Making the diagnosis of cystic fibrosis

The American Journal of the Medical Sciences
Patrick A Flume, Antine Stenbit

Abstract

Since the discovery of the gene associated with cystic fibrosis (CF), there have been considerable advances in our understanding of the mechanisms of disease. Although we are identifying patients with milder manifestations of disease, there are a number of patients who are not diagnosed until adulthood. There is a movement for earlier intervention, so there is increasing interest in making the diagnosis of CF in the asymptomatic patient. With more sophisticated testing, we are able to make the diagnosis in the newborn or even the fetus. In this report, we discuss our current approach to making a diagnosis of CF.

References

Apr 1, 1992·JAMA : the Journal of the American Medical Association·A AnguianoA Milunsky
Nov 1, 1995·American Journal of Respiratory and Critical Care Medicine·P F Pignatti, M Luisetti
Feb 1, 1996·Pediatric Clinics of North America·L B Shalon, J W Adelson
Jan 3, 2001·The Journal of Infectious Diseases·J L BurnsB W Ramsey
Feb 3, 2004·American Journal of Respiratory and Critical Care Medicine·Sarath C RanganathanColin Wallis
Mar 9, 2005·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·Shoban DavéPatrick A Flume
Aug 16, 2005·Chest·Patrick A FlumeLeslie L Clark
Jan 27, 2006·The Journal of Molecular Diagnostics : JMD·Denise LaMarche HeaneyDaynna J Wolff

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Citations

May 13, 2010·Journal of Clinical Neurophysiology : Official Publication of the American Electroencephalographic Society·Khalid El-SalemMohammad Rawashdeh
Aug 1, 2009·Current Opinion in Pulmonary Medicine·Walter M Robinson
Feb 4, 2014·Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society·Ana Claudia Veras MattarFabíola Villac Adde

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