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Delayed identification of compound heterozygous (Phe508del/Arg117His) cystic fibrosis variants in a patient awaiting liver transplantation.

Accepted version
Peer-reviewed

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Article

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Authors

McLellan, Thomas 
Grogono, Dorothy 
Karia, Sumit 
Herre, Jurgen 

Abstract

A man in his 60s undergoing liver transplant assessment was referred to the respiratory team after a thoracic CT scan revealed diffuse tree-in-bud changes. He had a history of infertility, chronic pancreatitis and liver cirrhosis with portal hypertension. Broncho-alveolar lavage was positive for Pseudomonas aeruginosa Genetic screening found two cystic fibrosis transmembrane conductance regulator variants: Phe508del and Arg117His-7T. The patient was referred to the regional cystic fibrosis (CF) centre for follow-up but died from hepatobiliary complications. The atypical presentation with relatively late onset of pulmonary disease and hepatobiliary disease predominance created a diagnostic challenge. This case is a reminder that while CF is a monogenic disorder, its manifestation, natural history and extent can be highly variable. Taking a thorough medical history of any chronic illness is essential, and patients with the appropriate clinical presentation, regardless of age, should be investigated for CF.

Description

Keywords

cystic fibrosis, liver disease, Humans, Male, Cystic Fibrosis, Cystic Fibrosis Transmembrane Conductance Regulator, Genetic Testing, Infertility, Liver Cirrhosis, Liver Transplantation, Mutation, Aged

Journal Title

BMJ Case Rep

Conference Name

Journal ISSN

1757-790X
1757-790X

Volume Title

Publisher

BMJ
Sponsorship
none