Familial hypophosphatemic rickets in Adult
Some forms may be inherited in an autosomal dominant or recessive pattern.
Sometimes associated with benign tumors that produce a humoral factor that decreases proximal renal tubular resorption of phosphate.
Clinical presentation is variable and usually apparent after 18 months of age or when the child begins to walk. It may simply involve hypophosphatemia, or it may range from growth retardation and short stature to severe rickets or osteomalacia. The typical presentation includes a child with leg bowing and other bone deformities, pseudo-fractures, bone pain, and short stature. Rarely, a patient may present with tetany, dental enamel defects, and spine or pelvic rickets.
Treatment consists of oral phosphate supplementation and calcitriol. Adult patients with familial hypophosphatemic rickets of oncogene origin will usually improve once the tumor causing the disease is removed.
For information on X-linked dominant variety, see OMIM.
For information on autosomal dominant variety, see OMIM.
E83.30 – Disorder of phosphorus metabolism, unspecified
66266003 – Phosphopenic type rickets
- Dent disease
- Tumor-induced osteomalacia (more commonly presents in adulthood, which distinguishes this disease from the familial type)
- Hereditary hypophosphatemic rickets with hypercalciuria