Çocuklarda Wilson hastalığı: 41 olgunun analizi

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

References

1. 1. John LG TJ. Wilson disease in 1998 genetic, diagnostic and therapeutic aspects. Journal of Hepatology 1998; 28: 28-36.
2. 2. Ala A, Walker AP, Ashkan K, Dooley JS, Schilsky ML. Wilson's disease. Lancet 2007; 369: 397-408.
3. 3. Simsek Papur O, Asik Akman S, Terzioglu O. Clinical and genetic analysis of pediatric patients with Wilson disease. Turk J Gastroenterol 2015; 26: 397-403.
4. 4. Merle U, Schaefer M, Ferenci P, Stremmel W. Clinical presentation, diagnosis and long-term outcome of Wilson's disease: a cohort study. Gut 2007; 56: 115-20.
5. 5. Roberts EA, Schilsky ML, American Association for Study of Liver D. Diagnosis and treatment of Wilson disease: an update. Hepatology 2008; 47: 2089-111.
6. 6. Roberts EA, Schilsky ML, Division of G, Nutrition HfSCTOC. A practice guideline on Wilson disease. Hepatology 2003; 37: 1475-92.
7. 7. Kozic D SM, Petrovic B, Dragasevic N, Semnic R and Kostic VS. MR imaging of the brain in patients with hepatic form of Wilson’s disease. Eur J Neurol 2003; 10: 587-92.
8. 8. European Association for Study of L. EASL Clinical Practice Guidelines: Wilson's disease. J Hepatol 2012; 56: 671-85.

9. 9. Arıkan Ç. ea. Wilson’s Disease in Childhood: Evaluation of 46 Cases in Respect to Clinical, Laboratory and Histopathological Features Along With Treatment Results. . Ege Pediatri Bülteni 2007; 14: 157-65.
10. 10. Jones EA, Weissenborn K. Neurology and the liver. J Neurol Neurosurg Psychiatry 1997; 63: 279-93.
11. 11. Gow PJ, Smallwood RA, Angus PW, Smith AL, Wall AJ, Sewell RB. Diagnosis of Wilson's disease: an experience over three decades. Gut 2000; 46: 415-19.
12. 12. Kenngott S, Bilzer M. Inverse correlation of serum bilirubin and alkaline phosphatase in fulminant Wilson's disease. J Hepatol 1998; 29: 683.
13. 13. Berman DH, Leventhal RI, Gavaler JS, Cadoff EM, Van Thiel DH. Clinical differentiation of fulminant Wilsonian hepatitis from other causes of hepatic failure. Gastroenterology 1991; 100: 1129-34.
14. 14. Liu J, Luan J, Zhou X, Cui Y, Han J. Epidemiology, diagnosis, and treatment of Wilson's disease. Intractable Rare Dis Res 2017; 6: 249-55.
15. 15. Burke JF, Dayalu P, Nan B, Askari F, Brewer GJ, Lorincz MT. Prognostic significance of neurologic examination findings in Wilson disease. Parkinsonism Relat Disord 2011; 17: 551-56.
16. 16. Pooya AAA, Eslami NS, Haghighat M. Wilson disease in Southern Iran. Turkish Journal of Gastroenterology 2005; 16: 71-74.
17. 17. Yuce A, Kocak N, Demir H et al. Evaluation of diagnostic parameters of Wilson's disease in childhood. Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology 2003; 22: 4-6.
18. 18. Manolaki N, Nikolopoulou G, Daikos GL et al. Wilson disease in children: analysis of 57 cases. J Pediatr Gastroenterol Nutr 2009; 48: 72-77.
19. 19. Bandmann O, Weiss KH, Kaler SG. Wilson's disease and other neurological copper disorders. Lancet Neurol. 2015;14(1):103-13.
20. 20. Ranjan A, Kalita J, Kumar S, Bhoi SK, Misra UK. A study of MRI changes in Wilson disease and its correlation with clinical features and outcome. Clin Neurol Neurosurg 2015; 138: 31-36.
21. 21. El-Youssef M. Wilson disease. Mayo Clin Proc 2003; 78: 1126-36.
22. 22. Wilson DC, Phillips MJ, Cox DW, Roberts EA. Severe hepatic Wilson's disease in preschool-aged children. J Pediatr 2000; 137: 719-22.
23. 23. Emre S, Atillasoy EO, Ozdemir S, Schilsky M, Rathna Varma CVR, Thung SN, et al. Orthotopic Liver Transplantation for Wilson???S Disease. Transplantation 2001; 72: 1232-36.
24. 24. D'Antiga L. Medical management of esophageal varices and portal hypertension in children. Semin Pediatr Surg 2012; 21: 211-18.
25. 25. Alanen A, Komu M, Penttinen M, Leino R. Magnetic resonance imaging and proton MR spectroscopy in Wilson's disease. Br J Radiol 1999; 72: 749-56.
26. 26. Durand F, Bernuau J, Giostra E et al. Wilson's disease with severe hepatic insufficiency: beneficial effects of early administration of D-penicillamine. Gut 2001; 48: 849-52.
27. 27. Brewer GJ, Askari FK, Lorincz MT et al. Diagnosis and Treatment of Wilson's Disease With an Update on Anticopper Treatment for Other Diseases. Biomedical Research on Trace Elements 2004; 15: 211-21.