Gilbert syndrome
Disclosures
- updated 12 Apr 2023:
Nothing to disclose
Updates to Article Attributes
Body
was changed:
Gilbert syndrome is a hereditary condition which can result in jaundice.
Pathology
It results in intermittent unconjugated hyperbilirubinemiahyperbilirubinaemia in the absence of hepatocellular disease or haemolysis. Uridine diphosphate-glucuronyl transferase activity is reduced resulting in indirect hyperbilirubinemiahyperbilirubinaemia.
Genetics
It carries an autosomal dominantrecessive inheritance with incomplete penetrance. The most frequently observed genotype is a polymorphism of the promoter of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene, specifically known as UGT1A1*28 1.
Treatment and prognosis
No treatment is required as Gilbert syndrome is a benign entity1
History and etymology
Gilbert syndrome was first described in 1901 by the French physician Nicolas Augustin Gilbert (1858-1927) 1,33.
-<p><strong>Gilbert syndrome</strong> is a hereditary condition which can result in <a href="/articles/jaundice">jaundice</a>.</p><h4>Pathology</h4><p>It results in intermittent unconjugated hyperbilirubinemia in the absence of hepatocellular disease or haemolysis. Uridine diphosphate-glucuronyl transferase activity is reduced resulting in indirect hyperbilirubinemia. </p><h5>Genetics</h5><p>It carries an autosomal dominant inheritance with incomplete penetrance. The most frequently observed genotype is a polymorphism of the promoter of the UDP-glucuronosyltransferase 1A1 (<em>UGT1A1</em>) gene, specifically known as UGT1A1*28 <sup>1</sup>.</p><h4>Treatment and prognosis</h4><p>No treatment is required as Gilbert syndrome is a benign entity <sup>1</sup>.</p><h4>History and etymology</h4><p>Gilbert syndrome was first described in 1901 by the French physician <strong>Nicolas Augustin Gilbert </strong>(1858-1927) <sup>1,3</sup>.</p>- +<p><strong>Gilbert syndrome</strong> is a hereditary condition which can result in <a href="/articles/jaundice">jaundice</a>.</p><h4>Pathology</h4><p>It results in intermittent unconjugated hyperbilirubinaemia in the absence of hepatocellular disease or haemolysis. Uridine diphosphate-glucuronyl transferase activity is reduced resulting in indirect hyperbilirubinaemia. </p><h5>Genetics</h5><p>It carries an autosomal recessive inheritance with incomplete penetrance. The most frequently observed genotype is a polymorphism of the promoter of the UDP-glucuronosyltransferase 1A1 (<em>UGT1A1</em>) gene, specifically known as UGT1A1*28 <sup>1</sup>.</p><h4>Treatment and prognosis</h4><p>No treatment is required as Gilbert syndrome is a benign entity.</p><h4>History and etymology</h4><p>Gilbert syndrome was first described in 1901 by the French physician <strong>Nicolas Augustin Gilbert </strong>(1858-1927) <sup>3</sup>.</p>
References changed:
- 1. Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: 143500: Accessed 24/08/2023. <a href="https://omim.org/entry/143500">OMIM</a> <span class="ref_v4"></span>
- 2. Burchell B & Hume R. Molecular Genetic Basis of Gilbert's Syndrome. J Gastroenterol Hepatol. 1999;14(10):960-6. <a href="https://doi.org/10.1046/j.1440-1746.1999.01984.x">doi:10.1046/j.1440-1746.1999.01984.x</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/10530490">Pubmed</a>
- 3. Dorland. Dorland's Illustrated Medical Dictionary. (2011) ISBN: 9781416062578 - <a href="http://books.google.com/books?vid=ISBN9781416062578">Google Books</a>
- 1. Fretzayas A, Moustaki M, Liapi O, Karpathios T. Gilbert syndrome. (2012) European journal of pediatrics. 171 (1): 11-5. <a href="https://doi.org/10.1007/s00431-011-1641-0">doi:10.1007/s00431-011-1641-0</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/22160004">Pubmed</a> <span class="ref_v4"></span>
- 2. Burchell B, Hume R. Molecular genetic basis of Gilbert's syndrome. (1999) Journal of gastroenterology and hepatology. 14 (10): 960-6. <a href="https://www.ncbi.nlm.nih.gov/pubmed/10530490">Pubmed</a> <span class="ref_v4"></span>
- 3. Dorland. Dorland's Illustrated Medical Dictionary. (2011) <a href="https://books.google.co.uk/books?vid=ISBN9781416062578">ISBN: 9781416062578</a><span class="ref_v4"></span>
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