Chronic Cholangiopathy Associated with Primary Immune Deficiencies Can Be Resolved by Effective Hematopoietic Stem Cell Transplantation.

Abstract

OBJECTIVES:

To investigate effects and outcome of hematopoietic stem cell transplantation (HSCT) on sclerosing cholangitis, in pediatric patients with different primary immunodeficiencies (PIDs).

STUDY DESIGN:

From databases in 2 tertiary centers for immunodeficiencies and liver disease, we have identified children with PIDs and sclerosing cholangitis, who have paired clinical, radiologic, and histologic information before and after HSCT and studied their clinical progress and outcome.

RESULTS:

Seven of 13 children (53.8%) died at a median interval of 4 months (range, 3 months-5 years) after HSCT. However, 6 surviving children (46.2%) with different PIDs and less severe cholangiopathies showed an improvement in markers of liver injury within months of successful unrelated reduced intensity conditioning HSCT. The repeated native liver biopsy, performed in 4 patients at a median of 96 (range, 4-144) months post-HSCT, showed a considerable improvement. Biochemical markers of liver function in the survivors completely normalized after a median of 13 months (range, 2-48). All patients continue to have a mildly dilated extrahepatic biliary system on ultrasonography with no intrahepatic ductal changes on magnetic resonance cholangiography after a follow-up of median 18 years (range, 2-20).

CONCLUSIONS:

Effective HSCT has the potential to improve biochemical and histologic features of cholangiopathy in children with PIDs, presumably by clearance of chronic infection following establishment of immune competence. However, careful patient selection is critical as advanced liver injury is often associated with serious complications and mortality.

• Authors: Nedim Hadžić, Zohreh Nademi, Maesha Deheragoda, Yoh Zen, Reem Elfeky, Austen Worth, Paul Veys, Giorgina Mieli-Vergani, E Graham Davies
• Journal: The Journal of pediatrics (J Pediatr) Vol. 209 Pg. 97-106.e2 (06 2019) ISSN: 1097-6833 [Electronic] United States
• PMID: 30850087 (Publication Type: Journal Article, Multicenter Study)
• Copyright: Crown Copyright © 2019. Published by Elsevier Inc. All rights reserved.

Topics

• Age Factors
• Biopsy, Needle
• Cause of Death
• Child, Preschool
• Cholangiopancreatography, Endoscopic Retrograde (methods)
• Cholangitis, Sclerosing (diagnostic imaging, epidemiology, pathology, therapy)
• Chronic Disease
• Cohort Studies
• Databases, Factual
• Disease Progression
• Disease-Free Survival
• Female
• Hematopoietic Stem Cell Transplantation (methods, mortality)
• Hospitals, Pediatric
• Humans
• Immunohistochemistry
• Infant
• Male
• Primary Immunodeficiency Diseases (diagnosis, epidemiology, therapy)
• Prognosis
• Retrospective Studies
• Risk Assessment
• Severity of Illness Index
• Sex Factors
• Survival Analysis
• Treatment Outcome
• United Kingdom