and joints.
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