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

Irena Jankowska; Joanna Pawłowska; Marek Szymczak; Hor Ismail; Dorota Broniszczak; Joanna Cielecka-Kuszyk; Piotr Socha; Dorota Jarzębicka; Piotr Czubkowski

doi:10.12659/AJCR.932374

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

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Figure 1. Liver biopsies after LTx – Case 1. (A) Mixed macro- and microvesicular steatosis (95%) and portal tract without fibrosis, without ductular proliferation (H&E staining). (B) Mixed macro- and microvesicular steatosis (70%), portal and periportal fibrosis without ductular proliferation (Azan staining). (C) Mixed macro- and microvesicular steatosis (40%), portal tract without fibrosis, without ductular proliferation, mild inflammatory infiltrates (H&E staining). (D) Mixed macro-and microvesicular steatosis (30%), fibrous septa, and mild inflammatory filtrates (H&E staining).

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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

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