20 July 2021
: Case report 
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 Jankowska1ABCDEF, Joanna Pawłowska1ACDE, Marek Szymczak2BDE, Hor Ismail2BDE, Dorota Broniszczak2BDE, Joanna Cielecka-Kuszyk3BCE, Piotr Socha1ACDE, Dorota Jarzębicka1BDEF*, Piotr Czubkowski1ABCDEFDOI: 10.12659/AJCR.932374
Am J Case Rep 2021; 22:e932374
Table 3. Rescue procedure in PFIC 1 patients with diarrhea/steatosis after LTx.
| Autor | Number of patients after LTx | First procedure | Age at LT | Number of pts with steatosis | Second procedure | Follow-up |
|---|---|---|---|---|---|---|
| Miyagawa-Hayashino A. []6 | 11 | LDLTx and Roux-en-Y anastomosis | 1–18 years, median 4 years | 8 | 1 pts transitional biliary diversion (due to bile leakage) | Improvement during procedure (diarrhea disappeared) but returned after biliary reconstruction |
| Usui M. []7 | 1 | LDLTx | 1 | 1 | Re-transplantation (4 y after first surgery) with EBD | 10 months – without diarrhea |
| Nicastro E. []8 | 1 | LDLTx and Roux-en-Y anastomosis | 3.years | 1 | EBD 28 months after LDLTx | 6 months: – diarrhea disappeared and liver biopsy – improvement of steatosis |
| Alrabadi L.S. []9 | 2 | Cadaveric whole LTx with a Roux-en-Y -choledocho-jejunostomy | 26 m | 2 | EBD 38 months post-LTx | 6 months: resolution of macrovesicular steatosis (biopsy); improvement in diarrhea |
| Cadaveric donor LTx | 7 y | EBD 39 months post-LTx | 6 months: diarrhea improved, biopsy showed rare macrovesicular steatosis | |||
| EBD – external biliary diversion; LDLTx – living donor liver transplantation; LTx – liver transplantation. | ||||||