Table 1 Summary of clinical and laboratory findings in individuals harbouring mutations in NR1H4.
From: Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis
Family 1 | Family 2 | |||
|---|---|---|---|---|
Patient 1 | Patient 2 | Patient 3 | Patient 4 | |
Sex | Female | Male | Female | Male |
Age at onset | 2 Weeks | 2 Weeks | 6 Weeks | Birth |
Age at initial evaluation | 20 Months | 7 Weeks | 6 Weeks | Birth |
Age at liver transplant | 22 Months | 4.4 Months | NA | NA |
Age at last evaluation | 10 Years | 15 Months | Died at 8 months | Died at 5 weeks |
Symptoms | Jaundice, FTT | Jaundice, FTT | Jaundice | Hydrops, IVH |
Liver biochemistry | Initial evaluation | Before OLT | Initial evaluation | Before OLT | Initial evaluation | Before death | Birth to death |
|---|---|---|---|---|---|---|---|
Direct bilirubin (nl <0.4 mg dl−1) | 11.5 | 14.1 | 11.8 | 16.5 | 9.2 | 15.7 | 0.2–13.5 |
AST (nl <80 U l−1) | 231 | 182 | 392 | 316 | 293 | 116 | 83–341 |
ALT (nl <80 U l−1) | 138 | 90 | 219 | 132 | 153 | 62 | 51–548 |
GGT (nl <2 years <100 U l−1; >2 years <60 U l−1) | 53 | 41 | 45 | 44 | 59 | 38 | (107*) |
AFP (nl 8–468 ng ml−1) | 716 | NM | 146,000 | 400,000 | NM | 139,000 | NM |
Coagulation parameters | |||||||
PT (nl 10.3–13.4 s) | 23.9 | 26 | 21.3 | 28.3 | 17.4 | 57.4 | † |
INR (nl 0.9–1.1) | 2.0 | 2.2 | 2.0 | 2.8 | 1.4 | 7.4 | 2.05† |
Factor V assay (79–127%) | 31 | NM | NM | NM | 45 | NM | NM |
Factor VII assay (51–116%) | 14 | NM | NM | NM | 32 | NM | NM |
