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Gilbert syndrome is a phenotypic effect, mostly associated with increased blood bilirubin levels, but also sometimes 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.
Crigler-Najjar syndrome is the complete or near complete inactivity absence of UGT1A1 activity a more severe unconjugated hyperbilirubinemia compared to Gilbert Syndrome. [2] Dubin-Johnson syndrome and Rotor syndrome cause elevations in conjugated bilirubin. These conditions are caused by mutations in the enzymes which transport bilirubin in ...
Conjugated bilirubin, being water-soluble, is excreted through urine. Hence, dark urine tested bilirubin positive signifies conjugated hyperbilirubinemia. [3] A peripheral blood smear showing signs of haemolysis. Red blood cells are normally in a biconcave shape (round cells in this picture).
Jaundice, also known as icterus, is a yellowish or greenish pigmentation of the skin and sclera due to high bilirubin levels. [3] [6] Jaundice in adults is typically a sign indicating the presence of underlying diseases involving abnormal heme metabolism, liver dysfunction, or biliary-tract obstruction. [7]
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Rotor syndrome (also known as Rotor type hyperbilirubinemia) [2] is a rare cause of mixed direct (conjugated) and indirect (unconjugated) hyperbilirubinemia, relatively benign, autosomal recessive [3] bilirubin disorder characterized by non-hemolytic jaundice due to the chronic elevation of predominantly conjugated bilirubin. [2]
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In medicine, bilirubinuria is an abnormality in which conjugated bilirubin is detected in the urine. [1] The term "biliuria" is very similar, but more general. It refers to the presence of any bile pigment in the urine. Conjugated bilirubin is detected in urine at bilirubinemia of approximately 30-34 mmol/L or 2 mg/dL.