title: Liver disease in children with primary immunodeficiencies.
abstract: OBJECTIVE
  To investigate clinical features and to establish optimal management in children with primary immunodeficiency (PID) and liver disease. Study design A retrospective analysis of medical records of 147 children with PID who presented with abnormal liver tests to a tertiary center.
  
  
  RESULTS
  Clinical evidence of liver disease was documented in 35 (23.8%) patients. Of these, 22 (63%) had hepatomegaly and 14 (40%) had splenomegaly. Sclerosing cholangitis (SC) was diagnosed in 21 children (60%), based on radiological and histological criteria; 4 patients with SC on cholangiography had no biliary changes in the liver biopsy. Ultrasonography demonstrated a dilated biliary system in 14 (67%) children with SC. Of 27 children investigated for Cryptosporidium parvum (CSP), 12 (44%) were positive, including 9 of 12 with SC. Overall, 7 (20%) patients died, including 3 boys with disseminated recurrent CSP infection after successful liver transplantation (LT). Temporary deterioration of liver injury was observed in 2 CSP-positive boys with CD40 ligand deficiency (CD40LD) who were undergoing nonmyeloablative hematopoietic stem cell transplantation (HSCT). Successive liver and HSCT was curative in 1 patient with CD40LD and end-stage liver disease.
  
  
  CONCLUSIONS
  SC is the most common hepatic complication of PID. Mild liver involvement could be arrested by early nonmyeloablative HSCT, whereas advanced disease may warrant combined liver and HSCT.
authors.affiliation: Department of Child Health, Institute of Liver Studies and Department of Radiology and King's College Hospital, Denmark Hill, London SE5 9RS, United Kingdom.
authors.forename: Fernanda
authors.initials: F
authors.lastname: Rodrigues
authors.forename: E Graham
authors.initials: EG
authors.lastname: Davies
authors.forename: Phillip
authors.initials: P
authors.lastname: Harrison
authors.forename: James
authors.initials: J
authors.lastname: McLauchlin
authors.forename: John
authors.initials: J
authors.lastname: Karani
authors.forename: Bernard
authors.initials: B
authors.lastname: Portmann
authors.forename: Alison
authors.initials: A
authors.lastname: Jones
authors.forename: Paul
authors.initials: P
authors.lastname: Veys
authors.forename: Giorgina
authors.initials: G
authors.lastname: Mieli-Vergani
authors.forename: Nedim
authors.initials: N
authors.lastname: Hadzić
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002758:Cholangiography; D002760:Cholangiopancreatography, Endoscopic Retrograde; D005260:Female; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007154:Immune System Diseases / Q000150:complications* / Q000503:physiopathology; D007223:Infant; D008107:Liver Diseases / Q000150:complications* / Q000401:mortality / Q000503:physiopathology; D008297:Male; D008499:Medical Records; D012189:Retrospective Studies; D016896:Treatment Outcome