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[A primer on Wilson disease for the general practitioner].
Rev Med Suisse. 2011 Sep 07; 7(307):1690-2, 1694-5.RM

Abstract

Wilson disease (WD) is an inherited disorder of hepatic copper excretion leading to toxic accumulation of copper in the liver as well as the brain, cornea, and other organs. The defect is due to mutations of the copper-transporting ATPase ATP7B. Clinical manifestations are highly variable and comprise acute liver failure, chronic hepatitis and cirrhosis as well as neurological or psychiatric symptoms. The Kayser-Fleischer corneal ring is pathognomonic but absent in about 50% of patients with hepatic manifestations alone. A high index of suspicion in clinically compatible situations is key, with a combination of laboratory tests allowing the diagnosis of WD. Treatment is based on the use of chelating agents, D-penicillamine or trientine. Liver transplantation should be considered for patients with acute liver failure or advanced cirrhosis.

Authors+Show Affiliations

Service de gastroentérologie et d'hépatologie, CHUV, 1011 Lausanne. Philippe.Hiroz@chuv.chNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

fre

PubMed ID

21987877

Citation

Hiroz, Philippe, et al. "[A Primer On Wilson Disease for the General Practitioner]." Revue Medicale Suisse, vol. 7, no. 307, 2011, pp. 1690-2, 1694-5.
Hiroz P, Antonino A, Doerig C, et al. [A primer on Wilson disease for the general practitioner]. Rev Med Suisse. 2011;7(307):1690-2, 1694-5.
Hiroz, P., Antonino, A., Doerig, C., Pache, I., & Moradpour, D. (2011). [A primer on Wilson disease for the general practitioner]. Revue Medicale Suisse, 7(307), 1690-2, 1694-5.
Hiroz P, et al. [A Primer On Wilson Disease for the General Practitioner]. Rev Med Suisse. 2011 Sep 7;7(307):1690-2, 1694-5. PubMed PMID: 21987877.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [A primer on Wilson disease for the general practitioner]. AU - Hiroz,Philippe, AU - Antonino,Anca, AU - Doerig,Christopher, AU - Pache,Isabelle, AU - Moradpour,Darius, PY - 2011/10/13/entrez PY - 2011/10/13/pubmed PY - 2011/12/13/medline SP - 1690-2, 1694-5 JF - Revue medicale suisse JO - Rev Med Suisse VL - 7 IS - 307 N2 - Wilson disease (WD) is an inherited disorder of hepatic copper excretion leading to toxic accumulation of copper in the liver as well as the brain, cornea, and other organs. The defect is due to mutations of the copper-transporting ATPase ATP7B. Clinical manifestations are highly variable and comprise acute liver failure, chronic hepatitis and cirrhosis as well as neurological or psychiatric symptoms. The Kayser-Fleischer corneal ring is pathognomonic but absent in about 50% of patients with hepatic manifestations alone. A high index of suspicion in clinically compatible situations is key, with a combination of laboratory tests allowing the diagnosis of WD. Treatment is based on the use of chelating agents, D-penicillamine or trientine. Liver transplantation should be considered for patients with acute liver failure or advanced cirrhosis. SN - 1660-9379 UR - https://www.unboundmedicine.com/medline/citation/21987877/[A_primer_on_Wilson_disease_for_the_general_practitioner]_ L2 - http://www.diseaseinfosearch.org/result/7506 DB - PRIME DP - Unbound Medicine ER -