Features of patients with dyskeratosis congenita and pulmonary disease

NCI UPNGeneAge at diagnosis yearsAge at PFT yearsDLCOSpirometryAge at HCT yearsHCT regimenAge at PD yearsPulmonary symptomsHRCT scan lungsAVMOutcome
160-1TINF23.66.665%Restrictive9.5Cy/Flu/TBI12Dyspnoea, ↓SO2Bibasilar fibrosis progressed over 2 years with features of UIPNoDied from pulmonary fibrosis, age 14 years
216-1AR-RTEL168.951%Obstructive9.1Cy/Flu/Bu14Dyspnoea, ↓SO2, worse with exerciseInterstitial changes with ground-glass opacities mainly in apices c/w NSIP; 2 AVMsYes, largePulmonary AVM coiled at age 17 years; alive age 18 years
145-1TINF239.562%Normal10.9Cy/Flu/Bu15Dyspnoea, ↓SO2NormalYes, liverDied from HPS, age 16 years
87-1DKC1310.649%Restrictive16.2Cy/Flu/TBI17Cough, air hungerPatchy ground-glass opacities with honeycombing c/w UIPNoDied from pulmonary fibrosis, age 18 years
297-2AR-RTEL11418.361%Restrictive19.3Flu/C/TBI22Dyspnoea, ↓SO2Numerous small micronodular opacities c/w hypersensitive pneumonitis; linear opacities c/w mild interstitial fibrosisYes, portalAlive with pulmonary symptoms, age 23 years
204-1#TINF2312.7<40%Restrictive4.2Cy/ATG11Cough, air hungerMultifocal areas of reticular and ground-glass opacities with honeycombing c/w UIPNoLung transplant age 13 years; died from oral cancer, age 19 years
231-1#UK39.853%Restrictive3.9Cy/Flu/TBI14Cough, dyspnoea, air hungerPatchy diffuse ground-glass opacities c/w NSIP patternNoDied from pulmonary fibrosis, age 17 years
291-1PARN1319.225%Restrictive21Clubbing, ↓SO2Increased reticular markings with architectural distortion in upper lung zones suggestive of NSIPYes, portalUnderwent HCT at age 22 years; alive with pulmonary symptoms, age 25 years
6-1TERC2844.688%Restrictive54Cough, dyspnoea, ↓SO2Peripheral interstitial and ground-glass opacities with honeycombing in bases bilaterally c/w UIPNoAlive on supplemental O2, age 58 years
114-1TERC3456.757%Restrictive56.7Dyspnoea on exertionProgressive polygonal and reticular opacities both lung bases and upper lobes c/w UIPAlive, has dyspnoea and ↓SO2 on exertion, age 59 years
350-1TERC4459.561%Obstructive59.54Cough, dyspnoea, ↓SO2Decreased lung volume; both lower lobes with increased interstitial markings in the periphery with areas of honeycombing (UIP and NSIP pattern)NoUnderwent HCT at age 63 years; died from HCT complications
329-1TERT656934%Restrictive65Dyspnoea, ↓SO2Extensive areas of honeycombing and peripheral fibrosis more marked in lung bases c/w UIPNoDied from pulmonary fibrosis, age 69 years

NCI UPN: National Cancer Institute unique patient number; PFT: pulmonary function test; DLCO: diffusing capacity of the lung for carbon monoxide; HCT: haematopoietic cell transplantation; PD: pulmonary disease; HRCT: high-resolution computed tomography; AVM: arteriovenous malformation; AR: autosomal recessive; UK: unknown; Cy: cyclophosphamide; Flu: fludarabine; TBI: total body irradiation; Bu: busulfan; ATG: antithymocyte globulin; SO2: oxygen saturation; UIP: usual interstitial pneumonia; c/w: consistent with; NSIP: nonspecific interstitial pneumonia; HPS: hepatopulmonary syndrome. #: underwent HCT prior to PFT evaluation; : underwent HCT after the diagnosis of AVM and interstitial fibrosis.