ABCMdb

PMID: 21344347

Morotti RA, Suchy FJ, Magid MS
Progressive familial intrahepatic cholestasis (PFIC) type 1, 2, and 3: a review of the liver pathology findings.
Semin Liver Dis. 2011 Feb;31(1):3-10. Epub 2011 Feb 22., [PubMed]

Sentences

No. Mutations Sentence Comment

42 ABCB11 p.Asp482Gly elevated Normal Bile acid High High High Lipoprotein X Present Present Absent Albumin Low Usually normal Normal Biochemical tests, bile: Bile acid Low Low Normal Phospholipid Normal Normal Low *Patients with the D482G-BSEP mutation tend to survive to an older age without cirrhosis. Login to comment 92 ABCB11 p.Asp482Gly In a recent study, BSEP deficiency patients with the common European D482G mutation were reported to show giant cell hepatitis less frequently than patients with other mutations.11 Cholestasis is hepatocellular, frequently within ballooned hepatocytes, and canalicular. Login to comment 105 ABCB11 p.Asp482Gly ABCB11 p.Asp482Gly A recent study indicated that BSEP-deficiency patients with the D482G mutation survived to an older age, with slower progression of their disease.11 Therefore, presence of fibrosis/cirrhosis in earlier liver biopsies may be indicative of a more aggressive genotype (other than the D482G mutation). Login to comment 108 ABCB11 p.Asp482Gly ABCB11 p.Glu297Gly As reported by Strautnieks et al, canalicular BSEP is not detectable by IHC in cases with protein-truncating mutations.12 With other mutations, such as single copy of the E297G and D482G, the BSEP expression varies from absent to abnormal to present/ normal. Login to comment