Wilson's disease historical perspective: Difference between revisions

Jump to navigation Jump to search
VisualWikitext
Line 3: Line 3:
{{CMG}}
{{CMG}}
== Overview ==
== Overview ==
Wilson's disease was first described by Dr. [[Samuel Alexander Kinnier Wilson]] where he described the pathological changes in the brain and liver in 1912. Many research studies revealed the correlation between ATP7B gene mutation and Wilson's disease. The first effective oral chelator was discovered by Dr. Walshe in 1956. 


== Historical perspective ==
== 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>
=== Discovery ===
* In 1912, the neurologist Dr. [[Samuel Alexander Kinnier Wilson]] was the first to describe Wilson's disease. Dr. Wilson described the pathological changes in the brain and liver.<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>
* In 1948, Dr. John N. Cumings described the correlation between the copper accumulation and the pathological changes that occur in the liver and the brain. <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>
* From 1980s to 1990s, many research studies proved the linkage between the mutation of ATP7B gene and Wilson's disease.<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>


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.
=== Landmark Events in the Development of Treatment Strategies ===
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>
* In 1951, Dr. Cumings and Dr. Denny-Brown reported the first effective treatment against Wilson's disease by the copper chelators.<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>I
* In 1956, Dr. Walshe discovered penicillamine which was the first effective oral chelator back then.<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 1961, Dr. Schouwink and Dr. Hoogenraad used Zinc acetate as a medical therapy in treatment of Wilson's disease.
* In 1982, Dr. Walshe also described trientine as an effective chelator also for the copper. <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>


== References ==
== References ==

Revision as of 15:19, 26 December 2017

Wilson's disease Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Wilson's disease from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Study of Choice

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X-ray

CT

MRI

Echocardiography or Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Wilson's disease historical perspective On the Web

Most recent articles

cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Wilson's disease historical perspective

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Wilson's disease historical perspective

CDC on Wilson's disease historical perspective

Wilson's disease historical perspective in the news

Blogs on Wilson's disease historical perspective

Directions to Hospitals Treating Wilson's disease

Risk calculators and risk factors for Wilson's disease historical perspective

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Wilson's disease was first described by Dr. Samuel Alexander Kinnier Wilson where he described the pathological changes in the brain and liver in 1912. Many research studies revealed the correlation between ATP7B gene mutation and Wilson's disease. The first effective oral chelator was discovered by Dr. Walshe in 1956.

Historical perspective

Discovery

  • In 1912, the neurologist Dr. Samuel Alexander Kinnier Wilson was the first to describe Wilson's disease. Dr. Wilson described the pathological changes in the brain and liver.[1]
  • In 1948, Dr. John N. Cumings described the correlation between the copper accumulation and the pathological changes that occur in the liver and the brain. [2]
  • From 1980s to 1990s, many research studies proved the linkage between the mutation of ATP7B gene and Wilson's disease.[3][4]

Landmark Events in the Development of Treatment Strategies

  • In 1951, Dr. Cumings and Dr. Denny-Brown reported the first effective treatment against Wilson's disease by the copper chelators.[5]I
  • In 1956, Dr. Walshe discovered penicillamine which was the first effective oral chelator back then.[6]
  • In 1961, Dr. Schouwink and Dr. Hoogenraad used Zinc acetate as a medical therapy in treatment of Wilson's disease.
  • In 1982, Dr. Walshe also described trientine as an effective chelator also for the copper. [7]

References

  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. ↑ 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.
  3. ↑ 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.
  4. ↑ 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.
  5. ↑ 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)
  6. ↑ 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)
  7. ↑ 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)

Template:WH

Template:WS

Retrieved from "https://www.wikidoc.org/index.php?title=Wilson%27s_disease_historical_perspective&oldid=1424617"