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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 A

DOI: 10.12659/AJCR.932374

Am J Case Rep 2021; 22:e932374

Table 3. Rescue procedure in PFIC 1 patients with diarrhea/steatosis after LTx.

AutorNumber of patients after LTxFirst procedureAge at LTNumber of pts with steatosisSecond procedureFollow-up
Miyagawa-Hayashino A. []6 11LDLTx and Roux-en-Y anastomosis1–18 years, median 4 years81 pts transitional biliary diversion (due to bile leakage)Improvement during procedure (diarrhea disappeared) but returned after biliary reconstruction
Usui M. []7 1LDLTx11Re-transplantation (4 y after first surgery) with EBD10 months – without diarrhea
Nicastro E. []8 1LDLTx and Roux-en-Y anastomosis3.years1EBD 28 months after LDLTx6 months: – diarrhea disappeared and liver biopsy – improvement of steatosis
Alrabadi L.S. []9 2Cadaveric whole LTx with a Roux-en-Y -choledocho-jejunostomy26 m2EBD 38 months post-LTx6 months: resolution of macrovesicular steatosis (biopsy); improvement in diarrhea
Cadaveric donor LTx7 yEBD 39 months post-LTx6 months: diarrhea improved, biopsy showed rare macrovesicular steatosis
EBD – external biliary diversion; LDLTx – living donor liver transplantation; LTx – liver transplantation.

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923