Table 2.
Clinical and biochemical features and liver histology in PFIC1 and PFIC1-like patients.
| Features | Diagnostic findings of PFIC1 [% in PFIC1] | PFIC1 |
PFIC1-like |
||||||
|---|---|---|---|---|---|---|---|---|---|
| no.1 | no.2 | no.3d | no.4 | no.1e | no.2e | no.3f | no.4 | ||
| Presenting symptoms | |||||||||
| Age of onset | Before 1 year | 2 months | 4 months | 2 months | 2 months | 2 months | 3 months | 3 months | 6 months |
| Cholestasis | + [100%] | + | + | + | + | + | + | + | + |
| Jaundice | + [73%]a | + | + | + | + | + | + | + | + (resolved at 1y7m) |
| Intractable itching | + [100%]b | + | + | + | + | + | + | + | + |
| Diarrhea | + [61%]a | − | + | − | − | + | + | + | − |
| Steatorrhea | + [NA] | − | + | − | − | + | + | + | − |
| Sensorineural deafness | + [31%]a | − | − | − | − | − | − | − | + |
| Failure to thrive | + [90%]a | + | + | + | + | + | + | + | + |
| Short stature | + [NA] | + | + | + | + | + | + | + | + |
| Weight-for-height | > Normal [NA] | Normal | > Normal | > Normal | > Normal | > Normal | > Normal | Normal | > Normal |
| Mental retardation | + [NA] | − | + | + | + | + | + | − | ++ |
| Pneumonia | + [13%]a | − | − | − | − | − | − | + | − |
| Rickets | + [46%]a | − | + | + | + | + | − | − | − |
| Pancreatitis | + [12%]a | − | − | − | − | − | − | − | − |
| Serum assay | |||||||||
| AST, ALT | < 2 × Normalc [NA] | < 2 × Normal | > 2 × Normal | < 2 × Normal | < 2 × Normal | < 2 × Normal | < 2 × Normal | < 2 × Normal | > 2 × Normal |
| GGT | Low to normal [NA] | Normal | Normal | Low | Low | Low | Low | Low | Low |
| Total bilirubin | Elevated [NA] | Elevated | Elevated | Elevated | Elevated | Elevated | Elevated | Elevated | Elevated (returned to normal at 1y7m) |
| Total bile acid | Elevated [NA] | Elevated | Elevated | Elevated | Elevated | Elevated | Elevated | Elevated | Elevated |
| Liver histology | |||||||||
| Hepatocellular and canalicular cholestasis | +c [NA] | + | + | + | + | + | + | + | + |
| Giant transformation of hepatocytes | No or fewc [NA] | Few | No | No | No | No | No | No | No |
| Fibrosis | +c [NA] | − | + | + | + | + | + | + | + |
| Surgical procedure (age) | PEBD (4 months) | LDLTx (2 years 4 months) | PEBD (3 years 6 months) | PEBD (1 years 3 months) | − | − | PIBD (1 year 6 months) | − | |
LDLTx, living donor liver transplantation; NA, not available; PEBD, percutaneous external biliary drainage; PIBD, partial internal biliary diversion.
d
Numakura C et al., Pediatr Int. 2011 Feb; 53(1):107–10.
f
Mochizuki K et al., Pediatr Surg Int. 2012 Jan;28(1):51–4.