P1 | P2 | P3 | P4 | P5 | P6 | P7 | |
---|---|---|---|---|---|---|---|
Age (months) | 31 | 16 | 8 | 4 | 26 | 7 | 6 |
Evolution | |||||||
Hepatomegaly | + | + | + | + | + | + | + |
Splenomegaly | + | + | + | + | + | + | + |
Developmental delay | + | + | − | − | − | + | − |
Cherry red spot | ND | ND | + | + | − | + | + |
Hypotonia | − | − | − | − | − | − | − |
Interstitial lung disease | + | − | − | − | − | − | − |
Biochemistry results | |||||||
Total bilirubin (μmol/L) | 7.3 | 20.3 | 33.3 | 100.4 | 13.7 | 8.7 | 10.9 |
Direct bilirubin (μmol/L) | 1.4 | 5.3 | 20.2 | 57.9 | 6.6 | 3.4 | 2.9 |
Alanine aminotransferase (U/L) | 31 | 63 | 118 | 20 | 121 | 239 | 54 |
Aspartate aminotransferase (U/L) | 57 | 103 | 368 | 214 | 126 | 230 | 210 |
γ-glutamyl transpeptidase (U/L) | 16 | 38 | 195 | 167 | 38 | 66 | 37 |
Total bile acid (μmol/L) | 7.8 | 2.4 | 92.6 | 329.5 | 6.9 | 10.9 | 27.2 |
HDL-C (mmol/L) | ND | 0.42 | 0.71 | ND | 0.67 | 0.74 | 0.72 |
Platelet (× 10^9/L) | 90 | 204 | 103 | 327 | 140 | 329 | 189 |
Foam cells in bone marrow | + | + | + | + | + | + | + |
Liver histologic studies | |||||||
Foam cells | + | + | + | + | + | + | + |
Cholestasis | − | − | − | + | − | − | − |
Activity grade | G0 | G0 | G0 | G1 | G0 | G1 | G0 |
Fibrosis stage | S1 | S3 | S3 | S2 | S2 | S2 | S1 |