Wilson's disease historical perspective: Difference between revisions
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== Overview == | |||
Wilson's disease is named after Dr[[Samuel Alexander Kinnier Wilson]] (1878-1937), the British neurologist who first described the condition in 1912.<ref name=Wilson1912/> | Wilson's disease is named after Dr[[Samuel Alexander Kinnier Wilson]] (1878-1937), the British neurologist who first described the condition in 1912.<ref name=Wilson1912/> | ||
== Historical perspective == | |||
The disease bears the name of the British physician Dr [[Samuel Alexander Kinnier Wilson]] (1878-1937), a [[Neurology|neurologist]]who described the condition, including the pathological changes in the brain and liver, in 1912.<ref name=Wilson1912>{{cite journal|author=Kinnier Wilson SA | title=Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver | journal=Brain | year=1912 | volume=34 | issue=1 | pages=295–507 | doi=10.1093/brain/34.4.295 |url=http://brain.oxfordjournals.org/cgi/reprint/34/4/295 | format=PDF}}</ref> Wilson's work had been predated by, and drew on, reports from the German neurologist Dr [[Carl Friedrich Otto Westphal|Carl Westphal]] (in 1883), who termed it "pseudosclerosis", by the British neurologist Dr [[William Richard Gowers|William Gowers]] (in 1888), and by Dr [[Adolph Strümpell]] (in 1898), who noted hepatic cirrhosis.<ref name=Robertson>{{cite journal |author=Robertson WM |title=Wilson's disease |journal=Arch. Neurol. |volume=57|issue=2 |pages=276–7 |year=2000 |month=February |pmid=10681092 |url=http://archneur.ama-assn.org/cgi/content/full/57/2/276|doi=10.1001/archneur.57.2.276}}</ref> Prof John N. Cumings made the link with copper accumulation in both the liver and the brain in 1948.<ref name="pmid18124738">{{cite journal |author=Cumings JN |title=The copper and iron content of brain and liver in the normal and in hepato-lenticular degeneration |journal=Brain |volume=71 |issue=Dec |pages=410–5 |year=1948 |pmid=18124738 |doi=10.1093/brain/71.4.410 | url=http://brain.oxfordjournals.org/cgi/reprint/71/4/410 |format=PDF}}</ref> The occurrence of hemolysis was noted in 1967.<ref>{{cite journal |author=McIntyre N, Clink HM, Levi AJ, Cumings JN, Sherlock S |title=Hemolytic anemia in Wilson's disease |journal=N. Engl. J. Med. |volume=276 |issue=8 |pages=439–44 |year=1967 |month=February|pmid=6018274}}</ref> | |||
Cumings, and simultaneously the New Zealand neurologist Dr Derek Denny-Brown, working in the USA, first reported effective treatment with metal chelator [[dimercaprol|British anti-Lewisite]] in 1951.<ref>{{cite journal |author=Cumings JN |title=The effects of B.A.L. in hepatolenticular degeneration |journal=Brain |volume=74 |issue=1 |pages=10–22 |year=1951 |month=March |pmid=14830662|doi=10.1093/brain/74.1.10}}</ref><ref>{{cite journal |author=Denny-Brown D, Porter H |title=The effect of BAL (2,3-dimercaptopropanol) on hepatolenticular degeneration (Wilson's disease) |journal=N. Engl. J. Med. |volume=245 |issue=24|pages=917–25 |year=1951 |month=December |pmid=14882450}}</ref> This treatment had to be injected but was one of the first therapies available in the field of neurology, a field that classically was able to observe and diagnose but had few treatments available.<ref name=Robertson/><ref>{{cite journal |author=Vilensky JA, Robertson WM, Gilman S |title=Denny-Brown, Wilson's disease, and BAL (British antilewisite [2,3-dimercaptopropanol]) |journal=Neurology |volume=59 |issue=6 |pages=914–6 |year=2002 |month=September|pmid=12297577}}</ref> The first effective oral chelation agent, [[penicillamine]], was discovered in 1956 by the British neurologist Dr John Walshe.<ref name=Walshe1956>{{cite journal |author=Walshe JM |title=Wilson's disease; new oral therapy|journal=Lancet |volume=267 |issue=6906 |pages=25–6 |year=1956 |month=January |pmid=13279157|doi=10.1016/S0140-6736(56)91859-1}}</ref> In 1982, Walshe also introduced trientine,<ref>{{cite journal |author=Walshe JM|title=Treatment of Wilson's disease with trientine (triethylene tetramine) dihydrochloride |journal=Lancet |volume=1 |issue=8273|pages=643–7 |year=1982 |month=March |pmid=6121964 |doi=10.1016/S0140-6736(82)92201-2}}</ref> and was the first to develop tetrathiomolybdate for clinical use.<ref>{{cite journal |author=Harper PL, Walshe JM |title=Reversible pancytopenia secondary to treatment with tetrathiomolybdate |journal=Br. J. Haematol. |volume=64 |issue=4 |pages=851–3 |year=1986 |month=December|pmid=3801328 |doi=10.1111/j.1365-2141.1986.tb02250.x}}</ref> Zinc acetate therapy initially made its appearance in the Netherlands, where physicians Schouwink and Hoogenraad used it in 1961 and in the 1970s, respectively, but it was further developed later by Brewer and colleagues at the University of Michigan.<ref name=Walshe1996/><ref>{{cite journal |author=Brewer GJ |title=Recognition, diagnosis, and management of Wilson's disease |journal=Proc. Soc. Exp. Biol. Med. |volume=223 |issue=1 |pages=39–46 |year=2000|month=January |pmid=10632959 |url=http://www.ebmonline.org/cgi/content/full/223/1/39 |doi=10.1046/j.1525-1373.2000.22305.x}}</ref> | |||
The genetic basis of Wilson's disease and linkage to ATP7B mutations was elucidated in the 1980s and 1990s by several research groups.<ref name="pmid8298641">{{cite journal |author=Tanzi RE, Petrukhin K, Chernov I, ''et al'' |title=The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene |journal=Nat. Genet. |volume=5 |issue=4 |pages=344–50|year=1993 |pmid=8298641 |doi=10.1038/ng1293-344}}</ref><ref name="pmid8298639">{{cite journal |author=Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW |title=The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene|journal=Nat. Genet. |volume=5 |issue=4 |pages=327–37 |year=1993 |pmid=8298639 |doi=10.1038/ng1293-327}}</ref> | |||
== References == | |||
{{reflist|2}} | {{reflist|2}} | ||
{{WH}} | {{WH}} | ||
{{WS}} | {{WS}} | ||
Revision as of 19:31, 22 August 2012
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Wilson's disease is named after DrSamuel Alexander Kinnier Wilson (1878-1937), the British neurologist who first described the condition in 1912.[1]
Historical perspective
The disease bears the name of the British physician Dr Samuel Alexander Kinnier Wilson (1878-1937), a neurologistwho described the condition, including the pathological changes in the brain and liver, in 1912.[1] Wilson's work had been predated by, and drew on, reports from the German neurologist Dr Carl Westphal (in 1883), who termed it "pseudosclerosis", by the British neurologist Dr William Gowers (in 1888), and by Dr Adolph Strümpell (in 1898), who noted hepatic cirrhosis.[2] Prof John N. Cumings made the link with copper accumulation in both the liver and the brain in 1948.[3] The occurrence of hemolysis was noted in 1967.[4]
Cumings, and simultaneously the New Zealand neurologist Dr Derek Denny-Brown, working in the USA, first reported effective treatment with metal chelator British anti-Lewisite in 1951.[5][6] This treatment had to be injected but was one of the first therapies available in the field of neurology, a field that classically was able to observe and diagnose but had few treatments available.[2][7] The first effective oral chelation agent, penicillamine, was discovered in 1956 by the British neurologist Dr John Walshe.[8] In 1982, Walshe also introduced trientine,[9] and was the first to develop tetrathiomolybdate for clinical use.[10] Zinc acetate therapy initially made its appearance in the Netherlands, where physicians Schouwink and Hoogenraad used it in 1961 and in the 1970s, respectively, but it was further developed later by Brewer and colleagues at the University of Michigan.[11][12]
The genetic basis of Wilson's disease and linkage to ATP7B mutations was elucidated in the 1980s and 1990s by several research groups.[13][14]
References
- ↑ 1.0 1.1 Kinnier Wilson SA (1912). "Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver" (PDF). Brain. 34 (1): 295–507. doi:10.1093/brain/34.4.295.
- ↑ 2.0 2.1 Robertson WM (2000). "Wilson's disease". Arch. Neurol. 57 (2): 276–7. doi:10.1001/archneur.57.2.276. PMID 10681092. Unknown parameter
|month=ignored (help) - ↑ Cumings JN (1948). "The copper and iron content of brain and liver in the normal and in hepato-lenticular degeneration" (PDF). Brain. 71 (Dec): 410–5. doi:10.1093/brain/71.4.410. PMID 18124738.
- ↑ McIntyre N, Clink HM, Levi AJ, Cumings JN, Sherlock S (1967). "Hemolytic anemia in Wilson's disease". N. Engl. J. Med. 276 (8): 439–44. PMID 6018274. Unknown parameter
|month=ignored (help) - ↑ Cumings JN (1951). "The effects of B.A.L. in hepatolenticular degeneration". Brain. 74 (1): 10–22. doi:10.1093/brain/74.1.10. PMID 14830662. Unknown parameter
|month=ignored (help) - ↑ Denny-Brown D, Porter H (1951). "The effect of BAL (2,3-dimercaptopropanol) on hepatolenticular degeneration (Wilson's disease)". N. Engl. J. Med. 245 (24): 917–25. PMID 14882450. Unknown parameter
|month=ignored (help) - ↑ Vilensky JA, Robertson WM, Gilman S (2002). "Denny-Brown, Wilson's disease, and BAL (British antilewisite [2,3-dimercaptopropanol])". Neurology. 59 (6): 914–6. PMID 12297577. Unknown parameter
|month=ignored (help) - ↑ Walshe JM (1956). "Wilson's disease; new oral therapy". Lancet. 267 (6906): 25–6. doi:10.1016/S0140-6736(56)91859-1. PMID 13279157. Unknown parameter
|month=ignored (help) - ↑ Walshe JM (1982). "Treatment of Wilson's disease with trientine (triethylene tetramine) dihydrochloride". Lancet. 1 (8273): 643–7. doi:10.1016/S0140-6736(82)92201-2. PMID 6121964. Unknown parameter
|month=ignored (help) - ↑ Harper PL, Walshe JM (1986). "Reversible pancytopenia secondary to treatment with tetrathiomolybdate". Br. J. Haematol. 64 (4): 851–3. doi:10.1111/j.1365-2141.1986.tb02250.x. PMID 3801328. Unknown parameter
|month=ignored (help) - ↑
- ↑ Brewer GJ (2000). "Recognition, diagnosis, and management of Wilson's disease". Proc. Soc. Exp. Biol. Med. 223 (1): 39–46. doi:10.1046/j.1525-1373.2000.22305.x. PMID 10632959. Unknown parameter
|month=ignored (help) - ↑ Tanzi RE, Petrukhin K, Chernov I; et al. (1993). "The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene". Nat. Genet. 5 (4): 344–50. doi:10.1038/ng1293-344. PMID 8298641.
- ↑ Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW (1993). "The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene". Nat. Genet. 5 (4): 327–37. doi:10.1038/ng1293-327. PMID 8298639.