Fabry's disease historical perspective: Difference between revisions
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{{CMG}} {{Neepa Shah}} {{AE}} {{SUF}} | {{CMG}} {{Neepa Shah}} {{AE}} {{SUF}} | ||
== Overview == | ==Overview== | ||
Fabry's disease is a rare inherited genetic condition that leads to the [[α-galactosidase A]] enzyme deficiency in individuals. The feature and pathophysiology of the disease have been revealed through the years by various scientists. | Fabry's disease is a rare inherited genetic condition that leads to the [[α-galactosidase A]] enzyme deficiency in individuals. The feature and pathophysiology of the disease have been revealed through the years by various scientists. | ||
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*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'''. | *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 '''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]].<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 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 '''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 '''1925''', the '''cardiac''' and '''ophthalmic''' complications and the possible hereditary feature of the disease were reported by Weicksel. | ||
*In '''1947''', | *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 | *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 | *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. | *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''', | *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 | *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== | ||
<references /> | <references /> | ||
Revision as of 18:28, 15 April 2022
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Neepa Shah, M.B.B.S.[2] Associate Editor(s)-in-Chief: Sukaina Furniturewala, MBBS[3]
Overview
Fabry's disease is a rare inherited genetic condition that leads to the α-galactosidase A enzyme deficiency in individuals. 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.