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Table. 3 Clinical characteristics of patients with early-onset or later-onset PF (n = 27) and with different gene mutations (n = 16)

From: Pulmonary fibrosis in dyskeratosis congenita: a case report with a PRISMA-compliant systematic review

Variable Early-onset (n = 16) Later-onset (n = 11) P TERC/TERT (n = 5) TINF2 (n = 6) DKC1/NHP2 (n = 5) P
Age at BMF* (year) 9 ± 8 30 ± 23 0.017 43 ± 14 4 ± 4 23 ± 21 0.003
Age at PF (year) / /   56 ± 8 24 ± 13 36 ± 16 0.004
BMF (moderate to severe) 13/16 (81.3) 2/8 (25.0) 0.021 1/2 (50.0) 4/6 (66.7) 3/5 (60.0) 1.000
CT patterns        
UIP/possible UIP 7/15 (46.6) 6/11 (54.5) 1.000 4/5 (80.0) 3/6 (50.0) 2/5 (40.0)  > 0.05#
  1. Data are presented as mean ± standard deviation or number/total number of the patients with available data (%)
  2. DC: dyskeratosis congenital; BMF: bone marrow failure; PF: pulmonary fibrosis; CT: computed tomography; UIP: unusual interstitial pneumonia;/: not applicable
  3. *Age at BMF was unavailable in 1 patient with later-onset PF and 1 patient with TINF2 variants
  4. TERC/TERT versus TINF2, P = 0.006; TINF2 versus DKC1/NHP2, P = 0.277; TERC/TERT versus DKC1/NHP2, P = 0.266
  5. TERC/TERT versus TINF2, P = 0.001; TINF2 versus DKC1/NHP2, P = 0.137; TERC/TERT versus DKC1/NHP2, P = 0.028
  6. #TERC/TERT versus TINF2, P = 0.545; TINF2 versus DKC1/NHP2, P = 1.000; TERC/TERT versus DKC1/NHP2, P = 0.524