Table 1 Characteristics of nine children with ABCA3 mutations
Patient noAge of onset,manifestationClinical features(age at evaluation)CT imaging(age at examination)Mutational analysisOutcomes (current age)
1Newborn, respiratory failureTa, Cr, Wh, Cl, Hy (4 years)GGO, ST, PE (2 weeks)Nt622C>T (R208W)Nt2279T>G (M760R)Transplanted (died) (5 years)*
2Newborn, respiratory failureTa, Hy (1 month)NoneNt289insANt4648C>T (R1550W)Transplanted (died) (3 months)*
33 months, acute respiratory distressTa, FTT, Hy (3 months)GGO, ST (3 months)Nt2646insCNt3757C>T (P1253S)Died (4 months)*
42 years, acute respiratory distressTa, Cr, Cl, FTT, Hy (2 years)GGO, ST, PE (2 years)Nt4732G>A (E1578K)Nt4772A>C (Q1591P)Alive, ILD score 4 (15 years)
51 year, recurrent hypoxaemiaTa, Cl, FTT, Hy (3 years)GGO, ST, PE, cysts (2 years)Nt59G>T (R20L)Nt2879T>C (L960S)Alive, ILD score 4 (8 years)
6Newborn, pneumoniaTa, Cr, Cl, FTT, Hy (10 years)GGO, ST, PE (4 years)Nt875A>T (E292V)Nt3341C>T (T1114M)Transplanted (alive) (12 years)*
7Newborn, respiratory failureTa, Cl, FTT (6 years)GGO, ST, PE, cysts (6 years)Nt875A>T (E292V)Nt4706delTCA (deltaI1569)Alive, ILD score 1 (18 years)
8Newborn, pneumoniaTa, Cr, Cl, Hy (6 years)GGO, PE (6 years)Nt629G>T (G210V)Nt3609delCTT (deltaF1203)Alive, ILD score 3 (11 years)
94 years, recurrent hypoxaemiaTa, Cr, Hy (exertional) (8 years)GGO, ST (7 years)Nt128G>A (R43H)Nt1609 in/del (end exon 13)Alive, ILD score 2 (13 years)
  • Ta, tachypnoea; Cr, crackles; Wh, wheezing; Cl, clubbing; Hy, hypoxaemia; FTT, failure to thrive; GGO, ground-glass opacification; ST, septal thickening; PE, pectus excavatum.

  • *Age at transplantation or death.