Table 2. Clinical and biochemical characteristics of previous patients.
| No. | Study | Ethnic | Sex | GA, w | BW, kg | AA, mon | AW, kg | Reason for visit | Gene result of SLC10A1 | ALT, U/L | AST, U/L | GGT, U/L | TB, μmol/L | DB, μmol/L | ALB, g/L | TBA, μmol/L | VD, ng/mL | Family history |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | Vaz 2015 (2) | Afghan | F | 36+4 | 3.328 | 9.10 | Development retardation | c.755G>A, hom | 22 | 40 | 14 | 13 | 11 | 46 | 1,009 | 5.2*1 | +*3 | |
| 2 | Deng 2016 (3) | Chinese | M | 38+2 | 3.60 | 6.00 | 8.5 | Jaundice | c.800C>T, hom | 32 | 37 | 11 | 9.6 | 6 | – | 492.8 | – | – |
| 3 | Liu 2017 (4) | Chinese | M | – | – | 84.00 | – | Volunteer recruitment | c.800C>T, hom | 29 | 30 | 15 | 15 | 4.6 | 45.8 | – | 17.6*2 | – |
| 4 | Qiu 2017 (5) | Chinese | F | 38+2 | 2.85 | 0.30 | – | Jaundice | c.800C>T and c.263T>C, het | 27 | 46 | 183 | 346.5 | 22.4 | 40 | 66.2 | 16.9 | – |
| 5 | Qiu 2017 (5) | Chinese | M | 37 | 3.05 | 0.16 | 2.91 | Jaundice | c.800C>T and c.263T>C, het | 8 | 22 | 109 | 310.1 | 10.3 | 37.2 | 83.9 | 44.1 | – |
| 6 | Song 2017 (6) | Chinese | M | Full term | 3.40 | 5.63 | 7.5 | Jaundice | c.800C>T, hom | 149 | 75 | 30 | 4.1 | 2.1 | 45.4 | 159.4 | 23.7 | +*4 |
| 7 | Li 2018 (7) | Chinese | M | 35 | 2.55 | 3.30 | 6.2 | Jaundice | c.800C>T, hom | 843 | 1295 | 69 | 257 | 192 | 23.3 | 172 | 9.2 | – |
| 8 | Tan 2018 (8) | Chinese | F | 37+2 | 2.25 | 24.00 | 12 | Jaundice | c.800C>T, hom | 15 | 35 | 8 | 5.2 | 1.6 | 43.2 | 173.8 | – | – |
| 9 | Tan 2018 (8) | Chinese | F | 37+2 | 2.30 | 24.00 | 13 | Jaundice | c.800C>T, hom | 13 | 38 | 9 | 4.8 | 1.3 | 44.2 | 198.3 | – | – |
| 10 | Li 2019 (9) | Chinese | M | 39+5 | 3.00 | 27.70 | 11.5 | Medical examination | c.800C>T and c.595A>C, het | 28 | 76 | 20 | 5.4 | 1.4 | 47.1 | 70.5 | – | – |
| 11 | Li 2019 (9) | Chinese | F | 32+3 | 1.40 | 3.80 | 4.7 | Preterm | c.800C>T and c.595A>C, het | 28 | 33 | 46 | 5.6 | 1.7 | 40.4 | 256.5 | – | +*5 |
| 12 | Lin 2019 (10) | Chinese | F | 38+3 | 3.00 | 71.00 | – | Jaundice | c.800C>T, hom | 20 | 24 | 12 | 4.8 | 1.7 | 49.5 | 48.7 | – | – |
| 13 | Lin 2019 (10) | Chinese | M | 37+4 | 2.70 | 13.00 | 10.5 | Jaundice | c.800C>T, hom | 35 | 42 | 16 | 6.7 | 1.5 | 45.6 | 234.5 | – | – |
| 14 | Lin 2019 (10) | Chinese | F | 38+2 | 2.75 | 14.00 | 10.1 | Jaundice | c.800C>T, hom | 21.3 | 35 | 11.8 | 5.4 | 0.9 | 44.7 | 50.9 | – | +*6 |
| 15 | Dong 2018 (11) | Chinese | M | – | – | 1.00 | – | – | c.800C>T, hom | 39 | 79 | 103 | 103.4 | 70.4 | 36.8 | 130.5 | – | – |
| 16 | Dong 2018 (11) | Chinese | F | – | – | 12.00 | – | – | c.800C>T, hom | 15 | 37 | 15 | 5.6 | 1.5 | 45.9 | 84.6 | – | – |
| 17 | Dong 2018 (11) | Chinese | M | – | – | 9.00 | – | – | c.800C>T, hom | 30 | 57 | 10 | 11.9 | 4.7 | 44.5 | 166 | – | – |
| 18 | Dong 2018 (11) | Chinese | M | – | – | 12.00 | – | – | c.800C>T, hom | 24 | 42 | 12 | 5.3 | 2.5 | 49.4 | 165.2 | – | – |
| 19 | Dong 2018 (11) | Chinese | M | – | – | 10.00 | – | – | c.800C>T, hom | 34 | 71 | 18 | 4.4 | 1 | 49.8 | 148.7 | – | – |
| 20 | Dong 2018 (11) | Chinese | M | – | – | 66.00 | – | – | c.800C>T, hom | 23 | 27 | 68 | 27.5 | 11.1 | 31.9 | 172.6 | – | – |
| 21 | Dong 2018 (11) | Chinese | M | – | – | 42.00 | – | – | c.800C>T, hom | 44 | 62 | 148 | 35.8 | 25.8 | 40.1 | 170 | – | – |
| 22 | Dong 2018 (11) | Chinese | M | – | – | 3.00 | – | – | c.800C>T, hom | 72 | 86 | 880 | 36.6 | 29.9 | 40.6 | 125.7 | – | – |
| 23 | Dong 2018 (11) | Chinese | F | – | – | 3.00 | – | – | c.800C>T, hom | 20 | 36 | 227 | 37.4 | 21.2 | 40.9 | 147.1 | – | – |
| 24 | Dong 2018 (11) | Chinese | F | – | – | 15.00 | – | – | c.800C>T, hom | 17 | 39 | 13 | 3.4 | 1.7 | 46.4 | 65.3 | – | – |
| 25 | Dong 2018 (11) | Chinese | M | – | – | 3.00 | – | – | c.800C>T, hom | 47 | 71 | 79 | 17.7 | 7 | 43.6 | 144.5 | – | – |
| 26 | Dong 2018 (11) | Chinese | F | – | – | 1.00 | – | – | c.800C>T, hom | 30 | 56 | 58 | 99.9 | 6.3 | 40.9 | 142.1 | – | – |
| 27 | Dong 2018 (11) | Chinese | F | – | – | 36.00 | – | – | c.800C>T, hom | 71 | 109 | 150 | 54.6 | 44.4 | 43.5 | 175.5 | – | – |
| 28 | Yan 2020 (12) | Chinese | –*9 | – | – | 117.10*10 | – | – | c.800C>T and c.776G>A, het | 16 | 24 | 10 | 19.7 | 2.7 | 39.9 | 118.8 | 23.79 | – |
| 29 | Yan 2020 (12) | Chinese | –*9 | – | – | 0.33*10 | – | – | c.800C>T, hom | 16 | 28 | 193 | 202.8 | 24.1 | 41.34 | 94.67 | – | – |
| 30 | Yan 2020 (12) | Chinese | –*9 | – | – | 0.10*10 | – | – | c.800C>T, hom | 11 | 38 | 78 | 233.1 | 17.8 | 35.8 | 63.8 | – | – |
| 31 | Yan 2020 (12) | Chinese | –*9 | – | – | 0.30*10 | – | – | c.800C>T, hom | 13 | – | 132 | 256.9 | 25.1 | – | 80.1 | – | – |
| 32 | Yan 2020 (12) | Chinese | –*9 | – | – | 64.80*10 | – | – | c.800C>T, hom | 18 | 19 | 8 | 23.3 | 12.7 | 48.2 | 301.3 | 44 | – |
| 33 | Yan 2020 (12) | Chinese | –*9 | – | – | 1.50*10 | – | – | c.800C>T, hom | 84 | 141 | 193 | 199.5 | 132.3 | – | 117.3 | – | – |
| 34 | Yan 2020 (12) | Chinese | –*9 | – | – | 1.53*10 | – | – | c.800C>T, hom | 134 | 183 | – | 160.6 | 78.4 | – | 144.7 | – | – |
| 35 | Yan 2020 (12) | Chinese | –*9 | – | – | 3.50*10 | – | – | c.800C>T, hom | 162.7 | 270.8 | 60.8 | 142.1 | 84.7 | – | 84.7 | 32.16 | – |
| 36 | Yan 2020 (12) | Chinese | –*9 | – | – | 0.43*10 | – | – | c.800C>T, hom | 306 | 638 | 69 | 204.6 | 164.7 | 36.8 | 400.4 | – | – |
| 37 | Yan 2020 (12) | Chinese | –*9 | – | – | 1.80*10 | – | – | c.800C>T, hom | 81 | 96 | 270 | 92 | 68.2 | 45.2 | 188.7 | 31.3 | – |
| 38 | Yan 2020 (12) | Chinese | –*9 | – | – | 2.67*10 | – | – | c.800C>T, hom | 49 | 72 | 166.1 | 74.3 | 61.6 | 39 | 114 | 34.6 | – |
| 39 | Yan 2020 (12) | Chinese | –*9 | – | – | 2.67*10 | – | – | c.800C>T, hom | 21 | 29 | 28 | 8.8 | 3.3 | 38.8 | 135.7 | 21 | – |
| 40 | Yan 2020 (12) | Chinese | –*9 | – | – | 4.00*10 | – | – | c.800C>T, hom | 29 | 34 | – | – | – | – | 185.84 | 38.98 | – |
| 41 | Yan 2020 (12) | Chinese | –*9 | – | – | 0.93*10 | – | – | c.800C>T, hom | 33 | 59 | – | 63.9 | 11.8 | 34.9 | 94.4 | 56.1 | – |
| 42 | Yan 2020 (12) | Chinese | –*9 | – | – | 0.47*10 | – | – | c.800C>T, hom | – | 55 | 136 | 139.7 | 20.1 | – | 166.5 | – | – |
| 43 | Yan 2020 (12) | Chinese | –*9 | – | – | 6.20*10 | – | Development retardation | c.800C>T, hom | 22 | 52.7 | – | 4.8 | 1.7 | 42.5 | 194 | 40.99 | – |
| 44 | Yan 2020 (12) | Chinese | –*9 | – | – | 1.07*10 | – | – | c.800C>T, hom | 28 | 29 | 50 | 101.8 | 18.7 | 36.3 | 118.5 | – | – |
| 45 | Yan 2020 (12) | Chinese | –*9 | – | – | 0.80*10 | – | – | c.800C>T, hom | 13 | 19 | 175 | 168 | 21.9 | 36.7 | 149.3 | – | – |
| 46 | Yan 2020 (12) | Chinese | –*9 | – | – | 0.50*10 | – | – | c.800C>T, hom | 17 | 33 | 47 | 130.8 | 30.7 | 35.4 | 232.1 | – | – |
| 47 | Yan 2020 (12) | Chinese | –*9 | – | – | 1.80*10 | – | Development retardation | c.800C>T, hom | 35 | 44 | 326 | 76.4 | 10.9 | 37.3 | 232.7 | – | – |
| 48 | Yan 2020 (12) | Chinese | –*9 | – | – | 0.60*10 | – | – | c.800C>T, hom | 131 | 101 | 72 | 115.9 | 76.9 | 38 | 129.6 | 4.15 | – |
| 49 | Yan 2020 (12) | Chinese | –*9 | – | – | 0.03*10 | – | – | c.800C>T, hom | 10 | 61 | 345 | 160.4 | 58.8 | – | 53.5 | – | |
| 50 | Yan 2020 (12) | Chinese | –*9 | – | – | 0.53*10 | – | – | c.800C>T, hom | 26 | 48 | 226 | 51.2 | 34.3 | 33.3 | 170.4 | 22.99 | – |
| 51 | Yan 2020 (12) | Chinese | –*9 | – | – | 0.43*10 | – | – | c.800C>T, hom | 38 | 59 | 229 | 47.4 | 13 | 36.8 | 234.6 | 63.67 | – |
| 52 | Yan 2020 (12) | Chinese | –*9 | – | – | 12.50*10 | – | – | c.800C>T and c.682-683del,het | 14 | 44 | 13 | 5.2 | 2.5 | 44.6 | 163 | 28.51 | – |
| 53 | Yan 2020 (12) | Chinese | –*9 | – | – | 0.87*10 | – | – | c.800C>T and c.263T>C, het | 13 | 40 | – | 23.1 | 8.5 | 36 | 106.92 | – | – |
| 54 | Yan 2020 (12) | Chinese | –*9 | – | – | 23.90*10 | – | – | c.800C>T, hom | 26 | 55 | – | 11.4 | 3.7 | 46.8 | 230.34 | – | – |
| 55 | Yan 2020 (12) | Chinese | –*9 | – | – | 9.87*10 | – | – | c.800C>T, hom | – | 88 | – | – | – | – | 144.77 | – | – |
| 56 | Yan 2020 (12) | Chinese | –*9 | – | – | 2.47*10 | – | – | c.800C>T, hom | 24 | 36 | 66 | 7.4 | 2.2 | 40.7 | 161 | – | – |
| 57 | Yan 2020 (12) | Chinese | –*9 | – | – | 48.57*10 | – | – | c.800C>T, hom | 17 | 25 | 12 | 8.6 | 3.1 | 45.1 | 190.9 | – | – |
| 58 | Yan 2020 (12) | Chinese | –*9 | – | – | 150.87*10 | – | – | c.800C>T, hom | 17 | 20 | 15 | 10.2 | 4.3 | 50 | 108 | – | – |
| 59 | Yan 2020 (12) | Chinese | –*9 | – | – | 233.33*10 | – | – | c.800C>T, hom | 16 | 15 | 16 | 14.6 | 4.4 | 47.1 | 9.54 | – | +*7 |
| 60 | Yan 2020 (12) | Chinese | –*9 | – | – | 173.90*10 | – | – | c.800C>T, hom | 5 | 16 | 13 | 31 | 12.9 | 46.7 | 138 | – | +*8 |
*1, the initial value was 13 nmol/L; *2, the initial value was 44 nmol/L; *3, the older sister was diagnosed with alkaptonuria; *4, the mother has NTCP deficiency; *5, the father and uncle have NTCP deficiency; *6, the father has NTCP deficiency; *7, the sister of P58; *8, the sister of P54; *9, the sex of each patient was not given, but the total ratio was offered for P28–P60; *10, the age of the first recorded hypercholanemia was listed as the admitted age. AA, admitted age; AW, admitted weight; GA, gestational age; BW, birth weight; ALT: alanine aminotransferase (normal range, 0–49 U/L); AST, aspartate aminotransferase (normal range, 0–40 U/L); GGT, γ-glutamyl transpeptidase (normal range, <38 U/L); TB, total bilirubin (normal range, 5 to 21 μmol/L); DB, direct bilirubin (normal range, <6.8 μmol/L); ALB, albumin (normal range, 38.0 to 54.0 g/L); TBA, total bile acid (normal range, 0 to 10 μmol/L); VD, 25-hydroxy vitamin D (normal range, 20 to 100 ng/mL; 50 to 250 μmol/L); NH3, blood ammonia (normal range, 5.88–35.3 μmol/L).