Liver related syndromes

There are few liver related syndromes. These syndromes are the group of diseases found more than one at a time in a person. Few of these liver related syndromes are listed below:-

Gilbert’ syndrome

Often shortened to GS, also called Gilbert–Meulengracht syndrome, is a genetic liver disorder and the most common hereditary cause of increased bilirubin. A major characteristic feature is jaundice caused by elevated levels of unconjugated bilirubin in the bloodstream.Gilbert’s syndrome is a phenotypic effect, characterized by mild jaundice due to increased unconjugated bilirubin, that arises from several different genotypic variants of the gene for the enzyme responsible for changing bilirubin to the conjugated form. Gilbert’s syndrome is characterized by a reduction in the glucuronidation activity of the enzyme, uridine-diphosphate-glucuronosyltransferase isoform 1A1 (UDP-glucuronosyltransferase 1A1, or UGT1A1). The UGT1A1 gene is located on human chromosome 2. Levels of bilirubin in GS patients are reported to be from 20 μM to 90 μM (1.2 to 5.3 mg/dL)

Crigler-Najjar syndrome

The disorder results in an inherited form of non-hemolytic jaundice, which results in high levels of unconjugated bilirubin and often leads to brain damage in infants. This syndrome is divided into type I and type II, with the latter sometimes called Arias syndrome.

Type 1

Type 2

  • Inheritance is autosomal recessive
  • Serum bilirubin usually above 345  µmol/L
  • No UGT1A1 (UDP glucuronosyltransferase 1 family, polypeptide A1) expression can be detected in the hepatic tissue
  • These children died of kernicterus (bilirubin encephalopathy) or survived until early adulthood with clear neurological impairement.
  • Inheritance is autosomal recessive
  • Bilirubin levels are generally below 345 µmol/L
  •  UGT1A1 is present at reduced but detectable levels , because of single base pair mutations
  • Because of lower serum bilirubin kernicterus is rare

Dubin-Johnson syndrome

It is an autosomal recessive disorder that causes an increase of conjugated bilirubin in the serum without elevation of liver enzymes (ALT, AST). The conjugated hyperbilirubinemia is a result of defective endogenous and exogenous transfer of anionic conjugates from hepatocytes into the bile. Impaired biliary excretion of bilirubin glucuronides is due to a mutation in the canalicular multidrug resistance protein 2 (MRP2). A darkly pigmented liver is due to polymerized epinephrine metabolites, not bilirubin.

Rotor’s syndrome

Rotor syndrome has many things in common with Dubin–Johnson syndrome, an exception being that the liver cells are not pigmented. The main symptom is a non-itching jaundice. There is a rise in bilirubin in the patient’s serum, mainly of the conjugated type.

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