Rare Diseases Symptoms Automatic Extraction

[Liver disease associated with hereditary defects of hepatobiliary transporters].

[benign recurrent intrahepatic cholestasis]

The identification of biliary tranporters has enhanced our understanding of bile formation and some liver diseases. In this review, we first describe the main hepatobiliary transporters and their function. Then, some liver diseases related to mutations of biliary tranporters (FIC1/ATP8B1, BSEP/ABCB11, MDR3 /ABCB4 and MRP2/ABCC2) will be described with a focus on the pathological aspects. These diseases include progressive familial intrahepatic cholestasis (PFIC), benign recurrent intrahepatic cholestasis (BRIC), intrahepatic cholestasis of pregnancy, Dubin-Johnson's syndrome and low phospholipid associated cholelithiasis (LPAC).

Diseases presenting "liver diseases" symptom

  • benign recurrent intrahepatic cholestasis
  • cholangiocarcinoma
  • locked-in syndrome
  • phenylketonuria
  • primary hyperoxaluria type 1

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