Table 2

Comparison of clinical severity and medical management impact of molecular diagnosis between patients diagnosed with genetic lung disease and genetic disease with lung involvement

CharacteristicsTotal patients (n=140)Genetic lung disease (n=23)Genetic disease with lung involvement (n=117)P value*
Respiratory symptom onset age (boys)7 months5 months7.3 months0.682
Enrolment age (boys)3.6 years4.9 years3.4 years0.355
Molecular diagnostic age3.8 years5.1 years3.5 years0.426
ICU hospitalisation, no (%)53 (37.9)8 (34.8)45 (38.5)0.739
Invasive respiratory support, no (%)34 (24.3)5 (21.7)29 (24.8)0.755
Family history, no (%)22 (15.7)1 (4.3)21 (17.9)0.185
Management changes, no (%)†72 (51.4)19 (82.6)53 (45.3)0.001
Otherwise actionable medical measures, no (%)‡38 (27.1)3 (13)35 (29.9)NA
Deceased, no (%)§47 (33.6)6 (26.1)41 (35)0.406
  • *Pearson’s Χ2 test, Fisher’s exact test or Mann-Whitney U test, when applicable.

  • †Indicates redirection of care, initiation of new subspecialist care, changes in medication or diet, major procedures and diagnosis-explained death.

  • ‡Indicates patients who have not yet received management change but might do so in theory after molecular diagnosis.

  • §Death in hospitalisation or within 1 month from discharge.

  • ICU, intensive care unit; NA, not applicable.