Hyperphosphatemia with low FGF7 and normal FGF23 and sFRP4 levels in the circulation characterizes pediatric hypophosphatasia

• Published in: Bone (New York, N.Y.) Vol. 134; p. 115300
• Main Authors: Whyte, Michael P., Zhang, Fan, Wenkert, Deborah, Mumm, Steven, Berndt, Theresa J., Kumar, Rajiv
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.05.2020
• Subjects: Adult; Alkaline Phosphatase; ALPL; Animals; Asfotase alfa; Bisphosphonate; Child; Etidronate; Fibroblast Growth Factor 7; Fibroblast Growth Factor-23; Fibroblast Growth Factors; GACI; Generalized arterial calcification of infancy; Humans; Hydroxyapatite; Hyperphosphatemia; Hypophosphatasia - complications; Hypophosphatemia; Inborn-error-of-metabolism; Inorganic pyrophosphate; PHEX; Phosphatonin; Prospective Studies; Proto-Oncogene Proteins; Pseudoxanthoma elasticum; Rats; Rickets; TmP/GFR; X-linked hypophosphatemia; Alkaline phosphatase; GACI; Phosphatonin; Bisphosphonate; Hydroxyapatite; Inborn-error-of-metabolism; PHEX; Generalized arterial calcification of infancy; TmP/GFR; Rickets; X-linked hypophosphatemia; Asfotase alfa; ALPL; Hypophosphatemia; Inorganic pyrophosphate; Pseudoxanthoma elasticum; Etidronate

Hypophosphatasia (HPP) is the inborn-error-of-metabolism caused by loss-of-function mutation(s) of the ALPL gene that encodes the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). TNSALP in healthy individuals is on cell surfaces richly in bone, liver, and kidney. Thus, TNSALP natural s...