Çocuklarda Wilson hastalığı: 41 olgunun analizi

Year 2019, Volume: 10 Issue: 1, 18 - 25, 21.03.2019

Serkan Tursun , Hacer Fulya Gülerman

https://doi.org/10.18663/tjcl.493563

Cited By: 2

Abstract

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.

Keywords

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

Wilson’s disease in children: Analysis of 41 cases

Abstract

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.

Keywords

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

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