20 July 2021>: Articles
A Report of 2 Infant Siblings with Progressive Intrahepatic Familial Cholestasis Type 1 and a Novel Homozygous Mutation in the ATP8B1 Gene Treated with Partial External Biliary Diversion and Liver Transplant
Unusual clinical course, Unusual or unexpected effect of treatment, Rare disease, Congenital defects / diseases
Irena Jankowska A , Joanna Pawłowska A , Marek Szymczak B , Hor Ismail B , Dorota Broniszczak B , Joanna Cielecka-Kuszyk B , Piotr Socha A , Dorota Jarzębicka B* , Piotr Czubkowski ADOI: 10.12659/AJCR.932374
Am J Case Rep 2021; 22:e932374
Table 2. Patient 2. ATP8B1 NM_005603.4: C.2097+2T>C.
1 month of age | Before PEBD | 1 month after PEBD | 4 months after PEBD | 6 months after PEBD | 8 months after PEBD | 1 year after PEBD | 1.5 year after PEBD | 3.5 years after PEBD | ||
---|---|---|---|---|---|---|---|---|---|---|
Weight (kg) [percentile] | 4.49 [50c] | 6.0 [10c] | 6.6 [3–10c] | 7.14 [3c] | 7.32 [3c] | 8.5 [3–10c] | 8.9 [3–10c] | 11.2 [25–50c] | 16.5 [50–75c] | |
Height (cm) [percentile] | 55 [50c] | 64 [50c] | 65 [10c] | 70 [10–25c] | 72 [10c] | 72 [3c] | 78 [10c] | 79 [ | 97 [3–10c] | |
Pruritus () | – | ++++ | +/– | ++++ | ++++ | ++ | + | – | – | |
TB (mg/dl) | 13.74 | 31.5 | 18.59 | 26.2 | 26.3 | 2.07 | 1.8 | 0.63 | 0.5 | |
DB (mg/dl) | 6.68 | 27.4 | 14.54 | 24.2 | 25.8 | 1.87 | 1.6 | 0.46 | – | |
BA (mmol/l) | 143 | 428.5 | – | 145 | 332 | 65.9 | 58.7 | 8.1 | 7.2 | |
ALT (U/l) | 70 | 61 | 35 | 34 | 28 | 23 | 20 | 35 | 30 | |
AST (U/L) | 204 | 172 | 107 | 99 | 85 | 51 | 52 | 57 | 53 | |
GGTP (U/l) | 56 | 28 | 40 | 31 | 30 | 17 | 19 | 18 | 18 | |
Albumin (g/l) | 37.4 | 38 | ND | ND | 36.4 | 40.6 | 39.6 | ND | 40.4 | |
INR | 1.03 | 2.88 | 1.22 | 1.2 | 1.36 | 1.21 | 1.26 | 1.19 | 1.09 | |
Albumin: N 38–54 g/l; ALT: N * according Whitington []. |