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 1. Patient 1. ATP8B1 NM_005603.4: C.2097+2T>C.
6 weeks of age | 4 months of age | 7 months of age | 7 days after PEBD | 1 month after PEBD | 3 months after PEBD | 6 months after PEBD | 8 months after PEBD | ||
---|---|---|---|---|---|---|---|---|---|
Weight (kg) [percentile] | 4.5 [10–25c] | 5.6 [3c] | 6.67 [ | 6.77 [ | 6.8 [ | 7.8 [3–10c] | 9.1 [25c] | 9.3 [10–25c] | |
Height (cm) [percentile] | 57 [25c] | 59 [ | 62 [ | 62 [ | 63 [ | 73 [25–50c] | 74 [10c] | 75 [3–10c] | |
Diarrhea | – | – | – | – | – | – | – | – | |
Pruritus | – | +++ | ++++ | ++ | – | – | + | ++++ | |
TB (mg/dl) | 8.84 | 1.82 | 14.89 | 5.47 | 0.87 | 10.91 | 10.29 | 10.84 | |
DB (mg/dl) | 3.84 | 1.58 | 12.63 | 5.04 | ND | 9.82 | 9.41 | 9.89 | |
BA (mmol/l) | 94.5 | 278 | 395 | 25.1 | 7 | 196 | 189.5 | 90.2 | |
ALT (U/l) | 24 | 49 | 49 | 37 | 20 | 44 | 57 | 60 | |
AST (U/l) | 57 | 70 | 126 | 88 | 47 | 73 | 86 | 112 | |
GGTP (U/l) | 27 | 23 | 39 | 52 | 14 | 15 | 16 | 16 | |
Albumin (g/l) | 3.77 | ND | 3.72 | ND | ND | 4.16 | 4.03 | 3.19 | |
INR | ND | 1.34 | 1.41 | 1.36 | ND | 1.03 | 0.92 | 0.98 | |
Albumin: N 38–54 g/l; ALT: N * according Whitington []. | |||||||||
3 months after LTx | 6 months after LTx | 4 months | 7 months | 5 years after LTX | |||||
Weight (kg) [percentile] | 9.5 [3–10c] | 9.5 [ | 13.7 [25c] | 14.4 [25–50c] | 21 [25–50c] | ||||
Height (cm) [percentile] | 78 [3c] | 80 [ | 91 [3c] | 92 [3c] | 114.2 [10–25c] | ||||
Diarrhea | ++++ | +++++ | Relief from diarrhoea | ||||||
Pruritus | – | – | – | – | – | ||||
TB (mg/dl) | 0.33 | 0.31 | 0.73 | 0.61 | 0.88 | ||||
DB (mg/dl) | 0.18 | 0.16 | 0.31 | 0.29 | 0.41 | ||||
BA (mmol/l) | 31.1 | 17 | 3.2 | 3.4 | 3.2 | ||||
ALT (U/l) | 135 | 175 | 65 | 70 | 57 | ||||
AST (U/l) | 116 | 143 | 69 | 80 | 83 | ||||
GGTP (U/l) | 64 | 67 | 62 | 72 | 105 | ||||
Albumin (g/l) | 3.79 | 3.26 | 4.1 | 3.9 | 3.88 | ||||
INR | 1.17 | 1.13 | 1.31 | 1.64 | 1.26 | ||||
Albumin: N 38–54 g/l; ALT: N * according Whitington []. |