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Amaç: Wilson hastalığı otozomal resesif geçiş gösteren, bakır metabolizma bozukluğu ile karakterize bir hastalıktır. Prognoz hastalığın karaciğer tutulumunun şiddetine ve nörolojik bulgulara bağlıdır. Nörolojik tutulum hastalarda bazen ilk bulgu olabilir, erken tanı ve tedavi beyin hasarı ve semptomları kontrol edebilir. Biz bu çalışmada hastalığın nörolojik tutulumun önemini vurgulamak istedik. Gereç ve Yöntemler: Bu çalışmaya Nisan 2008 ile Mayıs 2018 tarihleri arasında Çocuk Nöroloji Bilim Dalı Polikliniğine başvuran nörolojik bulguları olan Wilson hastaları dahil edildi. Hastaların yaşları, cinsiyet dağılımları, başvuru şikayetleri, nörolojik semptomları, hepatolojik bulguları, tedavileri, tedaviye verdikleri cevap retrospektif olarak incelendi. Takipli olan 42 Wilson tanısı alan hastaların hepsine ayrıntılı nörolojik muayene yapıldı. Nörolojik bulgusu olan 15 hasta değerlendirildi. Bulgular: Hastaların yaş ortalaması 12.5±3.6yaş (8-20 yaş), %53.3’ü erkek, %46.7’si kızdı. Hastaların %66.7’sinde hepatolojik semptomlar, %35.7’sinde nörolojik semptomlar ve %26.7’sinde Kayser-Fleischer halkası mevcuttu. Nörolojik bulguları olan hastalarda en sık karşılaşılan semptomlar ataksi ve tremordu (%40). Diğer semptomlar distoni (%13.4), kore (%6.6), nöbet (%13.4), davranış bozukluğu (%13.4), dizartri ve sialore (%13.4)’dı. Nörolojik bulgusu olanların 10’unda (%66.7) radyolojik bulgular vardı. On hastaya penisilamin, 5 hastaya trientin başlandı. Tedavinin 1. yılının sonunda nörolojik semptomlarda trientin tedavisi alanların %80’inde, penisilamin tedavisi alanların %50’sinde düzelme oldu. Sonuç: Wilson hastalığında nörolojik tutulum sık görülür. Bulgular hastalığın başlangıcında gözden kaçabileceği için tanı alan tüm hastalarda nörolojik muayene yapılmalıdır. Ayrıca hareket bozukluğu ile başvuran hastalarda etyolojide Wilson hastalığı akılda tutulmalıdır.
Purpose: Wilson's disease is a disease characterized by bronze metabolism disorder, which shows a autosomal resitive transition. The prognosis depends on the severity of the liver retention of the disease and on the neurological findings. Neurological attitude can sometimes be the first discovery in patients, early diagnosis and treatment can control brain damage and symptoms. In this study we wanted to emphasize the importance of the neurological attitude of the disease. Tools and Methods: This study included Wilson patients with neurological findings from April 2008 to May 2018 to the Children's Neurology Science Department Clinic. Patients’ ages, gender distribution, application complaints, neurological symptoms, hepatological findings, treatments, the response they gave to treatment were examined retrospectively. 42 patients with Wilson diagnosis were subsequently undergoed a detailed neurological examination. 15 patients with neurological findings were assessed. Results: The average age of patients is 12.5±3.6 years (8-20 years), 53.3 percent are men, and 46.7 percent are angry. In 66.7% of patients, hepatological symptoms, in 35.7% neurological symptoms and in 26.7% Kayser-Fleischer ring. In patients with neurological symptoms, the symptoms were ataksis and tremoris (40%). Other symptoms were distonia (%13.4), cornea (%6.6), ulceration (%13.4), behavioral disorder (%13.4), dizarthria and sialore (%13.4). 10 of those with neurological findings (66.7 percent) had radiological findings. Penicillamine in 10 patients, trientine in 5 patients. Treatment 1. At the end of the year, 80% of those receiving trientin therapy with neurological symptoms improved, and 50% of those receiving penicillamin therapy. The result: neurological attitude is frequently observed in Wilson's disease. Neurological examination should be carried out in all patients diagnosed as the findings can be reviewed at the beginning of the disease. In patients with movement disorder, Wilson’s disease should also be taken into account in the ethology.
Objective: Wilson’s disease is an autosomal recessive disorder characterized by copper metabolism disorder. Prognosis depends on the severity of liver involvement and neurological findings. Neurological involvement can sometimes be the first symptom in patients, early diagnosis and treatment can control brain damage and symptoms. In this study, we wanted to emphasize the importance of neurological involvement of the disease. Material and Methods: This study included Wilson patients with neurological findings who applied to Pediatric Neurology Department between April 2008 and May 2018. The age, gender distribution, complaints of the patients, neurological symptoms, hepatological findings, treatments and treatment responses were analyzed retrospectively. A detailed neurological examination was performed on all 42 Wilson patients who were eligible. Fifteen patients with neurological findings were evaluated. Results: The mean age of the patients was 12.5±3.6 years (8-20 years), 53.3% male, 46.7% female. Hepatologic symptoms were present in 66.7% of the patients, neurological symptoms in 35.7% and Kayser-Fleischer ring in 26.7% of the patients. The most common symptoms in patients with neurological findings were ataxia and tremor (40%). Other symptoms were dystonia (13.4%), korea (6.6%), seizures (13.4%), behavioral disorders (13.4%), dysarthria and sialorrhea (13.4%). Radiologic findings were present in 10 (66.7%) of the patients with neurological findings. Ten patients received penicilamine treatment and five patients received trientine treatment. At the end of the first year of treatment, neurological symptoms improved in 80% of those receiving trientine treatment and in 50% of those receiving penicillamine treatment. Conclusion: Neurological involvement is common in Wilson’s disease. Since the findings may be overlooked at the beginning of the disease, neurological examination should be performed in all patients receiving the diagnosis. Wilson’s disease should also be kept in mind in etiology in patients with movement disorder.
Alan : Sağlık Bilimleri
Dergi Türü : Uluslararası
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