Difficult Diagnosis in Adult Cystic Fibrosis Patients
In this webinar, Dr Nicholas Simmonds explains that although for the vast majority of patients with cystic fibrosis the diagnosis is straight forward, for a very important minority there is not a very clear cut due to the wide spectrum of disease.
Dr Simmonds focuses on the importance of the right diagnosis from various perspectives such as genetic counselling, family planning and the treatment. He explores the wide spectrum of the Cystic Fibrosis disease (different phenotypes and different levels of the disease), and how these impact on the ability to diagnose patients. He also addresses the complicated genetics of certain patients, explaining how nasal potential difference (PD) may add value to diagnostic process, and illustrates all this with some case vignettes.
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Dr Nicholas Simmonds
Dr Simmonds is a consultant respiratory physician and CF Specialist at the Royal Brompton Hospital in 2010 and also holds an Honorary Senior Lecturer position with Imperial College. He continues to research determinants of long-term survival in CF, including a study of gene modifiers, and is a member of the International Study Group of Ageing in CF (ISAC). His other main specialist interest is the diagnosis of CF in equivocal or atypical cases.