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__NOTOC__ | |||
{{Fabry's disease}} | {{Fabry's disease}} | ||
{{CMG}} | {{CMG}} {{AE}} {{GhazalS}} | ||
==Overview== | |||
[[Fabry's disease]] is a rare inherited genetic condition that leads to the [[α-galactosidase A]] enzyme deficiency in individuals. Fabry disease (or Anderson - Fabry disease) was first described separately by two physicians at the end of the 19th century. The feature and pathophysiology of the disease have been revealed through the years by various scientists. | |||
==Historical Perspective== | ==Historical Perspective== | ||
===Discovery=== | |||
*Fabry disease (or Anderson - Fabry disease) was first described separately by two physicians, Johannes Fabry in Germany and William Anderson in England, '''at the end of the 19th century'''. | |||
**In '''1898''', Fabry named it "[[angiokeratoma corporis diffusum]]" following his 13-years-old patient's symptoms of red-purple skin lesion and subsequent [[albuminuria]]. | |||
**In the '''same year''', Anderson reported a 39-years-old patient with [[Angiokeratoma|angiokeratomas]], [[proteinuria]], finger [[Deformity|deformities]], [[varicose veins]], and [[lymphedema]]. <ref name="pmid21290707">{{cite journal| author=Mehta A, Beck M, Sunder-Plassmann G| title=Fabry Disease: Perspectives from 5 Years of FOS | journal= | year= 2006 | volume= | issue= | pages= | pmid=21290707 | doi= | pmc= | url= }} </ref> | |||
*In '''1909''', the '''neurological symptoms''' of the disease were described by Steiner and Voerner. | |||
*In '''1925''', the '''cardiac''' and '''ophthalmic''' complications and the possible hereditary feature of the disease were reported by Weicksel. | |||
*In '''1947''', systemic '''vascular''' involvement was demonstrated by Pompen et al. during Fabry's patients' autopsy.<ref name="pmid18897399">{{cite journal| author=POMPEN AW, RUITER M, WYERS HJ| title=Angiokeratoma corporis diffusum (universale) Fabry, as a sign of an unknown internal disease; two autopsy reports. | journal=Acta Med Scand | year= 1947 | volume= 128 | issue= 3 | pages= 234-55 | pmid=18897399 | doi=10.1111/j.0954-6820.1947.tb06596.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18897399 }} </ref> | |||
*In '''1953''', the disease was recognized as a '''[[storage disease]]''' by Horbostel and Scriba.<ref name="pmid13062573">{{cite journal| author=HORNBOSTEL H, SCRIBA K| title=[Excision of skin in diagnosis of Fabry's angiokeratoma with cardio-vasorenal syndrome as phosphatide storage disease]. | journal=Klin Wochenschr | year= 1953 | volume= 31 | issue= 3-4 | pages= 68-9 | pmid=13062573 | doi=10.1007/BF01478472 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=13062573 }} </ref> | |||
*In '''1963''', Sweeley and Klionsky identified the aggregation of certain types of '''glycolipids''' in various cells of patients with Fabry's disease.<ref name="pmid14081947">{{cite journal| author=SWEELEY CC, KLIONSKY B| title=FABRY'S DISEASE: CLASSIFICATION AS A SPHINGOLIPIDOSIS AND PARTIAL CHARACTERIZATION OF A NOVEL GLYCOLIPID. | journal=J Biol Chem | year= 1963 | volume= 238 | issue= | pages= 3148-50 | pmid=14081947 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=14081947 }} </ref> | |||
*In '''1965''', the nature of Fabry's disease was identified as the '''[[X-linked]]''' genetic disease by Opitz et al. for the first time.<ref name="pmid17948499">{{cite journal| author=Opitz JM, Stiles FC, Wise D, Race RR, Sanger R, Von Gemmingen GR | display-authors=etal| title=The Genetics of Angiokeratoma Corporis Diffusum (Fabry's Disease) and Its Linkage Relations with the Xg Locus. | journal=Am J Hum Genet | year= 1965 | volume= 17 | issue= 4 | pages= 325-42 | pmid=17948499 | doi= | pmc=1932618 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17948499 }} </ref> | |||
*In '''1970''', the specific '''[[α-galactosidase A]] enzyme deficiency''' was recognized as a cause of the disease.<ref name="pmid5411915">{{cite journal| author=Kint JA| title=Fabry's disease: alpha-galactosidase deficiency. | journal=Science | year= 1970 | volume= 167 | issue= 3922 | pages= 1268-9 | pmid=5411915 | doi=10.1126/science.167.3922.1268 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=5411915 }} </ref> | |||
*In '''2001''', specific '''[[enzyme replacement therapy]]''' for Fabry's disease, namely [[Fabrazyme]], was commercially introduced in Europe and in 2003 in the USA.<ref name="pmid16980809">{{cite journal| author=Eng CM, Germain DP, Banikazemi M, Warnock DG, Wanner C, Hopkin RJ | display-authors=etal| title=Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. | journal=Genet Med | year= 2006 | volume= 8 | issue= 9 | pages= 539-48 | pmid=16980809 | doi=10.1097/01.gim.0000237866.70357.c6 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16980809 }} </ref> | |||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
[[Category:Needs english review]] | |||
Latest revision as of 10:23, 14 July 2022
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Ghazal Sanadgol, M.D.[2]
Overview
Fabry's disease is a rare inherited genetic condition that leads to the α-galactosidase A enzyme deficiency in individuals. Fabry disease (or Anderson - Fabry disease) was first described separately by two physicians at the end of the 19th century. The feature and pathophysiology of the disease have been revealed through the years by various scientists.
Historical Perspective
Discovery
- Fabry disease (or Anderson - Fabry disease) was first described separately by two physicians, Johannes Fabry in Germany and William Anderson in England, at the end of the 19th century.
- In 1898, Fabry named it "angiokeratoma corporis diffusum" following his 13-years-old patient's symptoms of red-purple skin lesion and subsequent albuminuria.
- In the same year, Anderson reported a 39-years-old patient with angiokeratomas, proteinuria, finger deformities, varicose veins, and lymphedema. [1]
- In 1909, the neurological symptoms of the disease were described by Steiner and Voerner.
- In 1925, the cardiac and ophthalmic complications and the possible hereditary feature of the disease were reported by Weicksel.
- In 1947, systemic vascular involvement was demonstrated by Pompen et al. during Fabry's patients' autopsy.[2]
- In 1953, the disease was recognized as a storage disease by Horbostel and Scriba.[3]
- In 1963, Sweeley and Klionsky identified the aggregation of certain types of glycolipids in various cells of patients with Fabry's disease.[4]
- In 1965, the nature of Fabry's disease was identified as the X-linked genetic disease by Opitz et al. for the first time.[5]
- In 1970, the specific α-galactosidase A enzyme deficiency was recognized as a cause of the disease.[6]
- In 2001, specific enzyme replacement therapy for Fabry's disease, namely Fabrazyme, was commercially introduced in Europe and in 2003 in the USA.[7]
References
- ↑ Mehta A, Beck M, Sunder-Plassmann G (2006). "Fabry Disease: Perspectives from 5 Years of FOS". PMID 21290707.
- ↑ POMPEN AW, RUITER M, WYERS HJ (1947). "Angiokeratoma corporis diffusum (universale) Fabry, as a sign of an unknown internal disease; two autopsy reports". Acta Med Scand. 128 (3): 234–55. doi:10.1111/j.0954-6820.1947.tb06596.x. PMID 18897399.
- ↑ HORNBOSTEL H, SCRIBA K (1953). "[Excision of skin in diagnosis of Fabry's angiokeratoma with cardio-vasorenal syndrome as phosphatide storage disease]". Klin Wochenschr. 31 (3–4): 68–9. doi:10.1007/BF01478472. PMID 13062573.
- ↑ SWEELEY CC, KLIONSKY B (1963). "FABRY'S DISEASE: CLASSIFICATION AS A SPHINGOLIPIDOSIS AND PARTIAL CHARACTERIZATION OF A NOVEL GLYCOLIPID". J Biol Chem. 238: 3148–50. PMID 14081947.
- ↑ Opitz JM, Stiles FC, Wise D, Race RR, Sanger R, Von Gemmingen GR; et al. (1965). "The Genetics of Angiokeratoma Corporis Diffusum (Fabry's Disease) and Its Linkage Relations with the Xg Locus". Am J Hum Genet. 17 (4): 325–42. PMC 1932618. PMID 17948499.
- ↑ Kint JA (1970). "Fabry's disease: alpha-galactosidase deficiency". Science. 167 (3922): 1268–9. doi:10.1126/science.167.3922.1268. PMID 5411915.
- ↑ Eng CM, Germain DP, Banikazemi M, Warnock DG, Wanner C, Hopkin RJ; et al. (2006). "Fabry disease: guidelines for the evaluation and management of multi-organ system involvement". Genet Med. 8 (9): 539–48. doi:10.1097/01.gim.0000237866.70357.c6. PMID 16980809.