Demographic and clinical information, at time of diagnosis, among the cystic fibrosis population in South Africa, December 2018#, stratified by ancestry
| Caucasian | Mixed | Black African | Indian | Total | |
| Subjects n* | 315 | 87 | 41 | 4 | 447 |
| Female sex n (%) | 179 (56.8) | 40 (46.0) | 15 (36.6) | 1 (25.0) | 235 (52.6) |
| Diagnosis age | n=309 | n=87 | n=39 | n=4 | n=439 |
| Diagnosis age in months, median (IQR) | 8.9 (2.0–40.0) | 6.9 (2.3–26.6) | 6.4 (3.5–8.9) | 54.9 (4.5–130.2) | 7.6 (2.7–37.1) |
| Diagnosis age in years n (%) | |||||
| <1 | 167 (54.0) | 53 (60.9) | 31 (79.5) | 2 (50.0) | 253 (57.6) |
| 1–3 | 57 (18.4) | 15 (17.2) | 2 (5.1) | 0 (0) | 74 (16.9) |
| 3–10 | 46 (14.9) | 14 (16.1) | 5 (12.8) | 1 (25.0) | 66 (15.0) |
| 10–17 | 21 (6.8) | 3 (3.4) | 1 (2.6) | 1 (25.0) | 26 (5.9) |
| ≥18 | 18 (5.8) | 2 (2.3) | 0 (0) | 0 (0) | 20 (4.6) |
| Nutritional status | |||||
| WAZ at diagnosis (age 0–17 years) | n=183 | n=68 | n=34 | n=3 | n=288 |
| Median (IQR)** | −1.5 (−3.2 to −0.5) | −2.8 (−4.1 to 1.6) | −4.2 (−5.3 to −3.1) | −4.0 (−4.5 to −4.0) | −2.2 (−3.8 to −0.9) |
| WAZ ≤1.0 n (%) | 118 (64.5) | 53 (77.9) | 34 (100) | 3 (100) | 208 (71.9) |
| WAZ ≤3.0 n (%) | 50 (27.3) | 29 (42.6) | 26 (76.5) | 2 (66.7) | 107 (37.2) |
| HAZ at diagnosis (age 0–17 years) | n=157 | n=45 | n=32 | n=2 | n=236 |
| Median (IQR)** | −1.6 (−3.2 to −0.4) | −1.8 (−3.9 to −0.6) | −2.3 (−3.9 to −0.6) | −1.0 (−4.0 to −1.0) | −1.8 (−3.3 to −0.5) |
| HAZ ≤1.0 n (%) | 102 (65.0) | 31 (68.9) | 24 (75.0) | 1 (50.0) | 158 (66.9) |
| HAZ ≤3.0 n (%) | 40 (25.5) | 15 (33.3) | 12 (37.5) | 1 (50.0) | 68 (28.8) |
| BMI at diagnosis kg·m−2 (age ≥18 years) | n=6 | n=0 | n=0 | n=0 | n=6 |
| Median (IQR) | 22.8 (18.6–24.8) | — | — | — | 22.8 (18.6–24.8) |
| BMI<18.5 n (%) | 1 (16.7) | — | — | — | 1 (16.7) |
| Neonatal bowel obstruction n (%) | n=315 | n=87 | n=41 | n=4 | n=447 |
| Yes | 57 (18.1) | 8 (9.2) | 3 (7.3) | 0 (0) | 68 (15.2) |
| Unknown | 16 (5.1) | 1 (1.1) | 2 (4.9) | 0 (0) | 19 (4.3) |
| Sweat-testing | |||||
| Sweat chloride mmol·L−1 | n=134 | n=62 | n=15 | n=1 | n=212 |
| Mean±sd | 105±18 | 107±17 | 115±24 | 109 | 106±18 |
| Sweat conductivity mmol·L−1 | n=63 | n=21 | n=18 | n=0 | n=102 |
| Mean±sd | 104±16 | 110±23 | 105±20 | — | 106±19 |
| Genotype | |||||
| p.Phe508del** n (%) | n=315 | n=87 | n=41 | n=4 | n=447 |
| Homozygous | 183 (58.1) | 36 (29.9) | 0 (0) | 1 (25.0) | 220 (49.2) |
| Heterozygous | 102 (32.4) | 40 (46.0) | 1 (2.4) | 1 (25.0) | 144 (32.2) |
| 3120+1G>A; c.2988+1G>A** n (%) | n=315 | n=87 | n=41 | n=4 | n=447 |
| Homozygous | 0 (0) | 0 (0) | 23 (56.1) | 0 (0) | 23 (5.1) |
| Heterozygous | 8 (2.5) | 19 (21.8) | 12 (29.3) | 0 (0) | 39 (8.7) |
| Incomplete genotyping (one or two unknown CFTR variants) ** n (%) | 18 (5.7) | 19 (21.8) | 12 (29.3) | 0 (0) | 49 (11.0) |
| Most common CFTR mutation allele frequencies#: alleles n (%) | n=630 | n=174 | n=82 | n=8 | n=894 |
| F508del; c.1521_1523delCTT/p.Phe508del | 468 (74.3) | 92 (52.9) | 1 (1.2) | 3 (37.5) | 564 (63.1) |
| 3120+1G>A2,3; c.2988+1G>A | 8 (1.3) | 19 (10.9) | 58 (70.7) | 0 (0) | 85 (9.5) |
| Other¶ (<1% allele frequency) | 46 (7.3) | 22 (12.6) | 8 (9.8) | 5 (62.5) | 81 (9.1) |
| Unknown | 24 (3.8) | 24 (13.8) | 15 (18.3) | 0 (0) | 63 (7.0) |
| 3272–26A>G1; c.3140–26A>G | 15 (2.4) | 8 (4.6) | 0 (0) | 0 (0) | 23 (2.6) |
| 394delTT1; c.262_263delTT /p.Leu881IlefsX22 | 18 (2.9) | 0 (0) | 0 (0) | 0 (0) | 18 (2.0) |
| A455E; c.1364C>A/p.Ala455Glu | 11 (1.7) | 5 (1.7) | 0 (0) | 0 (0) | 16 (1.8) |
| N1303K1; c.3909C>G/p.Asn1303Lys | 10 (1.6) | 0 (0) | 0 (0) | 0 (0) | 10 (1.1) |
| R553X; c.1657C>T/p.Arg553X | 7 (1.1) | 3 (1.7) | 0 (0) | 0 (0) | 10 (1.1) |
| G542X1; c.1624G>T/p.Gly542X | 9 (1.4) | 0 (0) | 0 (0) | 0 (0) | 9 (1.0) |
| G551D; c.1652G>A/p.Gly551Asp | 8 (1.3) | 1 (0.6) | 0 (0) | 0 (0) | 9 (1.0) |
WAZ: weight-for-age ; HAZ: height-for-age; BMI: body mass index. #Excludes 12 people for whom diagnostic criteria of the SACFR were not met; column percentages calculated with recorded number of entries as denominator value. ¶Other CFTR mutations, supplementary table S1. *Indicates significance of differences in characteristic by ancestry, p<0.05; and **p<0.001.