Concomitant congenital CMV infection and inherited liver diseases

Rana Swed-Tobia, Imad Kassis, Karin Weiss, Galit Tal, Ron Shaoul, Tzipora C. Falik-Zaccai, Hanna Mandel, Michal Meir

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2 Scopus citations


Inherited liver diseases may present in infancy as cholestatic jaundice progressing to severe hepatic dysfunction. Congenital cytomegalovirus (cCMV) infection may initially involve the liver, yet in otherwise healthy hosts rarely leads to long-term hepatic disease. We report a series of three patients, diagnosed with hereditary liver diseases: progressive familial intrahepatic cholestasis (PFIC) type IV, alpha 1 anti-trypsin deficiency (A1ATD) and Alagille syndrome (ALGS), who were also diagnosed with cCMV infection. All patients were treated with valgancilovir for symptomatic cCMV infection (6–12 months), followed by suppressive dosing in the 2 patients with PFIC and A1ATD. Following 15–24 months of follow-up – the patients with PFIC and A1ATD developed severe liver failure, and the third had ongoing cholestatic disease with stable synthetic function. We propose a significant contribution of cCMV infection to the course of the inherited primary disease, possibly leading to further compromise of the liver. We recommend screening patients with inherited liver disease for cCMV, and considering anti-viral treatment with valganciclovir to delay hepatic disease progression.

Original languageEnglish
Article number104249
JournalEuropean Journal of Medical Genetics
Issue number8
StatePublished - Aug 2021

Bibliographical note

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© 2021 Elsevier Masson SAS


  • Congenital CMV
  • Inherited liver diseases
  • Liver dysfunction
  • Valganciclovir


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