Calcinosis: Difference between revisions
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The [[etiology]] of the rare condition of [[tumoral calcinosis]] is not entirely understood. It is generally characterized by large, globular calcifications near joints. | The [[etiology]] of the rare condition of [[tumoral calcinosis]] is not entirely understood. It is generally characterized by large, globular calcifications near joints. | ||
Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare autosomal recessive metabolic disorder.<ref name=Barbieri>{{ cite journal |author=Barbieri AM, Filopanti M, Bua G, Beck-Peccoz P |title=Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis |journal=J Hum Genet. |year=2007 |volume=52 |issue=5 |pages=464-8 |pmid=17351710 }}</ref> Its principal clinical features are represented by ectopic periarticular calcifications associated with elevated levels of serum phosphate.<ref name=Barbieri/> HFTC is characterized by extensive phenotypic and genetic heterogeneity.<ref name=Specktor>{{ cite journal |author=Specktor P, Cooper JG, Indelman M, Sprecher E |title=Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred |journal=J Hum Genet. |year=2006 |volume=51 |issue=5 |pages=487-90 |pmid=16528452 }}</ref> HFTC has been shown to | Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare autosomal recessive metabolic disorder.<ref name=Barbieri>{{ cite journal |author=Barbieri AM, Filopanti M, Bua G, Beck-Peccoz P |title=Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis |journal=J Hum Genet. |year=2007 |volume=52 |issue=5 |pages=464-8 |pmid=17351710 }}</ref> Its principal clinical features are represented by ectopic periarticular calcifications associated with elevated levels of serum phosphate.<ref name=Barbieri/> HFTC is characterized by extensive phenotypic and genetic heterogeneity.<ref name=Specktor>{{ cite journal |author=Specktor P, Cooper JG, Indelman M, Sprecher E |title=Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred |journal=J Hum Genet. |year=2006 |volume=51 |issue=5 |pages=487-90 |pmid=16528452 }}</ref> HFTC has been shown to result from mutations in two genes: GALNT3 and FGF23.<ref name=Specktor/> All GALNT3 mutations reported up to March 2006 were identified in patients of either Middle Eastern or African-American extraction.<ref name=Specktor/> The secretion of FGF23 requires O-glycosylation, which is selectively directed by GALNT3, to block processing of FGF23.<ref name=Kato>{{ cite journal |author=Kato K, Jeanneau C, Tarp MA, Benet-Pagès A, Lorenz-Depiereux B, Bennett EP, Mandel U, Strom TM, Clausen H |title=Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation |journal=J Biol Chem. |year=2006 |month=Jul |volume=281 |issue=27 |pages=18370-7 |pmid=16638743 }}</ref> | ||
=References= | =References= | ||
{{reflist}} | {{reflist|2}} | ||
==See also== | ==See also== | ||
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==External links== | ==External links== | ||
*[http://www.rad.washington.edu/mskbook/softtissueca.html Univ. Washington School of Medicine article on Soft Tissue Calcifications] | *[http://www.rad.washington.edu/mskbook/softtissueca.html Univ. Washington School of Medicine article on Soft Tissue Calcifications] | ||
{{disease-stub}} | {{disease-stub}} | ||
[[de:Kalzinose]] | [[de:Kalzinose]] | ||
[[es:Calcificación]] | [[es:Calcificación]] | ||
[[Category:Disease]] | |||
Latest revision as of 15:16, 4 September 2012
| Calcinosis | |
| MeSH | D002114 |
|---|---|
Calcinosis is the formation of calcium deposits in any soft tissue.
Types
Dystrophic calcification
The most common type of calcinosis is dystrophic calcification. This type of calcification can occur as a response to any soft tissue damage, including that involved in implantation of medical devices.
Metastatic calcification
Metastatic calcification involves a systemic calcium-phosphate mineral imbalance, which can be caused by renal failure, milk-alkali syndrome, or other etiologies.
Tumoral calcinosis
The etiology of the rare condition of tumoral calcinosis is not entirely understood. It is generally characterized by large, globular calcifications near joints.
Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare autosomal recessive metabolic disorder.[1] Its principal clinical features are represented by ectopic periarticular calcifications associated with elevated levels of serum phosphate.[1] HFTC is characterized by extensive phenotypic and genetic heterogeneity.[2] HFTC has been shown to result from mutations in two genes: GALNT3 and FGF23.[2] All GALNT3 mutations reported up to March 2006 were identified in patients of either Middle Eastern or African-American extraction.[2] The secretion of FGF23 requires O-glycosylation, which is selectively directed by GALNT3, to block processing of FGF23.[3]
References
- ↑ 1.0 1.1 Barbieri AM, Filopanti M, Bua G, Beck-Peccoz P (2007). "Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis". J Hum Genet. 52 (5): 464–8. PMID 17351710.
- ↑ 2.0 2.1 2.2 Specktor P, Cooper JG, Indelman M, Sprecher E (2006). "Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred". J Hum Genet. 51 (5): 487–90. PMID 16528452.
- ↑ Kato K, Jeanneau C, Tarp MA, Benet-Pagès A, Lorenz-Depiereux B, Bennett EP, Mandel U, Strom TM, Clausen H (2006). "Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation". J Biol Chem. 281 (27): 18370–7. PMID 16638743. Unknown parameter
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