Open AccessMicrobial clues lead to a diagnosis of cystic fibrosis in late adulthood
Author(s) -
Colm Kerr,
D. Morrissy,
Mary Horgan,
Barry J. Plant
Publication year - 2020
Publication title -
bmj case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.231
H-Index - 26
ISSN - 1757-790X
DOI - 10.1136/bcr-2019-233470
Subject(s) - cystic fibrosis , potentiator , medicine , sweat test , stenotrophomonas maltophilia , ivacaftor , cystic fibrosis transmembrane conductance regulator , genetic testing , newborn screening , genetic disorder , bronchoalveolar lavage , pediatrics , disease , immunology , lung , pseudomonas aeruginosa , genetics , biology , bacteria
Cystic fibrosis (CF) is the most common life-limiting autosomal recessive genetic disorder among Caucasian populations. The majority of CF cases are diagnosed in childhood; however, increasing numbers of adults are being diagnosed with the condition. We present the case of a 65-year-old Irish woman presenting with a chronic cough and a history of recurrent respiratory tract infections. Staphylococcus aureus , Scedosporium apiospermum and Stenotrophomonas maltophilia were grown from bronchoalveolar lavage raising suspicion for CF. Sweat testing was negative; however, genetic testing revealed the presence of ∆F508 and R117H CF mutations, the latter mutation conferring a milder form of CF. The patient commenced treatment with the cystic fibrosis transmembrane conductance regulator (CFTR) potentiator medication ivacaftor to good effect. Novel CFTR potentiators and modulators have significant potential to benefit morbidity and mortality in this group. In this case, the microbiological results were key in pursuing genetic testing and diagnosing CF.