Çocuklarda Wilson hastalığı: 41 olgunun analizi

Öz

Amaç: Bu çalışmada Wilson hastalığı olan 41 çocuğun klinik ve laboratuvar özelliklerinin sunulması amaçlanmıştır.

Gereç ve Yöntemler:  Ankara Dr. Sami Ulus Eğitim ve Araştırma Hastanesi’nde 2001 Haziran - 2005 Mart tarihleri arasında Wilson hastalığı tanısı konan tüm hastaların tıbbi kayıtları geriye dönük olarak incelendi. Hastaların kayıtlarından demografik, klinik ve biyokimyasal bilgiler alındı. Bulgular SPSS Windows 16.0 (SPSS Inc. IL, USA) istatistik yazılımı ile analiz edildi.

Bulgular: Toplam 41 hasta Wilson hastalığı tanısı almıştı: 3-14 yaş aralığında 24 erkek ve 17 kız idi. Hastaların yaş ortalaması 9.05 ± 2.84 yıldı. 24 hastada Kayser-Fleischer halkaları gözlendi. 24 saatlik idrarda idrar bakır atılımı 40 hastanın 39'unda yüksekti. Serum seruloplazmin düzeyleri 40 hastanın 35'inde düşük bulundu. Hastaların on üçü aile taramasından sonra tanı aldı. Nörolojik sistem şikayeti veya fizik muayene bulguları olmayan 8 hastanın 4'ünde patolojik beyin MR bulguları saptandı.

Sonuç: Özellikle akraba evliliklerinin çok yaygın olduğu toplumlarda, kronik karaciğer hastalıklarının ayırıcı tanısında, uzamış hipertransamineminin ve nedeni bilinmeyen dejeneratif beyin bozukluklarının ayırıcı tanısında Wilson hastalığı da düşünülmelidir.

Bizim çalışmamızda Wilson hastalığı tanısı ve izleminin klasik tanı yöntemlerinin değerini koruduğu ve nörolojik bulgular ortaya çıkmasa bile nörolojik tutulumun erken saptanmasında nörogörüntülemenin yararlı olabileceği gösterilmiştir.

Anahtar Kelimeler

• Wilson hastalığı,Çocuklar,Kronik karaciğer hastalıkları;,Bakır metabolizması,Nörolojik tutulum;

Wilson’s disease in children: Analysis of 41 cases

Öz

Aim:Thisstudyaimedtopresentclinical and laboratory features of 41 children with Wilson's disease.

Material and Methods: The medical records of all of the patients who had got a diagnosis of Wilson's disease between 2001 June and 2005 March in Ankara Dr. Sami Ulus Training& Research Hospital, Turkey. Demographic, clinical and biochemical information was obtained from the patients' records. Findings were retrospectively analyzed by the SPSS Windows 16.0 (SPSS Inc. IL, USA) statistical software.

Results:A total of 41 patients had got the diagnosis of Wilson's disease: 24 boys and 17 girls, between in the range of 3-14 years old. The mean age of patients was 9.05±2.84 years. Kayser-Fleischerrings were observed in 24 patients.Urinary copper excretion in 24-hours urine was high in 39 of 40 patients. Serum ceruloplasmin levels were found low in 35 of 40 patients. Thirteen of patients were diagnosed after the family screening. Pathologic brain MR findings were detected in 4 of 8 patients without neurological system complaints or physical examination findings.

Conclusion: Especially in societies that consanguineous marriages are so common, Wilson's disease should be considered in differential diagnosis of chronic liver diseases, prolonged hypertransaminasemia, and degenerative brain disorders of unknown origin. In our study, it has been shown that Wilson's disease diagnosis and follow-up preserved the value of classical diagnostic methods and it has been shown that neuroimaging may be useful for early detection of neurological involvement even if neurological findings do not occur.

Anahtar Kelimeler

• Wilson’s disease,Children,Chronic liver diseases,Copper metabolism,Neurological involvement

Kaynakça

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