1/5. McCune Albright syndrome and hypophosphatemic rickets.A 4 year-old girl had coxa vara, tibial bowing and hyperpigmented macules. The x-ray showed polyostotic fibrous dysplasia and evidence of rickets. Biochemical investigations confirmed hyperphosphaturic hypophosphatemic rickets. The literature has been reviewed.- - - - - - - - - - ranking = 1keywords = hypophosphatemic, rickets (Clic here for more details about this article) |
2/5. Hypophosphatemic rickets accompanying McCune-Albright syndrome: evidence that a humoral factor causes hypophosphatemia.McCune-Albright syndrome (MAS) is sometimes complicated by hypophosphatemia. However, it remains unclear whether a humoral factor is associated with the cause of hypophosphatemia. We isolated cells with mutations of the Gsalpha gene from fibrous bone dysplasia tissues of two MAS patients (MAS cells). severe combined immunodeficiency (SCID) mice were subjected to experiments using from one of these cells patients. Effects of conditioned media (CM) isolated from MAS cells (MAS-CM) on phosphate transport were investigated by using rat renal slices, the renal cell line OK-B, rat intestinal rings and the human intestinal cell line Caco-2. In addition, the effects of MAS-CM on human sodium-dependent phosphate transporter (NPT2) gene promoter activity expression were investigated in the renal cell line OK-B2400 and were compared with the effects of CM isolated from a patient with oncogenic hypophosphatemic osteomalacia (OHO). MAS cells caused significant hypophosphatemia (P < 0.05) and elevated serum alkaline phosphatase activity (P < 0.05) in SCID mice. The MAS-CM significantly inhibited phosphate uptake in everted intestinal rings (P < 0.01), whereas it had no effect on glucose uptake. The MAS-CM had no effect on either phosphate uptake in the kidney or NPT2 gene promoter activity. In contrast, the CM of the OHO patient significantly inhibited phosphate uptake and NPT2 gene promoter activity. These results indicate that the humoral factor derived from fibrous dysplasia cells of the MAS patient is different to that from OHO patients, because the humoral factor from the MAS patient inhibited phosphate transport not in the kidney but in the intestine.- - - - - - - - - - ranking = 0.22852522812043keywords = hypophosphatemic, rickets (Clic here for more details about this article) |
3/5. Hypophosphatemic rickets and osteomalacia in polyostotic fibrous dysplasia.A 17 year-old girl with polyostotic fibrous dysplasia and hypophosphatemia had inappropriately low tubular reabsorption of phosphate. She had radiological evidence of rickets and osteomalacia. The patient showed clinical improvement after treatment with phosphate supplementation, active vitamin d (calcitriol) and alendronate. It is postulated that either a phosphaturic substance elaborated from the dysplastic bone or target-organ (kidney) unresponsiveness may interfere with phosphate reabsorption in the renal tubule.- - - - - - - - - - ranking = 0.050937907357915keywords = rickets (Clic here for more details about this article) |
4/5. Albright's syndrome with hypophosphatemic rickets and hyperthyroidism--a case report.In this abstract we report a case of Albright's syndrome associated with hypophosphatemic rickets and hyperthyroidism in a six-year-old girl. She had suffered from repeated fractures of her long bones owing to multiple locations of radiolucent areas and generalized skeletal demineralization. The biopsy in the lucent area revealed histologic appearance of fibrous dysplasia.- - - - - - - - - - ranking = 0.98981241852842keywords = hypophosphatemic, rickets (Clic here for more details about this article) |
5/5. The McCune-Albright syndrome.The presence of polyostotic fibrous dysplasia of bone, hyperpigmented skin macules, and precocious sexual development in children is known as the McCune-Albright syndrome. To date, a complex combination of multiple endocrinopathies including goiter, hyperthyroidism, acromegaly, cushing syndrome, hyperprolactinemia, sexual precocity, hyperparathyroidism, and hypophosphatemic hyperphosphaturic rickets have been described in association with this syndrome. Even though the pathogenetic mechanisms involved in the development of the endocrinopathies is unknown, it was assumed for many years that hypothalamic dysfunction was the cause in most cases. The overwhelming amount of data now permits the development of an alternate hypothesis; one of hyperfunctioning endocrine organs working with relative autonomy from hypothalamic control.- - - - - - - - - - ranking = 0.19796248370568keywords = hypophosphatemic, rickets (Clic here for more details about this article) |