Clinical manifestations of Wilson disease in organs other than the liver and brain

被引:50
作者
Dziezyc-Jaworska, Karolina [1 ]
Litwin, Tomas [1 ]
Czlonkowska, Anna [1 ,2 ]
机构
[1] Inst Psychiat & Neurol, Dept Neurol 2, Sobieskiego 9, PL-02957 Warsaw, Poland
[2] Med Univ Warsaw, Dept Expt & Clin Pharmacol, Warsaw, Poland
关键词
Wilson disease (WD); copper toxicity; ophthalmologic signs; renal involvement; cardiac disturbances; endocrinologic manifestations; OPTICAL COHERENCE TOMOGRAPHY; KAYSER-FLEISCHER RING; OSTEOARTICULAR CHANGES; COPPER DEFICIENCY; D-PENICILLAMINE; LONG-TERM; DIAGNOSIS; HYPERCALCIURIA; ARTHROPATHY; DYSFUNCTION;
D O I
10.21037/atm.2019.03.30
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
Wilson disease (WD) is an inherited genetic disorder that is caused by copper metabolism disturbances with main hepatic, neurological, and psychiatric presentation. Deposits of copper accumulate in different organs and may cause a broad range of clinical manifestations. Patients with WD may present with ophthalmological symptoms, or renal, cardiac and osteoarticular involvement. The most common ophthalmological sign as a result of copper accumulation is the Kayser-Fleischer corneal ring, whereas sunflower cataracts are observed rarely. Retinal degeneration, present in WD patients, may serve as a marker of neurodegeneration. Osteoarticular involvement is quite common and includes osteopenia, osteoporosis and arthropathy, which may lead to bone fractures and joint problems mainly affecting knees and wrists. Renal disturbances include tubular dysfunction and renal calculi. A recent cardiac study has shown a higher risk of atrial fibrillation and heart failure in WD patients than in non-WD patients. Autonomic system dysfunction is also observed, but involvement is subclinical in most cases. Another manifestation of WD concerns endocrine system disturbances, which can lead to recurrent abortions, infertility, growth disruption, and parathyroid failure. However, it is possible to become pregnant for females with mild WD symptoms and for those who are compliant with therapy. Hematologic disturbances are frequent and may include acute hemolytic anemia, leucopenia, anemia and low platelet count. Other observed symptoms include lipomas and characteristic of WD skin changes like hyperpigmentation of the legs, xerosis or azure lunulae of the nails. In this paper, we present some of the less common, but nevertheless, important manifestations of WD.
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页数:7
相关论文
共 63 条
[1]   Retinal Neurodegeneration in Wilson's Disease Revealed by Spectral Domain Optical Coherence Tomography [J].
Albrecht, Philipp ;
Mueller, Ann-Kristin ;
Ringelstein, Marius ;
Finis, David ;
Geerling, Gerd ;
Cohn, Eva ;
Aktas, Orhan ;
Hartung, Hans-Peter ;
Hefter, Harald ;
Methner, Axel .
PLOS ONE, 2012, 7 (11)
[2]  
[Anonymous], 1996, MAJOR PROBLEMS NEURO
[3]   HYPERCALCIURIA AND NEPHROLITHIASIS AS A PRESENTING SIGN IN WILSON DISEASE [J].
AZIZI, E ;
ESHEL, G ;
ALADJEM, M .
EUROPEAN JOURNAL OF PEDIATRICS, 1989, 148 (06) :548-549
[4]   RENAL FUNCTION IN WILSONS DISEASE [J].
BEARN, AG ;
YU, TF ;
GUTMAN, AB .
JOURNAL OF CLINICAL INVESTIGATION, 1957, 36 (07) :1107-1114
[5]  
Broniek-Kowalik K, 2019, ACTA OPHTHALMOLOGICA
[6]   Cardiac assessment in Wilson's disease patients based on electrocardiography and echocardiography examination [J].
Buksinska-Lisik, Malgorzata ;
Litwin, Tomasz ;
Pasierski, Tomasz ;
Czlonkowska, Anna .
ARCHIVES OF MEDICAL SCIENCE, 2019, 15 (04) :857-864
[7]  
CANELAS HM, 1978, ACTA NEUROL SCAND, V57, P481
[8]   D- penicillamine versus zinc sulfate as first- line therapy for Wilson's disease [J].
Czlonkowska, A. ;
Litwin, T. ;
Karlinski, M. ;
Dziezyc, K. ;
Chabik, G. ;
Czerska, M. .
EUROPEAN JOURNAL OF NEUROLOGY, 2014, 21 (04) :599-606
[9]   STUDY OF HEMOLYSIS IN WILSONS DISEASE [J].
CZLONKOWSKA, A .
JOURNAL OF THE NEUROLOGICAL SCIENCES, 1972, 16 (03) :303-+
[10]   Wilson disease [J].
Czlonkowska, Anna ;
Litwin, Tomasz ;
Dusek, Petr ;
Ferenci, Peter ;
Lutsenko, Svetlana ;
Medici, Valentina ;
Rybakowski, Janusz K. ;
Weiss, Karl Heinz ;
Schilsky, Michael L. .
NATURE REVIEWS DISEASE PRIMERS, 2018, 4