Liver involvement in patients with Gaucher disease types I and III.

ABSTRACT:

Background & aims

Gaucher disease (GD) is a multisystemic disease. Liver involvement in GD is not well characterised and ranges from hepatomegaly to cirrhosis and hepatocellular carcinoma. We aim to describe, and assess the effect of treatment, on the hepatic phenotype of a cohort of patients with GD types I and II.

Methods

Retrospective study based on the review of the medical files of the Gaucher Reference Centre of the Hospital de Clínicas de Porto Alegre, Brazil. Data from all GD types I and III patients seen at the centre since 2003 were analysed. Variables were compared as pre- ("baseline") and post-treatment ("follow-up").

Results

Forty-two patients (types I: 39, III: 3; female: 22; median age: 35 y; enzyme replacement therapy: 37; substrate reduction th

SUBMITTER: Starosta RT 

PROVIDER: S-EPMC7026612 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature