Turkiye Klinikleri Journal of Pediatrics

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FulminanWilson Hastalarının Klinik ve Laboratuvar Bulguları ve Hastalık Seyri: Merkezimizin 16 Yıllık Deneyimi
Clinical and Laboratory Features of Fulminant Wilson's Disease: 16 Years of Experience
Zeren BARIŞa, Oya BALCI SEZERa, Figen ÖZÇAYa
aPediatrik Gastroenteroloji, Hepatoloji ve Beslenme Bölümü, Başkent Üniversitesi Hastanesi,
Ankara, TÜRKİYE
Turkiye Klinikleri J Pediatr. 2019;28(1):28-38
doi: 10.5336/pediatr.2018-64082
Article Language: TR
Full Text
ÖZET
 Amaç: Merkezimize 16 yıl içerisinde akut karaciğer yetmezliği ile başvuran ve fulminan Wilson hastalığı tanısı alan çocuk hastalarımızın klinik ve laboratuvar özelliklerinin ve klinik seyirlerinin değerlendirilmesidir. Gereç ve Yöntemler:Merkezimize başvuran 98 akut karaciğer yetmezlikli çocuk hastanın 11 (%11,2)'i fulminan Wilson hastalığı tanısı aldı. Hastaların klinik ve laboratuvar verileri ile başvuru sırasındaki "pediatric end-stage liver disease" skoru, Child-Pugh evreleri ve yeni Wilson indeksleri değerlendirildi. Bulgular: Toplam 11 hasta fulminan Wilson hastalığı tanısı aldı. Hastaların başvuru sırasındaki yaşları 9,9±2 yıl idi. Sekiz hastada başvuru sırasında ensefalopati bulguları mevcuttu. Ortalama "pediatric end-stage liver disease" skoru, Child Pugh evreleri ve yeni Wilson indeksleri sırasıyla 34±12,1 (16-49), 11,7±1,6 (10-15) ve 15±1,9 (12-18) idi. Sekiz hastada seruloplazmin düzeyi düşük saptandı. Üç hastada 24-saatlik idrar bakır atılımına bakılabildi ve ortalama değeri 430±600 μgr/gün bulundu. Beş hastada D-penisilamin uyarı testi ile 24 saatlik idrar bakır atılımı ölçülerek ortalama değeri 2.721±2.363 μgr/gün saptandı. Dört hasta kaybedildi, altı hastaya karaciğer nakli yapıldı, bir hasta destek tedavisi ile sağkalım gösterdi. Karaciğer nakli yapılan hastalarda nakil sonrası ortalama takip süresi 10,8±3,9 (4,5-16) yıl bulundu. On hastanın karaciğer nakli sırasında çıkarılan karaciğer veya postmortem alınan karaciğer biyopsi örneklerinin histopatolojik incelemesi yapıldı. Sekiz hastada siroz bulguları, bir hastada kronik aktif hepatit bulguları ve diğer bir hastada yaygın mikroveziküler yağlanma saptandı. Karaciğer ortalama kuru bakır ağırlığı 456±325,8 μgr/g idi. Sonuç: Karaciğer nakli yapılamayan hastalarda fulminan Wilson hastalığı genellikle ölümcül seyretmektedir. Düşük riskli hastalara erken dönemde plazmaferez ve bakır bağlayıcı tedavinin başlanması hayat kurtarıcı olabilmektedir. Histopatolojik incelemeler, başvuru sırasında çoğu hastada siroz bulguları olduğunu göstermiştir.

Anahtar Kelimeler: Fulminan Wilson hastalığı; karaciğer biyopsisi; plazmaferez
ABSTRACT
 Objective: We evaluated our 16 years of experience of pediatric patients with fulminant Wilson's disease. Material and Methods: Out of 98 pediatric patients with fulminant liver failure, 11 (11.2%) had fulminant Wilson disease. We reviewed the clinical and laboratory data, pediatric end-stage liver disease, Child-Pugh scores, new Wilson indexes at the time of application and prognosis of the patients. Results: There were a total of 11 patients with fulminant Wilson disease. The mean age at the time of arrival was 9.9±2 years. Eight patients had findings of encephalopathy on admission. The mean pediatric end-stage liver disease values, Child Pugh scores and new Wilson indexes were 34±12.1 (16-49), 11.7±1.6 (10-15) and 15±1.9 (12-18), respectively. Eight patients had low ceruloplasmin levels. The 24-hour urine copper could be measured in 3 patients and the mean level was 430±600 μgr/day. The challenge test could be performed in 5 patients and the mean urine copper was 2.721±2.363 μgr/day. Four patients died, six underwent liver transplantation and one patient spontaneously survived. The histopathologic examinations of explant livers or postmortem liver necropsy samples were evaluated in 9 patients. Eight patients had cirrhosis, one had findings of chronic active hepatitis and the other one had microvesicular steatosis. The mean tissue copper level was 456±325.8 μgr/g dry liver tissue. Conclusion: Fulminant Wilson's disease is extremely fatal if liver transplantation cannot be performed. Introduction of plasmapheresis and chelating therapy may be life-saving in low risk patients. Most patients have findings of cirrhosis on liver histopathological examination at the time of arrival.

Keywords: Fulminant Wilson disease; liver biopsy; plasmapheresis
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