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- Scheimpflug Imaging of the Danish Cohort of Patients With Wilson Disease. [Journal Article]
- CCornea 2019; 38(8):998-1002
- CONCLUSIONS: ImageJ-based analysis of Pentacam images has a high sensitivity in detecting Kayser-Fleischer rings and can be used as a diagnostic procedure for Wilson disease and may be a tool to monitor the disease in an objective manner.
- [Diagnosis of Kayser Fleischer Ring: Can Early Diagnosis Improve the Outcome of Wilson's Disease?] [Journal Article]
- KMKlin Monbl Augenheilkd 2019 Jul 02
- Wilson's disease is a rare genetic disease of copper metabolism that leads to increased accumulation of copper in the body. Deposits are found mainly in the liver, brain and eye. If left untreated, t…
Wilson's disease is a rare genetic disease of copper metabolism that leads to increased accumulation of copper in the body. Deposits are found mainly in the liver, brain and eye. If left untreated, the disease can lead to movement disorders, personality changes, liver failure and even death. There are many possible differential diagnoses. Diagnosis can only be made through specific test procedures. The ophthalmologist therefore has a special role in the early detection of a Wilson's disease. In our clinic, a 19-year old female patient presented with a faint Kayser-Fleischer corneal ring with otherwise normal ophthalmological findings. The patient had progressive liver failure and received a liver transplant two months after first presentation in the eye clinic. An early ophthalmological co-evaluation with a thorough examination is of great importance for rapid diagnosis. The copper deposits are found in the Descemet membrane and begin in the Schwalbe's line. The so-called Kayser-Fleischer ring can be seen on the Descemet membrane up to 5 mm away from the limbus. Other possible ophthalmological manifestations are chalcosis of the entire Descemet, icterus of the sclera or a sunflower cataract. In the absence of copper deposits in the slit lamp examination, gonioscopy should always be performed if Wilson's disease is suspected. Early diagnosis can protect patients from unnecessary complications and operations. Wilson's disease has a good prognosis if treated.
- Classification and differential diagnosis of Wilson's disease. [Review]
- ATAnn Transl Med 2019; 7(Suppl 2):S63
- 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 di…
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.
- Clinical manifestations of Wilson disease in organs other than the liver and brain. [Review]
- ATAnn Transl Med 2019; 7(Suppl 2):S62
- 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 d…
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.
- [Corneal disorders in Wilson's disease]. [Journal Article]
- OHOrv Hetil 2019; 160(14):555-557
- Wilson's disease is an autosomal recessive hereditary metabolic disease with a pathological accumulation of copper in tissues. This study presents the case of a family, where two females and one male…
Wilson's disease is an autosomal recessive hereditary metabolic disease with a pathological accumulation of copper in tissues. This study presents the case of a family, where two females and one male from among six siblings had this disease. While in the case of the two women only the liver was affected, the young man presented with both psychiatric and ophthalmic disorders. Modern examination methods (anterior segment optical coherence tomography, corneal topography, endothelial specular microscopy) were used to gather data on the corneal disorder that manifested with the classic Kayser-Fleischer ring. We underline the importance of ophthalmological checkup which may help to diagnose this disease. Orv Hetil. 2019; 160(14): 555-557.
- Kayser-Fleischer Ring in Wilson's Disease. [Journal Article]
- QJMQJM 2019 Jan 23
- Anterior segment optical coherence tomography (AS-OCT) as a new method of detecting copper deposits forming the Kayser-Fleischer ring in patients with Wilson disease. [Journal Article]
- AOActa Ophthalmol 2019; 97(5):e757-e760
- CONCLUSIONS: Our results support AS-OCT as a diagnostic procedure to offer better objectivity and accuracy as compared to a slit-lamp examination, both at the diagnostic stage and when monitoring changes in KF ring during medical therapy to assess its efficacy and patient compliance.
- Imaging Kayser-Fleischer Ring in Wilson Disease Using In Vivo Confocal Microscopy. [Journal Article]
- CCornea 2019; 38(3):332-337
- CONCLUSIONS: IVCM images can be used as an objective clinical diagnostic tool to facilitate the identification of K-F rings and the diagnosis of WD.
- Hepatic manifestations of Wilson's disease: 12-year experience in a Swiss tertiary referral centre. [Journal Article]
- SMSwiss Med Wkly 2018 12 17; 148:w14699
- CONCLUSIONS: The clinical presentation of hepatic Wilson’s disease is highly variable. Three out of 10 patients were diagnosed at an age >35 years. A high index of suspicion in clinically compatible situations is key.
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- [Kayser-Fleischer ring in Wilson's disease]. [Case Reports]
- PAPan Afr Med J 2018; 30:137
- Wilson's disease is a copper toxicosis characterized by an overload in tissue copper (mainly hepatic, cerebral and pericorneal). It is caused by ATP7B mutations which incorporate copper into cerulopl…
Wilson's disease is a copper toxicosis characterized by an overload in tissue copper (mainly hepatic, cerebral and pericorneal). It is caused by ATP7B mutations which incorporate copper into ceruloplasmin in the liver and pass out excess copper into the bile. This disease can be adequately treated if diagnosed early. The challenge is to diagnose it in the early stage of liver disease, before it becomes multisystemic. We report the case of a 19-year old female patient with Wilson's disease with multisytemic involvement: mucocutaneous pallor, intermittent hand tremor, that started when she was 16 years, hepatitis complicated by ascites, neurological disorder, such as postural tremor of the arms and the legs. Ophthalmologic examination using the slit-lamp showed Kayser-Fleischer ring in both eyes (A,B) which is a copper deposit in the peripheral corneal endothelium, more precisely on the border area between the cornea and the sclera (C). Laboratory tests showed low ceruloplasmin levels (0.03 g/L), cupremy 0.4 mg/l and urinary copper excretion 11.6 μmol. Brain MRI revealed generalized signal change, gliosis and atrophy of the thalamus and of the brainstem.