TEST - Book of PDFs-01_Crowley_CFdiagnosis_Crowley_CMS PC.pptx

01_Crowley_CFdiagnosis_Crowley_CMS PC.pptx - 1

Pdf Summary

This document discusses updates in the diagnosis and care of cystic fibrosis (CF) for pulmonologists. The objectives include identifying which patients to screen for CF and CFTR-related disorders, understanding the various diagnostic techniques available, and developing an algorithm for diagnosing CF. <br /><br />A case study is presented of a 52-year-old man with a history of yearly episodes of "acute bronchitis" and worsening symptoms, including a productive cough and sinus symptoms. The medical and surgical history, as well as physical examination, are normal except for symptoms of bronchitis. Pulmonary function tests are obtained. <br /><br />The reader is then asked to determine the next steps in managing the patient. The options include ordering IgE levels and Aspergillus antigen to further investigate allergic bronchopulmonary aspergillosis (ABPA) in a patient with asthma, obtaining sweat chloride testing to consider a diagnosis of CF, treating the patient for uncontrolled asthma with a change in inhaler and albuterol as needed, or performing nasal nitric oxide testing to evaluate for primary ciliary dyskinesia. <br /><br />The document also provides information on sweat chloride testing as a diagnostic tool for CF, including the Hopkins CF website as a resource. Other diagnostic techniques discussed include the newborn screen, nasal potential difference testing, chest and sinus imaging, respiratory cultures, and fecal elastase. <br /><br />The genetics of CF and CFTR-related disorders are also discussed. The CF gene codes for a protein called cystic fibrosis transmembrane regulator (CFTR), which is expressed in multiple organ systems. Genetic testing has identified thousands of variations, but not all have known consequences. CFTR-related disorders are clinical entities associated with CFTR dysfunction that do not meet the diagnostic criteria for CF. <br /><br />The document concludes with a summary of the diagnostic criteria for CF and CFTR-related disorders and references to guidelines for diagnosis and sweat testing from the Cystic Fibrosis Foundation.

Keywords

cystic fibrosis

pulmonologists

diagnosis

care

CFTR-related disorders

screening

diagnostic techniques

algorithm

case study

Cystic Fibrosis