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   Medical History Information
Mutation 1 Mutation 2 Age at Dx Presenting Symptoms Current Diagnosis Meets Clinical Dx criteria for CF? Back to Main Database
delF508 P67L ? infertility, chronic bronchitis; polyps CF Yes Back
delF508 D110H ? chronic bronchiectasis and cough; clubbing; granddaughter with CF ? Yes Back
delF508 R117C 0 ambiguous genitalia; unilateral agenesis of vas deferens ? No Back
delF508 R117C 4 NBS*; IRT; mild lung disease CF Yes  
delF508 R117L 9 acute persistent respiratory symptoms; pneumonia; persistent cough CF Yes Back
delF508 P205S 1.2 hypocalemic hyponatremic dehydration CF Yes Back
delF508 L206W 0 NBS; trypsinogen 457/ml; borderline sweat test atypical CF No Back
delF508 I336K 16 hospitalized for asthma; bronchiectasis; PA+ CF Yes Back
delF508 R352Q 9 acute and persistent respiratory symptoms CF Yes Back
delF508 5T/12TG 5 borderline sweat chloride; sibling with CF atypical CF Yes Back
delF508 5T/13TG 0 + IRT; + genetic screen CF Yes  
delF508 5T/12TG ? recurrent upper and lower respiratory infections; sinusitis none No  
delF508 5T/12TG .2 abnl NBS; borderline sweat chloride; elevated fecal fat none Yes  
delF508 D579G 10 recurrent pancreatitis; sinusitis; exercise induced asthma atypical CF No Back
delF508 T582S ? pancreatitis CF No Back
Mutation 1 Mutation 2 Age at Dx Presenting Symptoms Current Diagnosis Meets Clinical Dx criteria for CF? Back to Main Database
delF508 Nt2789+2insA 32 infertility; pancreatitis; sinusitis ? Yes Back
delF508 Nt2789+2insA 32 CBAVD and positive sweat chloride Atypical CF Yes  
delF508 Nt2789+5G>A 25 recurrent pneumonia; affected sibling CF Yes Back
delF508 Nt2811G>T 9 Pancreatitis; ABPA; elevated IgE; recurrent bronchitis/pneumonia; central bronchiectasis ABPA; atypical CF No Back
delF508 V920M 32 recurrent bronchitis; cholecystitis atypical CF Yes Back
delF508 D993A ? persistent cough; borderline sweat chloride; fam history of bronchiectasis none No Back
delF508 L967S 45 recurrent pulmonary infections; + sputum; periodic SOB; asthma, chronic sinusitis; bronchiectasis atypical CF Yes Back
delF508 Q996Q 21 chronic bronchitis; bronchiectasis CF Yes Back
delF508 L997F ? recurrent pancreatitis none No Back
delF508 I1027T ? pseudomonas; multiple pneumonias; abnl chest Xray ? Yes Back
delF508 T1053I 24 cough; bronchiectasis; hemoptysis CF No Back
delF508 Nt3600+1G>A 57 recurrent infections incl.MAI and pseudomonas; bronchiectasis CF Yes Back
delF508 R1070W ? acute pancreatitis (6 episodes); borderline sweat chloride none No Back
delF508 S1118F 2 recurrent upper respiratory infections; failure to thrive CF Yes Back
delF508 D1152H 41 bronchiectasis; recurrent lung infections; allergic rhinitis; sinusitis, infertility atypical CF No Back
delF508 D1152H 22 sinusitis; nasal polyps atypical CF Yes  
delF508 D1152H 19 chronic bronchitis. bronchiectasis; MAC CF No  
delF508 Q1291H 11 chronic cough and nonresponding asthma CF; ABPA No Back
delF508 Q1291H 20 cough; asthma, recurrent acute pancreatitis CF; ABPA No  
Mutation 1 Mutation 2 Age at Dx Presenting Symptoms Current Diagnosis Meets Clinical Dx criteria for CF? Back to Main Database
300delA Nt2621+1G>A 22 cough, asthma, recurrent pneumonia; bronchiectasis; CF Yes Back
P67L R347P 10 pneumonia; sinusitis; CBAVD; asthma; history of abdominal pain CBAVD No Back
G85E F191V 0.5 bronchitis; dehydration atypical CF Yes Back
R117H Nt2185insA 62 worsening productive cough requiring constant O2; pseudomonas bronchiectasis; 3 hospitalizations atypical CF No Back
R117H G103X 18 cough; pneumonia CF Yes Back
L138ins Nt3272-26A>G 6 sinus surgery due to chronic sinusitis; nasal polyps; impacted mucus eroding through bone CF Yes Back
Nt909delT Nt3272-26A>G 25 multiple respiratory infections CF Yes Back
5T/12TG G463D 51 sinusitis; bronchitis; constipation, chronic cough atypical CF Yes Back
5T/12TG F693L 14 severe asthma; syncope severe asthma Yes Back
5T/13TG Nt2185insA 1.4 recurrent respiratory infections, especially sinus infections; chronic cough CF Yes Back
Mutation 1 Mutation 2 Age at Dx Presenting Symptoms Current Diagnosis Meets Clinical Dx criteria for CF? Back to Main Database
delI507 R117C ? frequent rhino-sinusitis; malabsorption possible CF No Back
delI507 R117C 1 wheezing; pneumonia CF Yes  
G542X R1162L 4 rectal prolapse; chronic constipation; chronic sinusitis, coughing; + salmonella, mild obstructive lung disease atypical CF Yes Back
Nt2789+5G>A L1007P 32 CBAVD and bronchiectasis CF Yes Back
Nt3272-26A>G Nt3272-26A>G 42.75 chronic cough; wheeze; staph aureus bronchal infection; CRS bronchiectasis with sinusitis No Back
Nt3272-26A>G Nt3272-26A>G 38 recurrent acute pancreatitis; recurrent staph. aureus; bronchitis CF No  
A1067V S1235R 5 persistent respiratory symptoms; chronic sinusitis and bronchitis; symptoms since infancy atypical CF No Back
D1152H W1282X ? chronic cough; bronchiectasis none No Back
Nt3600+2insT Nt3272-26A>G 12.5 nasal polyps; infertility CF Yes Back
Nt3849+10kbC>T Nt3849+10kbC>T ? chronic productive cough; poor weight gain; bronchiectasis ? No Back

 *NBS = newborn screen

   
 
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Copyright 2000 Cystic Fibrosis Foundation Genotyping Center
Last modified: February 27, 2000