Delayed identification of compound heterozygous (Phe508del/Arg117His) cystic fibrosis variants in a patient awaiting liver transplantation.
Mostin A HuThomas McLellanDorothy GrogonoSumit KariaJurgen HerrePublished in: BMJ case reports (2023)
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.
Keyphrases
- cystic fibrosis
- pseudomonas aeruginosa
- late onset
- early onset
- case report
- copy number
- lung function
- computed tomography
- biofilm formation
- blood pressure
- healthcare
- pulmonary hypertension
- acinetobacter baumannii
- genome wide
- dual energy
- spinal cord
- palliative care
- image quality
- magnetic resonance imaging
- transcription factor
- low grade
- single cell
- spinal cord injury
- dna methylation
- adipose tissue
- contrast enhanced
- polycystic ovary syndrome
- high resolution
- drug induced
- multidrug resistant
- chronic obstructive pulmonary disease
- staphylococcus aureus
- bioinformatics analysis
- arterial hypertension