Name some inherited disorders leading to hypophosphatemia
belongs to book: CLINICAL CASES IN ENDOCRINOLOGY|Pramila Kalra|| Chapter number:19| Question number:1.9
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belongs to book: CLINICAL CASES IN ENDOCRINOLOGY|Pramila Kalra|| Chapter number:19| Question number:1.9
total answers (1)
• X-linked hypophosphatemia (XLH) is an X-linked dominant disorder caused by loss of function of the phosphate-regulating gene with homology to endopeptidases located on the X-chromosome (PHEX), associated with elevation of FGF23.
• Autosomal recessive forms of hypophosphatemic rickets are caused by inactivating mutations in dentin matrix protein 1 (DMP1) and ectonucleotide pyrophosphatase/phosphodiesterase1 (ENPP1), also associated with excess fibroblast growth factor 23 (FGF23).
• Autosomal dominant hypophosphatemic rickets (ADHR) due to mutations in FGF23 gene.
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