Concomitant congenital CMV infection and inherited liver diseases
2Pediatric Infectious diseases unit, Ruth Rappaport Children's Hospital, Rambam Health Care Campus
3Institute of Human genetics and metabolic disorders, Galilee Medical Center
4Genetics unit, Ruth Rappaport Children's Hospital, Rambam Health Care Campus
5Metabolic disorders unit, Ruth Rappaport Children's Hospital, Rambam Health Care Campus
6Pediatric Gastroenterology Institute, Ruth Rappaport Children's Hospital, Rambam Health Care Campus
Congenital cytomegalovirus (cCMV) infection is the most common congenital infection worldwide. Symptomatic patients may present with neonatal hepatitis or cholestasis, yet most patients recover their hepatic function fully.
Inherited diseases such as Progressive familial intrahepatic cholestasis (PFIC) and alpha 1 anti-trypsin deficiency (A1ATD) may present in infancy as liver disease progressing to severe liver dysfunction.
We present our experience with two patients, one with PFIC type 4 and the other with A1ATD (Z allele homozygous) who were also diagnosed with cCMV infection. Both patients had a severe clinical course with rapid progression of liver disease. Both patients received valganciclovir therapy. Patient 1 had clinical deterioration that was likely secondary to CMV reactivation following cessation of antiviral therapy. Patient 2 succumbed to his liver disease at age 15 months.
We suggest there may be a significant contribution of cCMV infection to the severe course of inherited primary disease, possibly leading to further deterioration of liver function. We recommend screening patients with inherited liver disease for cCMV, and considering anti-viral treatment with valganciclovir.