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Hyperbilirubinemia is a clinical condition describing an elevation of blood bilirubin level due to the inability to properly metabolise or excrete bilirubin, a product of erythrocytes breakdown. In severe cases, it is manifested as jaundice, the yellowing of tissues like skin and the sclera when excess bilirubin deposits in them. [1]
Rotor type hyperbilirubinemia is a distinct yet similar disorder to Dubin–Johnson syndrome [1] – both diseases cause an increase in conjugated bilirubin, but Rotor syndrome differs in that it is a result of impaired hepatocellular storage of conjugated bilirubin that leaks into plasma causing hyperbilirubinemia.
Hereditary hyperbilirubinemia refers to a group of conditions where levels of bilirubin, a byproduct of red blood cell metabolism, are elevated in the blood due to a genetic cause. [1] Various mutations of enzymes in the liver cells, which breakdown bilirubin, cause varying elevated levels of bilirubin in the blood. [ 2 ]
Gilbert syndrome (GS) is a syndrome in which the liver of affected individuals processes bilirubin more slowly than the majority. [1] Many people never have symptoms. [1] Occasionally jaundice (a slight yellowish color of the skin or whites of the eyes) may occur. [1]
Pathological jaundice in newborns should be suspected when the serum bilirubin level rises by more than 5 mg/dL per day, serum bilirubin more than the physiological range, clinical jaundice more than 2 weeks, and conjugated bilirubin (dark urine staining clothes). Haemolytic jaundice is the commonest cause of pathological jaundice.
Kernicterus is a bilirubin-induced brain dysfunction. [1] The term was coined in 1904 by Christian Georg Schmorl.Bilirubin is a naturally occurring substance in the body of humans and many other animals, but it is neurotoxic when its concentration in the blood is too high, a condition known as hyperbilirubinemia.
This is an accepted version of this page This is the latest accepted revision, reviewed on 4 January 2025. Group of endocrine diseases characterized by high blood sugar levels This article is about the common insulin disorder. For the urine hyper-production disorder, see Diabetes insipidus. For other uses, see Diabetes (disambiguation). Medical condition Diabetes Universal blue circle symbol ...
Around 80 to 99% of people with Dubin–Johnson syndrome have jaundice, [3] [4] abnormal urinary color, biliary tract abnormality, and conjugated bilirubinemia. [4] Around 30 to 79% of people with the disorder have abnormality of the gastric mucosa. [4] Other rare symptoms include fever and fatigue. [3]