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{{Fabry's disease}} | {{Fabry's disease}} | ||
{{CMG}} | {{CMG}} {{Neepa Shah}} | ||
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==Historical Perspective== | ==Historical Perspective== | ||
It was named after Johannes Fabry.<ref>{{WhoNamedIt|synd|1761}}</ref> | It was named after Johannes Fabry and William Anderson in 1981. | ||
=== Discovery === | |||
*In 1878 Cottle first described in the St George Hospital Reports about angiokeratoma- dermatological manifestations of Fabry's disease. | |||
*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" | |||
*In 1986 and 1989 Colcott Fox published more cases with angiokeratomas. | |||
*In 1965 Ken Hashimoto published electron microscopic findings. [33][34] | |||
*In 2001 Specific treatment for Fabry's disease was introduced.{19}{22} | |||
<ref>{{WhoNamedIt|synd|1761}}</ref>. | |||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
[[Category: | [[Category:Pediatrics]] | ||
Revision as of 14:25, 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]
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Historical Perspective
It was named after Johannes Fabry and William Anderson in 1981.
Discovery
- In 1878 Cottle first described in the St George Hospital Reports about angiokeratoma- dermatological manifestations of Fabry's disease.
- 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"
- In 1986 and 1989 Colcott Fox published more cases with angiokeratomas.
- In 1965 Ken Hashimoto published electron microscopic findings. [33][34]
- In 2001 Specific treatment for Fabry's disease was introduced.{19}{22}
[1].