Table 2 Case series of 10 children with Alagille syndrome
From: Clinical and genetic analysis in Chinese children with Alagille syndrome
Patient | Age(m)/ Gender | Weight percentiles at birth | Organs involved | Liver function | TC (mmol/L) (3.36–5.69) | Liver biopsy | Genetic variation | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALT (U/L) (0–40) | AST (U/L) (5–34) | GGT (U/L) (9–64) | TBil (umol/l) (3.4–20.5) | DB (umol/l) (0–8.6) | TBA (umol/l) (0.5–10.0) | |||||||
1 | 1/F | 50th | cholestasis, hepatomegalyaortic dysplasia butterfly vertebraerenal parenchymal roughness | 137 | 154 | 177 | 146.8 | 120.6 | 99.5 | 6.11 | N | NOTCH2 |
2 | 2/M | < 3rd | cholestasis, hepatomegaly supravalvular aortic stenosis butterfly vertebrae facial features | 88 | 211 | 1139 | 127.7 | 104.3 | 105.4 | 6.25 | N | JAG1 |
3 | 2/M | < 3rd | cholestasis, hepatomegaly pulmonary artery stenosis facial features renal parenchymal roughness | 439 | 576 | 34 | 181.1 | 141.0 | 123.8 | 4.25 | intrahepatic bile duct paucity. giant cell hepatitis | JAG1 |
4 | 72/M | 10-25th | hepatic dysfunction facial features butterfly vertebrae hydronephrosis of the left kidney | 98 | 86 | 117 | 6.2 | 2.4 | 6.7 | 3.64 | N | JAG1 |
5 | 4/M | < 3rd | cholestasis, hepatomegaly atrial septal defect facial features | 54 | 117 | 613 | 160.7 | 135.3 | 481.2 | 7.48 | N | JAG1 |
6 | 3/M | 3-10th | cholestasis, hepatomegaly ventricular septal defect facial features epilepsy | 253 | 347 | 106 | 130.7 | 110.2 | 135.5 | 4.05 | N | JAG1 |
7 | 1/M | 50th | cholestasis, hepatomegaly pulmonary artery stenosis | 37 | 63 | 157 | 106.7 | 48.7 | 159.9 | 7.65 | ductular proliferation. lymphocytic infiltration in portal area;mild fibrosis; no bile plugs | JAG1 |
8 | 3/F | 50th | hepatic dysfunction facial features | 552 | 250 | 746 | 18.1 | 13.7 | 32.4 | 6.05 | N | JAG1 |
9 | 6/M | 25-50th | cholestasis, hepatomegaly facial features | 41 | 69 | 269 | 146.8 | 83.4 | 92.1 | 5.99 | N | JAG1 |
10 | 1/M | 50-75th | cholestasis, acholic stool Common bile duct dysplasia, pulmonary artery stenosis, butterfly vertebrae | 217 | 230 | 625 | 183.6 | 148.3 | 115.9 | 4.41 | N | JAG1 |