A review and update on the diagnosis and treatment of neuropsychiatric Wilson disease.
A review and update on the diagnosis and treatment of neuropsychiatric Wilson disease. Expert Rev Neurother. 2019 Jul 17;: Authors: Cleymaet S, Nagayoshi K, Gettings E, Faden J Abstract Introduction: This paper reviews the presenting signs and symptoms of Wilson's disease, with an emphasis on the recognition and treatment of neuropsychiatric symptoms. Areas covered: A literature search was conducted using PubMed.gov utilizing the following keywords: Wilson Disease, neuropsychiatric, psychiatric symptoms, treatment, antipsychotics, mood stabilizer, psychotherapy, antidepressant, ATP7B. The diagnosis of Wilson's disease and the treatment of hepatic and neuropsychiatric symptoms are reviewed. Expert opinion: Wilson's disease is a rare autosomal recessive disorder with a heterogeneous presentation. Prominent neuropsychiatric symptoms can cloud the initial diagnosis, delaying treatment. Early disease recognition and prompt treatment to restore copper balance is critical in mitigating neuropsychiatric symptoms. Lifetime adherence to maintenance treatment with a chelating agent or zinc is vital for prevention or recurrence of symptoms. Education and supportive psychotherapy have been shown to improve medication adherence. If a psychotropic medication is needed, preference should be given to one with a low risk for extrapyramidal symptoms and hepatotoxicity. PMID: 31314605 [PubMed - as supplied by publisher]
PMID: 31408446 [PubMed - in process]
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CONCLUSION: Patients with WD who develop ALF with an NWIS> 11 may survive after treatment with Zn and chelators, without liver transplantation, when they present with mild hyperbilirubinemia and stage ≤ II hepatic encephalopathy. Osteoarthritis symptoms may improve with long-term Zn and chelator therapy without correlation of liver function in WD. PMID: 31388402 [PubMed]
Abstract Wilson's disease (WD), which might lead to acute liver failure, is an inherited disorder characterized by accumulation of copper (Cu2+) in the brain, the liver, and other vital organs. In the clinic, decreased serum alkaline phosphatase (ALP) concentration is used for WD diagnosis. But to the best of our knowledge, using a fluorescent probe to simultaneously detect multiple factors in WD (e.g., Cu2+, pyrophosphate (PPi), and ALP) has not been reported. Herein, we rationally designed a fluorescent switch (E)-8-((4-methylbenzylidene)amino)napthalen-1-amine (L) and successfully applied it for sequential and ...
This study aimed to evaluate heart structure and function in patients with WD with commonly available diagnostic methods. Material and methods: We compared 125 WD patients with an age- and sex-matched control group. Patients with WD were grouped according to their dominant symptoms - neurologic or hepatic. All subjects underwent clinical, electrocardiographic (ECG), and echocardiographic examinations. Results: All subjects had sinus rhythm on electrocardiography. The only ECG parameter that differed between patients with WD and the control group was the QRS prolongation (92.0 vs. 86.4 ms; p
A 9-year-old boy presented with frequent falls, tremors, and slurring of speech over the past 2 months. There was no history of seizures, jaundice, or viral illness in early childhood. He was born to nonconsanguineous parents and there was no other affected family member. On examination, he had an expressionless face, Kayser–Fleischer rings (bilateral cornea; Figure, A), dysarthria, drooli ng, axial and appendicular tremors, generalized dystonia, and rigidity. A clinical diagnosis of Wilson disease was considered.
Condition: Wilson's Disease Intervention: Other: No intervention Sponsor: Wan-Jin Chen Not yet recruiting
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.