Hypophosphatemia: mouse model for human familial hypophosphatemic (vitamin D-resistant) rickets.
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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...
متن کاملFamilial 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 ...
متن کاملMetabolism of vitamin D3-3H in vitamin D-resistant rickets and familial hypophosphatemia.
The fate of an intravenous dose of tritiated vitamin D(3) was studied in seven normal subjects, four children with vitamin D-resistant rickets, and four adults with a familial history of vitamin D-resistant rickets and persistent hypophosphatemia. An abnormal metabolism of vitamin D in vitamin D-resistant rickets was defined and characterized by a decrease in the plasma fractional turnover rate...
متن کاملSerum 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...
متن کاملOsteoblast 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...
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ژورنال
عنوان ژورنال: Proceedings of the National Academy of Sciences
سال: 1976
ISSN: 0027-8424,1091-6490
DOI: 10.1073/pnas.73.12.4667