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Other organ involvement and clinical aspects of Wilson disease.
Handb Clin Neurol. 2017; 142:157-169.HC

Abstract

Wilson disease (WD) is a rare disorder of copper metabolism that presents mainly with hepatic and neuropsychiatric features. Copper accumulates not only in the liver and brain, but also in other organs. Liver injury can also be the cause of secondary impairment of other tissues. Therefore, the clinical manifestation of WD may be renal, cardiac, skin, osteoarticular, or endocrinologic and include other organ disturbances. Renal abnormalities include tubular dysfunction (e.g., renal tubular acidosis, aminoaciduria) and nephrolithiasis. Bone demineralization is a common manifestation in patients with WD. Cardiac injury may include arrhythmia, cardiomyopathy, and autonomic dysfunction. Different endocrine system manifestations, such as infertility or repeated miscarriages, growth and puberty disturbances, and hypoparathyroidism, are observed. Other important clinical aspects of WD include pancreas involvement, immunologic abnormalities, the presence of lipomas, and skin changes. Although other organ involvement is not common in WD and usually not severe, delayed diagnosis may lead to irreversible changes in organs and tissues. Therefore, awareness of other possible WD presentations is important in the differential diagnosis of WD.

Authors+Show Affiliations

Second Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland.Second Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland.Second Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland; Department of Experimental and Clinical Pharmacology, Medical University of Warsaw, Poland. Electronic address: czlonkow@ipin.edu.pl.

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

28433099

Citation

Dzieżyc, Karolina, et al. "Other Organ Involvement and Clinical Aspects of Wilson Disease." Handbook of Clinical Neurology, vol. 142, 2017, pp. 157-169.
Dzieżyc K, Litwin T, Członkowska A. Other organ involvement and clinical aspects of Wilson disease. Handb Clin Neurol. 2017;142:157-169.
Dzieżyc, K., Litwin, T., & Członkowska, A. (2017). Other organ involvement and clinical aspects of Wilson disease. Handbook of Clinical Neurology, 142, 157-169. https://doi.org/10.1016/B978-0-444-63625-6.00013-6
Dzieżyc K, Litwin T, Członkowska A. Other Organ Involvement and Clinical Aspects of Wilson Disease. Handb Clin Neurol. 2017;142:157-169. PubMed PMID: 28433099.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Other organ involvement and clinical aspects of Wilson disease. AU - Dzieżyc,Karolina, AU - Litwin,Tomasz, AU - Członkowska,Anna, PY - 2017/4/24/entrez PY - 2017/4/24/pubmed PY - 2018/3/23/medline KW - Wilson disease KW - cardiac involvement KW - osteoarticular manifestations KW - renal abnormalities SP - 157 EP - 169 JF - Handbook of clinical neurology JO - Handb Clin Neurol VL - 142 N2 - Wilson disease (WD) is a rare disorder of copper metabolism that presents mainly with hepatic and neuropsychiatric features. Copper accumulates not only in the liver and brain, but also in other organs. Liver injury can also be the cause of secondary impairment of other tissues. Therefore, the clinical manifestation of WD may be renal, cardiac, skin, osteoarticular, or endocrinologic and include other organ disturbances. Renal abnormalities include tubular dysfunction (e.g., renal tubular acidosis, aminoaciduria) and nephrolithiasis. Bone demineralization is a common manifestation in patients with WD. Cardiac injury may include arrhythmia, cardiomyopathy, and autonomic dysfunction. Different endocrine system manifestations, such as infertility or repeated miscarriages, growth and puberty disturbances, and hypoparathyroidism, are observed. Other important clinical aspects of WD include pancreas involvement, immunologic abnormalities, the presence of lipomas, and skin changes. Although other organ involvement is not common in WD and usually not severe, delayed diagnosis may lead to irreversible changes in organs and tissues. Therefore, awareness of other possible WD presentations is important in the differential diagnosis of WD. SN - 0072-9752 UR - https://www.unboundmedicine.com/medline/citation/28433099/Other_organ_involvement_and_clinical_aspects_of_Wilson_disease_ L2 - https://linkinghub.elsevier.com/retrieve/pii/B978-0-444-63625-6.00013-6 DB - PRIME DP - Unbound Medicine ER -