Table 1.
Overview of canalicular staining of MDR3, biliary phospholipid analysis, clinical symptoms, UDCA treatment and treatment response, cirrhotic status and outcomes in 38 patients with PFIC3, according to genotype classification.
| Patient | Canalicular MDR3 staining | Biliary PL (% of TBL) (N 19-24) | Age at first symptoms/at referral (yr) | Symptoms at first evaluation in referral center | Age at UDCA onset (yr) and response to UDCA | Age at cirrhosis (yr) | Age at first LT (yr) | Indication for LT | Age at last f/u or death (yr) | Status at last f/u |
|---|---|---|---|---|---|---|---|---|---|---|
| Severe genotype | ||||||||||
| Patients 1-11 (n = 11) |
NA = 5Negative = 6 | NA = 83.8 (2.7-4.5) | 0.7 (0.1-5.7) 2.8 (0.1-5.9) |
J = 5, TJ = 4, H = 10, S = 9, SD = 3, As = 2, P = 8 | 3.9 (0.3-7.1) NA = 3, Negative = 8 |
Cirrhosis = 11 (F4 = 6, PHT = 11) 5.7 (2.3-8.1) |
LT = 11 6.7 (2.3-10.3) |
Cirrhosis = 11 P = 2, HPS = 1 Re-LT = 4 |
28 (7.8-39.6) | Dead = 2 Alive = 9 |
| Moderate genotype | ||||||||||
| Patients 12-18 (n = 7) |
NA = 3 Decreased = 3 Absent = 1 |
NA = 2 7.3 (4.7-14.5) |
3.9 (0.7-17.6) 12.6 (0.7-17.9) |
J = 3, H = 5, S = 5, SD = 1, As = 1, P = 6, Bl = 2, EHL = 2, CHOL = 1, SPSD = 1, OCIC = 1 | 12.2 (4.2-17.9) NA = 1, Positive = 3, Partial = 2, Negative = 1 |
Cirrhosis = 6 (F4 = 5, PHT = 5) 8.1 (3.9-17.9) |
LT = 3 13.1 (9.8-30.8) |
Cirrhosis = 3 HCC = 1 Re-LT = 1 |
31.4 (10.3-42.9) | Dead = 0 Alive = 7 |
| Mild genotype | ||||||||||
| Patients 19-38 (n = 20) |
NA = 7 Normal = 5 Decreased = 6 Absent = 2 |
NA = 15 8.6 (4.4-13.2) |
1.1 (0.1-23.3) 3 (1-26.3) |
J = 3, TJ = 1, H = 16, S = 12, SD = 2, As = 2, P = 16, Bl = 1, EHL = 3, CHOL = 1, ICP = 1 | 2.6 (1.2-27.3) NA = 3, Positive = 1, Partial = 3, Negative = 1 |
Cirrhosis = 10 (F4 = 4, PHT = 9) 8.5 (1.6-51.4) |
LT = 4 11.1 (8.7-13.1) |
Cirrhosis = 4 Re-LT = 1 |
13.5 (3.8-53.8) | Dead = 1 Alive = 19 |
As, ascites; Bl, gastrointestinal bleeding due to portal hypertension; CHOL, cholecystectomy; EHL, extrahepatic biliary lithiasis; F4, cirrhosis at the pathological examination of liver sample allowing to establish the status of cirrhosis; f/u, follow-up; H, hepatomegaly; HCC, hepatocellular carcinoma; HPS, hepatopulmonary syndrome; ICP, intrahepatic cholestasis of pregnancy; J, jaundice; LT, liver transplantation; NA, not available or not applicable; OCIC, oral contraceptive induced cholestasis; P, pruritus; PL, phospholipids; PHT, portal hypertension; Re-LT, retransplantation; S, splenomegaly; SD, stool discoloration; SPSD, surgical portosystemic derivation; TBL, total biliary lipids; TJ, transient jaundice; UDCA, ursodeoxycholic acid.