Hereditary hyperbilirubinemia: Difference between revisions
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'''Hereditary hyperbilirubinemia''' refers to the condition where levels of [[bilirubin]] are elevated, for reasons that can be attributed to a [[metabolic disorder]]. |
'''Hereditary hyperbilirubinemia''' refers to the condition where levels of [[bilirubin]] are elevated, for reasons that can be attributed to a [[metabolic disorder]]. |
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An example is [[ |
An example is [[Crigler–Najjar syndrome]]. |
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==Symptoms== |
==Symptoms and signs== |
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[[UDP glucuronosyltransferase 1 family, polypeptide A1|UGT1A1]] [[Mutation|gene mutations]] causes the condition. As a result, there can be reduced functionality of the bilirubin-UGT [[enzyme]]. Eventually it causes [[Glucuronosyltransferase|unconjugated hyperbilirubinemia]] and [[jaundice]] as substance accumulates in the body due to the reduced ability of the enzyme.<ref>{{cite web|url=http://ghr.nlm.nih.gov/condition/crigler-najjar-syndrome|title=Crigler-Najjar syndrome|first=Genetics Home|last=Reference|website=Genetics Home Reference}}</ref> |
[[UDP glucuronosyltransferase 1 family, polypeptide A1|UGT1A1]] [[Mutation|gene mutations]] causes the condition. As a result, there can be reduced functionality of the bilirubin-UGT [[enzyme]]. Eventually it causes [[Glucuronosyltransferase|unconjugated hyperbilirubinemia]] and [[jaundice]] as substance accumulates in the body due to the reduced ability of the enzyme.<ref>{{cite web|url=http://ghr.nlm.nih.gov/condition/crigler-najjar-syndrome|title=Crigler-Najjar syndrome|first=Genetics Home|last=Reference|website=Genetics Home Reference}}</ref> |
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==Diagnosis== |
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{{Empty section|date=September 2017}} |
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==Management== |
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==References== |
==References== |
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{{reflist}} |
{{reflist}} |
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==Further reading== |
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* http://www.som.tulane.edu/classware/pathology/medical_pathology/New_for_99/liver_gb/sld017.htm |
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* {{cite journal |vauthors=Elferink RP, Ottenhoff R, Liefting W, de Haan J, Jansen PL |title=Hepatobiliary transport of glutathione and glutathione conjugate in rats with hereditary hyperbilirubinemia |journal=J. Clin. Invest. |volume=84 |issue=2 |pages=476–83 |date=August 1989 |pmid=2760197 |doi=10.1172/JCI114189 |pmc=548906}} |
* {{cite journal |vauthors=Elferink RP, Ottenhoff R, Liefting W, de Haan J, Jansen PL |title=Hepatobiliary transport of glutathione and glutathione conjugate in rats with hereditary hyperbilirubinemia |journal=J. Clin. Invest. |volume=84 |issue=2 |pages=476–83 |date=August 1989 |pmid=2760197 |doi=10.1172/JCI114189 |pmc=548906}} |
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== External links == |
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{{Medical resources |
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| DiseasesDB = |
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| ICD9 = {{ICD9|277.4}} |
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| MeshID = D006933 |
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{{Heme metabolism disorders}} |
{{Heme metabolism disorders}} |
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{{endocrine-disease-stub}} |
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Latest revision as of 19:29, 9 March 2022
| Hereditary hyperbilirubinemia | |
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| Bilirubin levels are increased by this condition | |
| Specialty | Endocrinology  |
Hereditary hyperbilirubinemia refers to the condition where levels of bilirubin are elevated, for reasons that can be attributed to a metabolic disorder.
An example is Crigler–Najjar syndrome.
Symptoms and signs
[edit]UGT1A1 gene mutations causes the condition. As a result, there can be reduced functionality of the bilirubin-UGT enzyme. Eventually it causes unconjugated hyperbilirubinemia and jaundice as substance accumulates in the body due to the reduced ability of the enzyme.[1]
Diagnosis
[edit]![[icon]](/https/en.wikipedia.org/wiki/File:Wiki_letter_w_cropped.svg){kind=small} | This section is empty. You can help by adding to it. (September 2017) |
Management
[edit] | This section is empty. You can help by adding to it. (September 2017) |
References
[edit]- ^ Reference, Genetics Home. "Crigler-Najjar syndrome". Genetics Home Reference.
Further reading
[edit]- Elferink RP, Ottenhoff R, Liefting W, de Haan J, Jansen PL (August 1989). "Hepatobiliary transport of glutathione and glutathione conjugate in rats with hereditary hyperbilirubinemia". J. Clin. Invest. 84 (2): 476–83. doi:10.1172/JCI114189. PMC 548906. PMID 2760197.
External links
[edit]
 | This genetic disorder article is a stub. You can help Wikipedia by expanding it. |
 | This article about an endocrine, nutritional, or metabolic disease is a stub. You can help Wikipedia by expanding it. |