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/> | 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 be 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/> | ||
=References= | =References= | ||
Revision as of 19:32, 10 May 2009
| 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 be 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]
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.