Clinical and Para Clinical Findings in Children with Progressive Familial Intrahepatic Cholestasis in Iran; A Referral Center Report

Abstract

BackgroundProgressive Familial Intrahepatic Cholestasis (PFIC) is a heterogeneous group of disorders with various clinical and para-clinical manifestations. We report clinical and para-clinical findings in children with progressive familial intrahepatic cholestasis in Southern Iran.MethodsMedical records of 102 patients aged ≤18 years old diagnosed with PFIC who referred to our referral center were evaluated from 2008 to 2012. Baseline and clinical characteristics, outcomes and survival of these patients were recorded. ResultsThe study included 61 boys and 41 girls. Most common complaints were jaundice in 53 (51.96 %), pruritus and jaundice in 15 (14.70 %) and jaundice+elevated liver enzymes in 11 (10.78%) children. Main clinical findings in children were jaundice (51.96%), ascites (28.43%), pruritus (19.60%), fever (16.66%) and encephalopathy (14.70%). Inhomogeneous echogenicity (31.37%), splenomegaly (26.47%), hepatomegaly (17.64%), cirrhosis (9.80%) and ascites (6.86%) were the most common sonography findings among children with PFIC, respectively. Histopathologic evaluation showed cirrhosis (34.31%), followed by fibrosis (18.62%), cholestasis (10.78%), inflammation of liver tissue (4.90%), nodule formation (2.94%), and destruction of lobular and vascular architecture (1.96%). Liver transplantation, medical therapy and biliary diversion had been performed for 67%, 13% and 11% of the patients, respectively. Mean (SD) PELD and MELD scores among children with PFIC were 7.14±14.63 and 15.75±7.21, respectively. Three month mortality rate for PFIC patients with end stage liver disease was 13.1%.ConclusionInhere we reported invaluable clinicopathological findings among a large series of patients with PFIC.

Expression of miR-34a in Children with Progressive Familial Intrahepatic Cholestasis: A Cross-Sectional Study Based on Shiraz Pediatric Liver Cirrhosis Cohort Study

“…Progressive familial intrahepatic cholestasis diagnosis is based on a detailed history, physical examination, laboratory findings, radiologic evaluations, histological evaluations, and genetic study (2)(3)(4). Therapeutic strategies for PFIC patients include medications, dietary supplements, and surgical interventions, such as internal or external biliary diversions and liver transplantation for patients with progressive liver fibrosis and end-stage liver disease and for patients with severe intractable pruritus (2,5).…”