High iFGF23 level despite hypophosphatemia is one of the clinical indicators to make diagnosis of XLH

X-linked hypophosphatemic rickets (XLH) is caused by inactivating mutations in the phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX) gene. Deletion of Phex leads to increased serum fibroblast growth factor23 (FGF23) levels in mouse. The aim is to assure the clini...

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Veröffentlicht in:	Endocrine Journal 2011, Vol.58(8), pp.647-655
Hauptverfasser:	Igaki, Junko Miyamoto, Yamada, Makoto, Yamazaki, Yuji, Koto, Shinobu, Izawa, Masako, Ariyasu, Daisuke, Suzuki, Eri, Hasegawa, Hisashi, Hasegawa, Yukihiro
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Biomarkers - blood Case-Control Studies Child Child, Preschool Diagnosis, Differential Familial Hypophosphatemic Rickets - blood Familial Hypophosphatemic Rickets - diagnosis Familial Hypophosphatemic Rickets - genetics Female FGF23 Fibroblast Growth Factors - blood Fibroblast Growth Factors - physiology Genetic Diseases, X-Linked Humans Hypophosphatemia - blood Hypophosphatemia - diagnosis Hypophosphatemia - genetics Infant Male Osmolar Concentration PHEX mutation PHEX Phosphate Regulating Neutral Endopeptidase - genetics Phosphate loading Prognosis Reference range X-linked hypophosphatemic rickets (XLH) Young Adult
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