From: Clinical and genetic analysis in Chinese children with Alagille syndrome
Age (months) | 2.5(1–72) |
---|---|
Gender (n, %) | |
Male | 8(80%) |
Female | 2(20%) |
Clinical symptoms (n, %) | |
Hepatic features | 10(100%) |
Cardiac features | 7(70%) |
Facial features | 7(70%) |
Ocular features | 0(0) |
Skeletal features | 4(40%) |
Renal features | 3(30%) |
Hypercholesteremia | 6(60%) |
Small for gestational age | 4(40%) |
Epileptic seizure | 1 (10%) |
Liver function | |
Total bilirubin(umol/L) (normal, 3.4–20.5 umol/L), | 138.75(6.2–183.6) |
Direct bilirubin(umol/L) (normal, 0–8.6 umol/L) | 107.25(2.4–148.3) |
Total bile acid(umol/L) (normal, 0.5–10.0 umol/L) | 110.65(6.7–481.2) |
Gamma-glutamyltranspeptidase(U/L) (normal, 9–64 U/L) | 223(34–1139) |
Total cholesterol(mmol/L) (normal, 3.36–5.69 mmol/L) | 6.02(3.64–7.65) |
Genetic variation | |
JAG1 (n, %) | 9(90%) |
NOTCH2 (n, %) | 1(10%) |