DrPak
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A 26-year-old Caucasian male comes to the physician because of severe productive cough for the past two months. He also complains of occasional blood in sputum, and dyspnea for the last three weeks. His past medical history is significant for otitis media, two episodes of pneumonia, and sinusitis. He and his wife were recently worked up for infertility. Physical examination shows crackles in the left upper lobe. Chest x-ray shows dilated and thickened airways and irregular peripheral opacities in the left upper lobe. Which of the following is the most appropriate test to make the diagnosis of his condition?
A) Sweat chloride test
B) DNA studies
C) Pulmonary function tests
D) Semen analysis
E) Bronchoscopy
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| Aashi
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Well I think , the best intial test is A) Sweat chloride test -->many other diseases can give a positive sweat chloride test, so this is not specific for C.F..
And if they are asking the BEST( most appropriate) test its --> DNA studies --> Mutation of CFTR gene
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| DrPak
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Wouldn't cystic fibrosis have been evident in this patient before 26 years of age? Many patients die without treatment by this age. It's rather late to be presenting now.
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| babydoc4usmle
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it looks so much like Kartagener's - semen is immotile
although situs inversus was not mentioned
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| DrPak
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Kartegener was what I thought as well. Yes, situs invesus is not mentioned, which should have tipped me off to it being the wrong answer. However, I finally discarded cystic fibrosis from my thought process by assuming that CF would have been diagnosed long before this episode. He is in his mid-20s.
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| babydoc4usmle
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CF is not good because besides pulmonary symptoms, there are also GI symptoms should be present (malabsorbtion, pancreatitis). without GI part it is not CF...i think
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| robin082006
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This may be CF or kartagener,
I go with B first.
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| Aashi
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Well Dr.Pak, C.F was once thought to be unique to children,C.F is now recongnized as the most common cause of Airway disease among individuals up2 the age of 30 years..The median age of C.F has risen from the teens in the 1960s to approx 31 years in 1998..and the cases that presnt in adulthood usually presnt as chronic cough and sputum production....and this is evident coz C.F is not a disease just confined to pediatric text books now, its there many internal medicine text books..C.F affects mostly all the system of the body..but MCly the LUNGS..we just cant rule out C.F coz they didnt mention G.I s/s
Talking abt kartageners..I dont think it is.., coz kartageners is a TRAID, the combination of situs inversus( NOT MENTIONED in the q, when they mentioned abt the XRAY!), chronic sinusitis, and bronchiectasis( cysts and honey combing, hyperinflation, atelactasisof the lung --> which is not given in the q)...without these clues, i dont think kartageners cud be the cause for the pts problem..its BETTER, we DONT ASSUME, that they forgot or omitted these prime facts....
Well If there was Serum Igs measurements in the options, i shld have picked that, thinking abt Immunodeficency..All the tests mentioned above r done in pts with Cystic fibrosis, they r just asking us to choose THE MOST APPROPRAITE ONE...( the hx abt frequnet URT and LRT infections + a clue abt infertility + not mentioning anythin abt measuring Igs in the answers given)--> i think they want us to think towards Cystic fibrosis..
GL
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"Obstacles are those frightful things you see when you take your EYES off your goal."
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| DrPak
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Thank you! Great explaination.
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| CocaCola
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Yes thanks aashi, great explaination...
A - sweat chloride test...
this is the best diagnosis for CF because there are so many gentic alterations that lead to CF... genetic testing is only indicated if the sweat chloride test done twice are equivocal and the clinical presentation is indicative of CF...
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| nadiabarati
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I go for D kartagener. Why infertility in CF??
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| prathapdoctor
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infertility is very common in Cystic fibrosis, i will go with B only, any young white patient presenting with cystic fibrosis, you must always consider cystic fibrosis only and the explanation given by asshi is pretty good.
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| Data297
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so whats the answer? I was thinking of A initially.
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| DrPak
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It is A. The patient has CF.
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| MHP
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thanks for this great discussion 
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| Dr.Luck
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but wouldn't best (appropriate answer be B....that is DNA study
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| young_doc
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as cocal cola said, "there are so many gentic alterations that lead to CF".....hence the sweat test instead.
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