Table 2. Clinical and pathological characteristics of the 11 BA cases with rare variants of the genes studied.
| Serial no. | Mutated gene | Sex | Initial bilirubin (DB/TB) (mg/dL) and serology |
Age a (d) | Jaundice clearance | Last follow-up age | Follow-up remarks |
|---|---|---|---|---|---|---|---|
| B2 |
JAG1
ABCC2 |
M | 10.57/11.41 CMV-IgG and IgM positive |
41 | Not improved | 6 mo (loss) | Early cirrhosis at 6 mo, lost to follow-up |
| B6 | UGT1A1 | M | 11.92/12.75 | 77 | Jaundice free | 13 y | Late portal hypertension and hypersplenism at 10 y, improved after splenic embolization |
| B7 b | JAG1 | F | 9.12/9.12 | 77 | Improved | 8 y | Late portal hypertension and esophageal varices, underwent transplantation at 9 y |
| B8 | MYO5B | M | 13.47/19.05 HBsAg positive |
149 | Not improved | 6 mo | Early cirrhosis, died of gram-negative sepsis |
| B52 | MYO5B | F | 11.25/14.48 | 120 | Jaundice free | 8 y | Late portal hypertension and hypersplenism |
| B67 | JAG1 | F | 13.03/13.85 | 178 | – | – | Operative death at postop day 22 due to massive ascites and gram-negative sepsis |
| B73 | RFX6 | M | 13.56/15.38 | 65 | Jaundice free | 5 y | Doing well |
| B80 | MLL2 | F | 18.73/19.36 CMV-IgG and IgM positive |
84 | Not improved | 8 mo | Died of respiratory syncytial virus associated pneumonia |
| B86 | ERCC4 | M | 6.21/7.95 | 54 | Not improved | 1 y (dead) | Early cirrhosis at 6 mo, lost to follow-up |
| B95 |
KCNH1,
JAG1 |
F | 16.29/16.80 Toxoplasma IgG positive |
123 | Not improved | 2 y | Portal hypertension, ascites |
| B101 | ABCB11 | F | 11.43/12.47 | 142 | Not improved | 1 y | Early cirrhosis at 6 mo |
Abbreviations: BA, biliary atresia; CMV, cytomegalovirus; DB, direct bilirubin; IgG, immunoglobulin G; IgM, immunoglobulin M; TB, total bilirubin.
Note: Age a ; age at operation date; B7 b , BA with associated congenital cardiac defects.