Research Article - Current Pediatric Research (2025) Volume 29, Issue 1

Clinical Outcome of Children with Progressive Familial Intrahepatic Cholestasis: A Cohort Study

Background: Progressive Familial Intrahepatic Cholestasis (PFIC) is a rare genetic liver disorder characterized by cholestasis and progressive liver damage, often leading to cirrhosis and liver transplantation. Understanding the clinical course and outcomes of PFIC is important for improving management techniques, particularly in resource-limited settings like Iran. This study aimed to assess the clinical outcomes and survival rates of children with PFIC in Iran, emphasizing the importance of early diagnosis and liver transplantation. Methods: This cohort study is part of the Shiraz Pediatric Liver Cirrhosis Cohort Study (SPLCCS), initiated in 2018. Data were collected on demographic characteristics, clinical features and laboratory findings. Cox regression analysis was employed to identify risk factors for mortality. Results: Out of 100 PFIC cases, 35% of the children died, with younger age at diagnosis and higher Pediatric End-Stage Liver Disease (PELD) scores associated with increased mortality risk. Liver Transplantation (LTx) was performed in 50% of the cohort, with survival rates of 74%, 70% and 66% at 12 months, 24 months and 60 months, respectively, post-transplant. Higher White Blood Cells (WBC), Aspartate Aminotransferase (AST) and direct bilirubin levels were also significant predictors of mortality. Conclusions: Early diagnosis and liver transplantation are important for improving survival in children with PFIC. High PELD scores, WBC, AST and bilirubin levels are associated with increased mortality risk, emphasizing the need for early intervention and regular monitoring

Author(s):

Nasrin Motazedian, Seyed Mohsen Dehghani, Alireza Shamsaeefar, Kourosh Kazemi, Ali Ghorbanpour*, Mehrab Sayadi, Maryam Ataollahi, Saman Nikeghbalian

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