Familial Hypophosphatemia ( Familial X-Linked Hypophosphatemic Rickets ; Vitamin D–Resistant Rickets ; Refractory Rickets ) Familial hypophosphatemic rickets is a genetic disease that is transmitted as an X-linked dominant trait and is usually manifested by the second year of life. The disease is thought to be caused by mutation in the gene …
3/1/2016 · Hypophosphatemic rickets (previously called vitamin D-resistant rickets ) is a disorder in which the bones become painfully soft and bend easily, due to low levels of phosphate in the blood. Symptoms usually begin in early childhood and can range in severity. Severe forms may cause bowing of the legs and other bone deformities; bone pain; joint pain; poor bone growth; and short stature.
Hereditary resistance to vitamin D ( vitamin D dependent rickets , type II) may present in an identical manner. This is a rare autosomal recessive disorder that is caused by mutations in an important protein in the body called the vitamin D receptor (VDR), which is required for vitamin D to work properly.
Survey of all available data of infants with familial hypophosphatemia vitamin D resistant rickets observed partially or throughout the first year of life indicates that hypophosphatemia begins in th…
Hereditary hypophosphatemic rickets is a disorder related to low levels of phosphate in the blood (hypophosphatemia). Phosphate is a mineral that is essential for the normal formation of bones and teeth.In most cases, the signs and symptoms of hereditary hypophosphatemic rickets begin in early childhood. Explore symptoms, inheritance, genetics of this condition.
Hypophosphatemic rickets, Hypophosphatemic rickets, Familial Hypophosphatemia – NORD (National Organization …
Hypophosphatemic rickets
