Süt Çocukluğu Döneminde Kolestaz Nedeni ile Karaciğer Biyopsisi Yapılan Vakaların Klinik-Patolojik Olarak Retrospektif Değerlendirilmesi

Abstract

DOKUZBOY S.R. Clinic-pathologic retrospective evaluation of children submitted to liver biopsy for cholestasis of intrahepatic origin. Hacettepe University Faculty of Medicine, Thesis in Pediatrics. Ankara, 2018 Jaundice is an important sign of acute and chronic liver diseases in children and neonates. Once cholestatic jaundice comes to clinical attention, the initial approach aims to distinguish the diagnosis between intrahepatic causes and extrahepatic, as the latter requires precocious surgical intervention. While the spectrum of aetiologies is broad, clinical manifestations have challenging overlaps. We performed a retrospective review of the hospital records of 111 children (69 boys, 42 girls) less than 2 years of age when jaundice first noticed and who have jaundice of intrahepatic origin and submitted to liver biopsy. Variables including age at when jaundice was noticed, age at presentation, perinatal risk factors, family history of liver disease, parental consanguinity, liver biopsy findings and laboratory values at the first visit were recorded and assessed for possible prediction for prognosis. There were 24 (%21,6) patients in idiopatic neonatal hepatitis, 37 (%33,3) in progresif familial intrahepatic cholestasis (PFIC), 5 (%4,5) in sclerosing cholangitis, 8 (%7,2) in Alagille syndrome/nonsyndromic bile duct paucity, 20 (%18,0) in metabolic disorders and 17 (%15,3) were classified as other diseases. Itching for initial complaint was most common in patients with PFIC and Alagille/nonsyndromic intrahepatic bile duct paucity and abdominal distention was in metabolic disorders. A family history of affected members was more common in PFIC group and parental consanguinity was more common in the metabolic and PFIC groups. For the physical examination findings, ascites was more prominent in metabolic disorders group and cardiac and vertebral defects were in Alagille syndrome. There were no significant differences in relation to age, gender, jaundice, hepatomegaly, splenomegaly, acholia, AST, ALT, ALP, DB and albumin between groups but a significant difference in INR reflected impaired coagulation of patients of the metabolic disease group. The prognosis was found to be poor for male patients and children who have lower albumin levels at presentation and whose liver pathology showed more severe lobular inflammation. Portal inflammation and fibrosis were also more severe in the poor prognostic group but this didn't reach statistical significance. In conclusion; diagnosis of intrahepatic cholestatic diseases is often difficult due to no single clinical feature or laboratory parameter have been found to show sufficient sensitivity and specificity. A detailed algorithmic approach facilitates early etiological diagnosis by careful clinical and laboratory evaluation combined with liver biopsy findings.