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Table 1 Demographics and clinical profile of all published cases with CSF2RA mutations

From: Characterization of CSF2RA mutation related juvenile pulmonary alveolar proteinosis

  Current cohort (n = 9) Literature (n = 11) [ [10]-[12],[14],[16]] Total (n = 20)
Family history    
Sex (female) 7 (78%) 10 (91%) 17 (85%)
Term born 8 (89%) 9 (81%) 17 (85%)
Consanguinity 8 (89%) ≥ 3 (27%) ≥ 11 (55%)
ILD in family 1 (11%) n.a. ≥ 1 (5%)
Symptoms at presentation    
Dyspnea 7 (78%) 7 (63%) 14 (70%)
Tachypnea 3 (33%) n.a. ≥ 3 (15%)
Hypoxaemia 5 (56%) 6 (55%) 11 (55%)
Global respiratory failure 3 (33%) 4 (36%) 7 (35%)
Endotracheal intubation and ventilation 3 (33%) n.a. ≥ 3 (15%)
Cough 5 (56%) n.a. ≥ 5 (26%)
Fever 1 (11%) n.a. ≥ 1 (5%)
Severe pulmonary infections prior to PAP 6 (66%) ≥ 3 (27%) ≥ 9 (45%)
Mycoplasma pneumoniae 2 (22%) n.a. ≥ 2 (10%)
Influenza 1 (11%) 0 (0%) 1 (5%)
RSV 0 (0%) 1 (9%) 1 (5%)
Clinical follow-up    
Age at symptom onset, yr 3.5 (0.2-19) 4 (1.5-9) 4 (0.2-19)
Age at PAP diagnosis, yr 5.3 (2.3-19) 6 (2.5-11) 5.9 (2.3-19)
Diagnostic latency, yr 0.1 (0–5.8) 2 (1–2.5) 1 (0–5.8)
Time of follow-up, yr 2.5 (0.3-12.5) 1.7 (0.9-3) 2.5 (0–12.5)
Outcome    
Alive 9 (100%) ≥ 9 (82%) 18 (90%)
Best respiratory status: asymptomatic 7 (78%) 3 (27%) 10 (50%)
Last respiratory status: asymptomatic 3 (33%) 3 (27%) 6 (30%)
Disease progression: improving 7 (78%) ≥ 3 (27%) ≥ 10 (50%)
Comorbidities    
Failure to thrive 7 (78%) 4 (36%) 11 (55%)
PEG placement 2 (22%) n.a. ≥ 2 (10%)
Clubbing 6 (66%) n.a. ≥ 6 (30%)
Hepatomegaly 1 (11%) n.a. ≥ 1 (5%)
Pectus excavatum 2 (22%) n.a. ≥ 2 (10%)
WLL therapy    
WLL therapy 7 (78%) ≥ 7 (64%) ≥ 14 (70%)
Total number of WLL 19.3 (3–56) n.a. n.a.
Number of WLL per yr of follow-up 1.1 (0.7-6.8) n.a. n.a.