Wilson's disease historical perspective

Revision as of 19:15, 29 August 2018 by Anmol Pitliya (talk | contribs)
(diff) ← Older revision | Latest revision (diff) | Newer revision → (diff)
Jump to navigation Jump to search

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]; Associate Editor(s)-in-Chief: Ahmed Elsaiey, MBBCH [2]

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 1902, Dr. Kayser described the corneal rings which was abnormal pigmentation of the eye which was named after that Kayser-Fleisher rings. Dr. Wilson did not correlate between the disease and the pigmented corneal rings at the time he discovered the disease.[2]
  • 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.[3]
  • From 1980s to 1990s, many research studies proved the linkage between the mutation of ATP7B gene and Wilson's disease.[4][5]

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.[6]
  • In 1956, Dr. Walshe discovered penicillamine which was the first effective oral chelator back then.[7]
  • 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.[8]

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. Lorincz MT (2010). "Neurologic Wilson's disease". Ann N Y Acad Sci. 1184: 173–87. doi:10.1111/j.1749-6632.2009.05109.x. PMID 20146697.
  3. 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.
  4. 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.
  5. 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.
  6. 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)
  7. 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)
  8. 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