Table 1.

Clinical Data of CF Patients Carrying the G85E Mutation

Patient No.GenotypeSexAge at DiagnosisSweat Chloride meq/lMode of PresentationCurrent AgePancreatic StatusFEV1 % PredictedWeight PercentileSputum Culture
1*G85E/G85EF9 mo143Respir + GIDied 13 yPINA<3  Klebsiela
2*G85E/G85EM2 mo184RespirDied 10 yPINA<3  H influenzae
3*G85E/G85EM12 y54Liver13 yPS82<3  H influenzae
4G85E/G85EF6 mo157Respir + GIDied 6 yPI20<3  P aeruginosa
5G85E/G85EF2 mo90Respir + GI4 moPINA<3  H influenzae
6G85E/G85EF3 mo97Respir + GI6 yrPS8635  H influenzae  + Staph
7G85E/ΔF508M6 mo158GIDied 11 yPINA3  NA
8G85E/ΔF508M10 y108Screening12 yPS8380  Staph
9G85E/ΔF508M5 moNARespir + GI18 yPI50<3  P aeruginosa  + Staph
10G85E/W1282XF7 mo117Respir20 yPI6550  P aeruginosa
11G85E/W1282XF19 y82Pancreatitis  + Respir34 yPI2250  P aeruginosa
12G85E/3849 + 10KBM5 mo54Respir10 yPI6597  P aeruginosa
  • * and

  • Patients are siblings, respectively.

    Abbreviations: F, female; M, male; Respir, respiratory symptoms; GI, steatorrhea and/or failure to thrive; PI, pancreatic insufficiency; PS, pancreatic sufficiency; NA, not available.