Update on X-linked Hypophosphatemia
Rickets and osteomalacia are associated with impaired mineralization in growth plate cartilage and the bone osteoid. Vitamin D deficiency has been one of the major causes for rickets and osteomalacia. In addition, it has been also known that there are diseases called vitamin D-resistant rickets/oste...
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MDPI - Multidisciplinary Digital Publishing Institute
2024
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| description | Rickets and osteomalacia are associated with impaired mineralization in growth plate cartilage and the bone osteoid. Vitamin D deficiency has been one of the major causes for rickets and osteomalacia. In addition, it has been also known that there are diseases called vitamin D-resistant rickets/osteomalacia which cannot be cured by native vitamin D. Since the cloning of FGF23 in 2000, it has become clear that most cases of vitamin D-resistant rickets/osteomalacia are caused by excessive actions of FGF23. X-linked hypophosphatemia (XLH) is the most common cause of inherited FGF23-reltated hypophosphatemic rickets. Patients with XLH suffer from life-long morbidity of bone, cartilage, ligament, joint, tooth and muscle which significantly affects quality of life. Since FGF23 was shown to be the humoral factor causing hypophosphatemia in patients with XLH, anti-FGF23 antibody that blocks the actions of FGF23 has been developed and become clinically available in several countries. The introduction of this new drug together with advanced knowledge concerning physiological and pathophysiological significance of FGF23 has further stimulated research and promoted dissemination of fruits of the studies in this field. From these backgrounds, a variety of both basic and clinical topics concerning XLH are covered in this special issue to provide up-to-date summaries of the current understanding. |
| format | Online |
| id | doab-20.500.12854ir-137459 |
| institution | Directory of Open Access Books |
| language | eng |
| publishDate | 2024 |
| publishDateRange | 2024 |
| publishDateSort | 2024 |
| publisher | MDPI - Multidisciplinary Digital Publishing Institute |
| publisherStr | MDPI - Multidisciplinary Digital Publishing Institute |
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| spelling | doab-20.500.12854ir-1374592024-05-14T13:09:19Z Update on X-linked Hypophosphatemia Hasegawa, Yukihiro Fukumoto, Seiji phosphate fibroblast growth factor 23 osteocytes rickets osteomalacia X-linked hypophosphatemia enthesopathy secondary hyperparathyroidism tertiary hyperparathyroidism chronic kidney disease oral disease quality of life burosumab transition team management transfer deformity correction mechanical axis X-linked hypophosphatemic rickets phosphate-regulating endopeptidase homolog X-linked genotype–phenotype correlation multiplex ligation-dependent probe amplification nonsense-mediated decay cryptic splice site mosaicism zinc-binding site truncating variant phosphorus active form of Vitamin D renal calcification fibroblast growth factor 23 (FGF23) FGF23 hypophosphatemic rickets XLH dentin dysplasia pulp infection periapical abscess medical and dental collaboration matrix vesicle mineralization bone endochondral ossification osteoblast X-linked hypophosphatemic rickets/osteomalacia conventional treatment adherence PHEX QOL lower leg deformities growth impairment TmP/GFR Rickets Severity Score phosphate transporter SLC34 Tmem174 kidney n/a thema EDItEUR::M Medicine and Nursing Rickets and osteomalacia are associated with impaired mineralization in growth plate cartilage and the bone osteoid. Vitamin D deficiency has been one of the major causes for rickets and osteomalacia. In addition, it has been also known that there are diseases called vitamin D-resistant rickets/osteomalacia which cannot be cured by native vitamin D. Since the cloning of FGF23 in 2000, it has become clear that most cases of vitamin D-resistant rickets/osteomalacia are caused by excessive actions of FGF23. X-linked hypophosphatemia (XLH) is the most common cause of inherited FGF23-reltated hypophosphatemic rickets. Patients with XLH suffer from life-long morbidity of bone, cartilage, ligament, joint, tooth and muscle which significantly affects quality of life. Since FGF23 was shown to be the humoral factor causing hypophosphatemia in patients with XLH, anti-FGF23 antibody that blocks the actions of FGF23 has been developed and become clinically available in several countries. The introduction of this new drug together with advanced knowledge concerning physiological and pathophysiological significance of FGF23 has further stimulated research and promoted dissemination of fruits of the studies in this field. From these backgrounds, a variety of both basic and clinical topics concerning XLH are covered in this special issue to provide up-to-date summaries of the current understanding. 2024-05-14T13:09:15Z 2024-05-14T13:09:15Z 2024 book ONIX_20240514_9783036596860_61 9783036596860 9783036596877 https://directory.doabooks.org/handle/20.500.12854/137459 eng application/octet-stream Attribution-NonCommercial-NoDerivatives 4.0 International https://mdpi.com/books/pdfview/book/8614 https://mdpi.com/books/pdfview/book/8614 MDPI - Multidisciplinary Digital Publishing Institute 10.3390/books978-3-0365-9687-7 10.3390/books978-3-0365-9687-7 46cabcaa-dd94-4bfe-87b4-55023c1b36d0 9783036596860 9783036596877 146 open access |
| spellingShingle | phosphate fibroblast growth factor 23 osteocytes rickets osteomalacia X-linked hypophosphatemia enthesopathy secondary hyperparathyroidism tertiary hyperparathyroidism chronic kidney disease oral disease quality of life burosumab transition team management transfer deformity correction mechanical axis X-linked hypophosphatemic rickets phosphate-regulating endopeptidase homolog X-linked genotype–phenotype correlation multiplex ligation-dependent probe amplification nonsense-mediated decay cryptic splice site mosaicism zinc-binding site truncating variant phosphorus active form of Vitamin D renal calcification fibroblast growth factor 23 (FGF23) FGF23 hypophosphatemic rickets XLH dentin dysplasia pulp infection periapical abscess medical and dental collaboration matrix vesicle mineralization bone endochondral ossification osteoblast X-linked hypophosphatemic rickets/osteomalacia conventional treatment adherence PHEX QOL lower leg deformities growth impairment TmP/GFR Rickets Severity Score phosphate transporter SLC34 Tmem174 kidney n/a thema EDItEUR::M Medicine and Nursing Update on X-linked Hypophosphatemia |
| title | Update on X-linked Hypophosphatemia |
| title_full | Update on X-linked Hypophosphatemia |
| title_fullStr | Update on X-linked Hypophosphatemia |
| title_full_unstemmed | Update on X-linked Hypophosphatemia |
| title_short | Update on X-linked Hypophosphatemia |
| title_sort | update on x linked hypophosphatemia |
| topic | phosphate fibroblast growth factor 23 osteocytes rickets osteomalacia X-linked hypophosphatemia enthesopathy secondary hyperparathyroidism tertiary hyperparathyroidism chronic kidney disease oral disease quality of life burosumab transition team management transfer deformity correction mechanical axis X-linked hypophosphatemic rickets phosphate-regulating endopeptidase homolog X-linked genotype–phenotype correlation multiplex ligation-dependent probe amplification nonsense-mediated decay cryptic splice site mosaicism zinc-binding site truncating variant phosphorus active form of Vitamin D renal calcification fibroblast growth factor 23 (FGF23) FGF23 hypophosphatemic rickets XLH dentin dysplasia pulp infection periapical abscess medical and dental collaboration matrix vesicle mineralization bone endochondral ossification osteoblast X-linked hypophosphatemic rickets/osteomalacia conventional treatment adherence PHEX QOL lower leg deformities growth impairment TmP/GFR Rickets Severity Score phosphate transporter SLC34 Tmem174 kidney n/a thema EDItEUR::M Medicine and Nursing |
| topic_facet | phosphate fibroblast growth factor 23 osteocytes rickets osteomalacia X-linked hypophosphatemia enthesopathy secondary hyperparathyroidism tertiary hyperparathyroidism chronic kidney disease oral disease quality of life burosumab transition team management transfer deformity correction mechanical axis X-linked hypophosphatemic rickets phosphate-regulating endopeptidase homolog X-linked genotype–phenotype correlation multiplex ligation-dependent probe amplification nonsense-mediated decay cryptic splice site mosaicism zinc-binding site truncating variant phosphorus active form of Vitamin D renal calcification fibroblast growth factor 23 (FGF23) FGF23 hypophosphatemic rickets XLH dentin dysplasia pulp infection periapical abscess medical and dental collaboration matrix vesicle mineralization bone endochondral ossification osteoblast X-linked hypophosphatemic rickets/osteomalacia conventional treatment adherence PHEX QOL lower leg deformities growth impairment TmP/GFR Rickets Severity Score phosphate transporter SLC34 Tmem174 kidney n/a thema EDItEUR::M Medicine and Nursing |
| url | ONIX_20240514_9783036596860_61 |