Early Detection of Infants with Hypophosphatemic Vitamin D Resistant Rickets (HDRR).

Serum parathyroid hormone in hypophosphatemic vitamin D-resistant rickets.

Serum parathyroid hormone (PTH) was measured in five children with untreated, active hypophosphatemic vitamin D-resistant rickets be[ore, during, and after an in[usion o[ calcium. During the calcium in[usion, serum PTH decreased while the tubular resorption of phosphate increased. Although these data clearly indicate that some degree o[ hyperparathyroidism accompanies the disease, it is apparen...

Familial Vitamin D-resistant Rickets

Rickets which is refractory to ordinary doses of vitamin D was first recognized when vitamin preparations of high potency became available (Albright, Butler and Bloomberg, 1937). As an isolated metabolic disorder it is commonly known as 'vitamin D-resistant rickets', also as 'phosphate diabetes' (Fanconi, 1936a, b) and phosphate losing(or renal tubular) rickets, type I (Dent, 1952). Whereas it ...

Osteoblast Cultures: A Valuable Tool for the Study of Hypophosphatemic Vitamin D- Resistant Rickets

Bone matrix formation and mineralization is a complex process which is under the control of the osteoblasts and nearby osteoid osteocytes. Impaired bone mineralization (osteomalacia) can result from alterations in the bone cell environment and/ or from abnormalities in the function of the bone-forming cells. Because of the methods available, most identified forms of osteomalacia have been relat...

Hypophosphatemia: mouse model for human familial hypophosphatemic (vitamin D-resistant) rickets.

A new dominant mutation in the laboratory mouse, hypophosphatemia (gene symbol Hyp), has been identified. The Hyp gene is located on the X-chromosome and maps at the distal end. Mutant mice are characterized by hypophosphatemia, bone changes resembling rickets, diminished bone ash, dwarfism, and high fractional excretion of phosphate anion (low net tubular reabsorption). Phosphate supplementati...

Hypophosphatemic rickets with hypercalciuria.