Liver disease in children with primary immunodeficiencies.

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.

CONCLUSION

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.