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Calcified Tissue International
Published in: Calcified Tissue International 1/2021

01-01-2021 | Hypoparathyroidism | Review

Congenital Hyperphosphatemic Conditions Caused by the Deficient Activity of FGF23

Authors: Nobuaki Ito, Seiji Fukumoto

Published in: Calcified Tissue International | Issue 1/2021

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Abstract

Congenital diseases that could result in hyperphosphatemia at an early age include hyperphosphatemic familial tumoral calcinosis (HFTC)/hyperostosis-hyperphosphatemia syndrome (HHS) and congenital hypoparathyroidism/pseudohypoparathyroidism due to the insufficient activity of fibroblast growth factor (FGF) 23 and parathyroid hormone. HFTC/HHS is a rare autosomal recessive disease caused by inactivating mutations in the FGF23, UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GALNT3), or Klotho (KL) genes, resulting in the excessive cleavage of active intact FGF23 (FGF23, GALNT3) or increased resistance to the action of FGF23 (KL). Massive ectopic calcification, known as tumoral calcinosis (TC), is seen in periarticular soft tissues, typically in the hip, elbow, and shoulder in HFTC/HHS, reducing the range of motion. However, other regions, such as the eye, intestine, vasculature, and testis, are also targets of ectopic calcification. The other symptoms of HFTC/HHS are painful hyperostosis of the lower legs, dental abnormalities, and systemic inflammation. Low phosphate diets, phosphate binders, and phosphaturic reagents such as acetazolamide are the treatment options for HFTC/HHS and have various consequences, which warrant the development of novel therapeutics involving recombinant FGF23.
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Metadata
Title
Congenital Hyperphosphatemic Conditions Caused by the Deficient Activity of FGF23
Authors
Nobuaki Ito
Seiji Fukumoto
Publication date
01-01-2021
Publisher
Springer US
Published in
Calcified Tissue International / Issue 1/2021
Print ISSN: 0171-967X
Electronic ISSN: 1432-0827
DOI
https://doi.org/10.1007/s00223-020-00659-6

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