TEST - Book of PDFs-01_Crowley_CFdiagnosis_Crowley

01_Crowley_CFdiagnosis_Crowley_CMS PC.pptx

Pdf Summary

A 52-year-old man with a history of yearly episodes of "acute bronchitis" presents with worsening symptoms, including productive cough and sinus symptoms. The patient has a family history of cystic fibrosis (CF). Physical examination is normal, but further work-up is conducted. Sweat chloride testing reveals a value of 86 mmol/L, which is consistent with a diagnosis of CF. Genetic testing confirms the presence of the F508del/27895GA mutation. The patient's symptoms improve with the use of dornase-alfa and pancreatic enzymes.<br /><br />Diagnosing CF can be done through various diagnostic techniques, including sweat chloride testing, nasal potential difference, chest and sinus imaging, respiratory cultures, and fecal elastase. Genetic testing can also be used to identify CFTR gene mutations, although the consequences of most mutations are still unknown. CFTR-related disorders, such as congenital bilateral absence of the vas deferens (CBAVD), acute recurrent or chronic pancreatitis, and disseminated bronchiectasis, can also be associated with CFTR dysfunction.<br /><br />The guidelines for the diagnosis of CF recommend screening patients with signs and symptoms of CF or CFTR-related disorders. A sweat chloride value of 40-59 mmol/L is considered possible CF and requires confirmatory testing and DNA analysis. A value of 60 mmol/L or higher confirms a diagnosis of CF and requires follow-up at a CF center.<br /><br />In summary, this case highlights the importance of considering CF as a diagnosis in patients with recurrent respiratory symptoms, especially if there is a family history of CF. Sweat chloride testing, genetic testing, and other diagnostic techniques can be used to confirm a diagnosis and guide further management.

Keywords

acute bronchitis

worsening symptoms

cystic fibrosis

sweat chloride testing

genetic testing

F508del/27895GA mutation

dornase-alfa

pancreatic enzymes

diagnosing CF

family history