Abstract
Familial tumoral calcinosis (TC) is a rare disorder distinguished by the development of ectopic and vascular calcified masses that occur in settings of hyperphosphatemia (hFTC) and normophosphatemia (nFTC). Serum phosphorus concentrations are relatively tightly controlled by interconnected endocrine activity at the level of the intestine, kidney, and skeleton. Discovering the molecular causes for heritable forms of hFTC has shed new light on the regulation of serum phosphate balance. This review will focus upon the genetic basis and clinical approaches for hFTC, due to genes that are related to the phosphaturic hormone fibroblast growth factor-23 (FGF23). These include FGF23 itself, an FGF23-glycosylating enzyme (GALNT3), and the FGF23 co-receptor α-Klotho (αKL). Our understanding of the molecular basis of hFTC will, in the short term, aid in understanding normal phosphate balance, and in the future, provide potential insight into the design of novel therapeutic strategies for both rare and common disorders of phosphate metabolism.
Original language | English |
---|---|
Pages (from-to) | 735-747 |
Number of pages | 13 |
Journal | Best Practice and Research: Clinical Rheumatology |
Volume | 25 |
Issue number | 5 |
DOIs | |
State | Published - Oct 2011 |
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Keywords
- α-Klotho
- FGF-23
- FGF23
- GALNT3
- HHS
- Hyperphosphatemia
- Phosphate
- Tumoral calcinosis
ASJC Scopus subject areas
- Rheumatology
- Medicine(all)
Cite this
Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and αklotho). / Farrow, Emily G.; Imel, Erik; White, Kenneth.
In: Best Practice and Research: Clinical Rheumatology, Vol. 25, No. 5, 10.2011, p. 735-747.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and αklotho)
AU - Farrow, Emily G.
AU - Imel, Erik
AU - White, Kenneth
PY - 2011/10
Y1 - 2011/10
N2 - Familial tumoral calcinosis (TC) is a rare disorder distinguished by the development of ectopic and vascular calcified masses that occur in settings of hyperphosphatemia (hFTC) and normophosphatemia (nFTC). Serum phosphorus concentrations are relatively tightly controlled by interconnected endocrine activity at the level of the intestine, kidney, and skeleton. Discovering the molecular causes for heritable forms of hFTC has shed new light on the regulation of serum phosphate balance. This review will focus upon the genetic basis and clinical approaches for hFTC, due to genes that are related to the phosphaturic hormone fibroblast growth factor-23 (FGF23). These include FGF23 itself, an FGF23-glycosylating enzyme (GALNT3), and the FGF23 co-receptor α-Klotho (αKL). Our understanding of the molecular basis of hFTC will, in the short term, aid in understanding normal phosphate balance, and in the future, provide potential insight into the design of novel therapeutic strategies for both rare and common disorders of phosphate metabolism.
AB - Familial tumoral calcinosis (TC) is a rare disorder distinguished by the development of ectopic and vascular calcified masses that occur in settings of hyperphosphatemia (hFTC) and normophosphatemia (nFTC). Serum phosphorus concentrations are relatively tightly controlled by interconnected endocrine activity at the level of the intestine, kidney, and skeleton. Discovering the molecular causes for heritable forms of hFTC has shed new light on the regulation of serum phosphate balance. This review will focus upon the genetic basis and clinical approaches for hFTC, due to genes that are related to the phosphaturic hormone fibroblast growth factor-23 (FGF23). These include FGF23 itself, an FGF23-glycosylating enzyme (GALNT3), and the FGF23 co-receptor α-Klotho (αKL). Our understanding of the molecular basis of hFTC will, in the short term, aid in understanding normal phosphate balance, and in the future, provide potential insight into the design of novel therapeutic strategies for both rare and common disorders of phosphate metabolism.
KW - α-Klotho
KW - FGF-23
KW - FGF23
KW - GALNT3
KW - HHS
KW - Hyperphosphatemia
KW - Phosphate
KW - Tumoral calcinosis
UR - http://www.scopus.com/inward/record.url?scp=82955178697&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=82955178697&partnerID=8YFLogxK
U2 - 10.1016/j.berh.2011.10.020
DO - 10.1016/j.berh.2011.10.020
M3 - Article
C2 - 22142751
AN - SCOPUS:82955178697
VL - 25
SP - 735
EP - 747
JO - Best Practice and Research in Clinical Rheumatology
JF - Best Practice and Research in Clinical Rheumatology
SN - 1521-6942
IS - 5
ER -