Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology.

ABSTRACT:

Background & aims

In children with liver failure, as many as half remain of indeterminate aetiology. This hinders timely consideration of optimal treatment options. We posit that a significant subset of these children harbour known inherited metabolic liver diseases with atypical presentation or novel inborn errors of metabolism. We investigated the utility of whole-exome sequencing in three children with advanced liver disease of indeterminate aetiology.

Methods

Patient 1 was a 10 year-old female diagnosed with Wilson disease but no detectable ATP7B mutations, and decompensated liver cirrhosis who underwent liver transplant and subsequently developed onset of neurodegenerative disease. Patient 2 was a full-term 2 day-old male with fatal acute liver failure of indeterminate

SUBMITTER: Vilarinho S 

PROVIDER: S-EPMC4203706 | biostudies-literature | 2014 Nov

REPOSITORIES: biostudies-literature