Fabry's disease historical perspective: Difference between revisions
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==Historical Perspective== | ==Historical Perspective== | ||
[[Fabry's disease]] was named after Johannes Fabry and William Anderson in 1981. They described the initial findings of [[angiokeratoma]], the skin manifestation of [[Fabry's disease]].<ref name="pmid26564084">{{cite journal |vauthors=Schiffmann R |title=Fabry disease |journal=Handb Clin Neurol |volume=132 |issue= |pages=231–48 |date=2015 |pmid=26564084 |doi=10.1016/B978-0-444-62702-5.00017-2 |url=}}</ref> | |||
=== Discovery === | === Discovery === | ||
*In 1878 Cottle first described in the St George Hospital Reports about angiokeratoma- dermatological manifestations of Fabry's disease. | *In 1878 Cottle first described in the St George Hospital Reports about [[angiokeratoma]]- [[dermatological]] manifestations of [[Fabry's disease]].<ref name="pmid32473807">{{cite journal| author=Al-Zainal MH, Anvery S, Al-Jewair T| title=Clear Aligner Therapy May Not Prevent But May Decrease the Incidence of External Root Resorption Compared to Full Fixed Appliances. | journal=J Evid Based Dent Pract | year= 2020 | volume= 20 | issue= 2 | pages= 101438 | pmid=32473807 | doi=10.1016/j.jebdp.2020.101438 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=32473807 }} </ref> | ||
*In 1952 it was recognized that Fabry's disease is due to abnormal storage of glycolipids in blood vessels and other organs. | *In 1952 it was recognized that [[Fabry's disease]] is due to abnormal storage of [[glycolipids]] in [[blood vessels]] and other [[organs]]. | ||
*In 1960 it was established that Fabry's disease is an X- linked disease due to deficiency of alpha-galactosidase. | *In 1960 it was established that [[Fabry's disease]] is an [[X linked inheritance|X- linked disease]] due to deficiency of [[alpha-galactosidase]]. | ||
*In 1985 Crocker mentioned about angiokeratoma in "Diseases of the Skin" | *In 1985 Crocker mentioned about [[angiokeratoma]] in "Diseases of the Skin".<ref name="pmid32473807">{{cite journal| author=Al-Zainal MH, Anvery S, Al-Jewair T| title=Clear Aligner Therapy May Not Prevent But May Decrease the Incidence of External Root Resorption Compared to Full Fixed Appliances. | journal=J Evid Based Dent Pract | year= 2020 | volume= 20 | issue= 2 | pages= 101438 | pmid=32473807 | doi=10.1016/j.jebdp.2020.101438 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=32473807 }} </ref> | ||
*In 1986 and 1989 Colcott Fox published more cases with | *In 1986 and 1989 Colcott Fox published more cases with [[angiokeratoma]].<ref name="pmid32473807">{{cite journal| author=Al-Zainal MH, Anvery S, Al-Jewair T| title=Clear Aligner Therapy May Not Prevent But May Decrease the Incidence of External Root Resorption Compared to Full Fixed Appliances. | journal=J Evid Based Dent Pract | year= 2020 | volume= 20 | issue= 2 | pages= 101438 | pmid=32473807 | doi=10.1016/j.jebdp.2020.101438 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=32473807 }} </ref> | ||
*In 1965 Ken Hashimoto published electron microscopic findings. | *In 1965 Ken Hashimoto published [[Electron microscope|electron microscopic]] findings.<ref name="pmid21290707">{{cite journal |vauthors=Mehta A, Beck M, Sunder-Plassmann G, Mehta A, Beck M, Linhart A, Sunder-Plassmann G, Widmer U |title= |journal= |volume= |issue= |pages= |date= |pmid=21290707 |doi= |url=}}</ref> | ||
*In 2003 | *In 2003 specific treatment for [[Fabry's disease]] [[Fabrazyme]] was introduced.<ref name="pmid30017653">{{cite journal| author=Wanner C, Arad M, Baron R, Burlina A, Elliott PM, Feldt-Rasmussen U | display-authors=etal| title=European expert consensus statement on therapeutic goals in Fabry disease. | journal=Mol Genet Metab | year= 2018 | volume= 124 | issue= 3 | pages= 189-203 | pmid=30017653 | doi=10.1016/j.ymgme.2018.06.004 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=30017653 }} </ref> | ||
==References== | ==References== | ||
Revision as of 15:14, 22 July 2020
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Neepa Shah, M.B.B.S.[2]
Historical Perspective
Fabry's disease was named after Johannes Fabry and William Anderson in 1981. They described the initial findings of angiokeratoma, the skin manifestation of Fabry's disease.[1]
Discovery
- In 1878 Cottle first described in the St George Hospital Reports about angiokeratoma- dermatological manifestations of Fabry's disease.[2]
- In 1952 it was recognized that Fabry's disease is due to abnormal storage of glycolipids in blood vessels and other organs.
- In 1960 it was established that Fabry's disease is an X- linked disease due to deficiency of alpha-galactosidase.
- In 1985 Crocker mentioned about angiokeratoma in "Diseases of the Skin".[2]
- In 1986 and 1989 Colcott Fox published more cases with angiokeratoma.[2]
- In 1965 Ken Hashimoto published electron microscopic findings.[3]
- In 2003 specific treatment for Fabry's disease Fabrazyme was introduced.[4]
References
- ↑ Schiffmann R (2015). "Fabry disease". Handb Clin Neurol. 132: 231–48. doi:10.1016/B978-0-444-62702-5.00017-2. PMID 26564084.
- ↑ 2.0 2.1 2.2 Al-Zainal MH, Anvery S, Al-Jewair T (2020). "Clear Aligner Therapy May Not Prevent But May Decrease the Incidence of External Root Resorption Compared to Full Fixed Appliances". J Evid Based Dent Pract. 20 (2): 101438. doi:10.1016/j.jebdp.2020.101438. PMID 32473807 Check
|pmid=value (help). - ↑ Mehta A, Beck M, Sunder-Plassmann G, Mehta A, Beck M, Linhart A, Sunder-Plassmann G, Widmer U. PMID 21290707. Missing or empty
|title=(help) - ↑ Wanner C, Arad M, Baron R, Burlina A, Elliott PM, Feldt-Rasmussen U; et al. (2018). "European expert consensus statement on therapeutic goals in Fabry disease". Mol Genet Metab. 124 (3): 189–203. doi:10.1016/j.ymgme.2018.06.004. PMID 30017653.