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Classification and differential diagnosis of Wilson's disease.
Ann Transl Med 2019; 7(Suppl 2):S63AT

Abstract

Wilson's disease is characterized by hepatic and extrapyramidal movement disorders (EPS) with variable manifestation primarily between age 5 and 45. This variability often makes an early diagnosis difficult. A classification defines different clinical variants of Wilson's disease, which enables classifying the current clinical findings and making an early tentative diagnosis. Until the unequivocal proof or an autosomal recessive disorder of the hepatic copper transporter ATP7B has been ruled out, differential diagnoses have to be examined. Laboratory-chemical parameters of copper metabolism can both be deviations from the norm not related to the disease as well as other copper metabolism disorders besides Wilson's disease. In addition to known diseases such as Menkes disease, occipital horn syndrome (OHS), Indian childhood cirrhosis (ICC) and ceruloplasmin deficiency, recently discovered disorders are taken into account. These include MEDNIK syndrome, Huppke-Brendel syndrome and CCS chaperone deficiency. Another main focus is on differential diagnoses of childhood icterus correlated with age and anaemia as well as disorders of the extrapyramidal motor system. The Kayser-Fleischer ring (KFR) is qualified as classical ophthalmologic manifestation. The recently described manganese storage disease presents another rare metabolic disorder with symptoms similar to Wilson's disease. As this overview shows, Wilson's disease fits into a broad spectrum of internal and neurological disease patterns with icterus, anaemia and EPS.

Authors+Show Affiliations

Department of Neurology, SRO AG Spital Langenthal, Langenthal, Switzerland.

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

31179300

Citation

Hermann, Wieland. "Classification and Differential Diagnosis of Wilson's Disease." Annals of Translational Medicine, vol. 7, no. Suppl 2, 2019, pp. S63.
Hermann W. Classification and differential diagnosis of Wilson's disease. Ann Transl Med. 2019;7(Suppl 2):S63.
Hermann, W. (2019). Classification and differential diagnosis of Wilson's disease. Annals of Translational Medicine, 7(Suppl 2), pp. S63. doi:10.21037/atm.2019.02.07.
Hermann W. Classification and Differential Diagnosis of Wilson's Disease. Ann Transl Med. 2019;7(Suppl 2):S63. PubMed PMID: 31179300.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Classification and differential diagnosis of Wilson's disease. A1 - Hermann,Wieland, PY - 2019/6/11/entrez PY - 2019/6/11/pubmed PY - 2019/6/11/medline KW - ATPases KW - Wilson’s disease KW - classification KW - copper metabolism KW - icterus SP - S63 EP - S63 JF - Annals of translational medicine JO - Ann Transl Med VL - 7 IS - Suppl 2 N2 - Wilson's disease is characterized by hepatic and extrapyramidal movement disorders (EPS) with variable manifestation primarily between age 5 and 45. This variability often makes an early diagnosis difficult. A classification defines different clinical variants of Wilson's disease, which enables classifying the current clinical findings and making an early tentative diagnosis. Until the unequivocal proof or an autosomal recessive disorder of the hepatic copper transporter ATP7B has been ruled out, differential diagnoses have to be examined. Laboratory-chemical parameters of copper metabolism can both be deviations from the norm not related to the disease as well as other copper metabolism disorders besides Wilson's disease. In addition to known diseases such as Menkes disease, occipital horn syndrome (OHS), Indian childhood cirrhosis (ICC) and ceruloplasmin deficiency, recently discovered disorders are taken into account. These include MEDNIK syndrome, Huppke-Brendel syndrome and CCS chaperone deficiency. Another main focus is on differential diagnoses of childhood icterus correlated with age and anaemia as well as disorders of the extrapyramidal motor system. The Kayser-Fleischer ring (KFR) is qualified as classical ophthalmologic manifestation. The recently described manganese storage disease presents another rare metabolic disorder with symptoms similar to Wilson's disease. As this overview shows, Wilson's disease fits into a broad spectrum of internal and neurological disease patterns with icterus, anaemia and EPS. SN - 2305-5839 UR - https://www.unboundmedicine.com/medline/citation/31179300/Classification_and_differential_diagnosis_of_Wilson's_disease L2 - https://doi.org/10.21037/atm.2019.02.07 DB - PRIME DP - Unbound Medicine ER -
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