Autosomal-dominant hypophosphatemic rickets (ADHR) mutations stabilize FGF-23
نویسندگان
چکیده
منابع مشابه
Iron deficiency drives an autosomal dominant hypophosphatemic rickets (ADHR) phenotype in fibroblast growth factor-23 (Fgf23) knock-in mice.
Autosomal dominant hypophosphatemic rickets (ADHR) is unique among the disorders involving Fibroblast growth factor 23 (FGF23) because individuals with R176Q/W and R179Q/W mutations in the FGF23 (176)RXXR(179)/S(180) proteolytic cleavage motif can cycle from unaffected status to delayed onset of disease. This onset may occur in physiological states associated with iron deficiency, including pub...
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Autosomal dominant hypophosphatemic rickets (ADHR) is an inherited disorder of isolated renal phosphate wasting, the pathogenesis of which is unknown. We performed a genome-wide linkage study in a large kindred to determine the chromosome location of the ADHR gene. Two-point LOD scores indicate that the gene is linked to the markers D12S314 [Z(theta) = 3.15 at theta = 0.0], vWf [Z(theta) = 5.32...
متن کاملHip fracture leading to the diagnosis of autosomal dominant hypophosphatemic rickets. A case report.
A 38 year-old Caucasian female (weight: 67 Kg, height: 163 cm) was referred to our department after surgical treatment of a non-healing hip fracture, due to severe hypophosphatemia. During the previous ten months she suffered from worsening generalized bone pain, especially at the left hip, and proximal muscle weakness. There was no history of trauma. Past history revealed two distinct episodes...
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FGF-23, a novel member of the FGF family, is the product of the gene mutated in autosomal dominant hypophosphatemic rickets (ADHR). FGF-23 has been proposed as a circulating factor causing renal phosphate wasting not only in ADHR (as a result of inadequate degradation), but also in tumor-induced osteomalacia (as a result of excess synthesis by tumor cells). Renal phosphate wasting occurs in app...
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Fibroblast growth factor 23 (FGF23) is a circulating factor that plays a central role in the renal reabsorption of Pi and metabolism of vitamin D. It is mainly produced by osteocytes in bone and exerts its effects on distant organs such as the kidney and parathyroid in an endocrine fashion. FGF23 increases renal Pi excretion by reducing the expression of type 2a and 2c sodium/phosphate (Na/Pi) ...
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ژورنال
عنوان ژورنال: Kidney International
سال: 2001
ISSN: 0085-2538
DOI: 10.1046/j.1523-1755.2001.00064.x