Gilbert syndrome
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Gilbert syndrome is a hereditary condition which can result in jaundice.
Pathology
It is results in intermittent unconjugated hyperbilirubinemia in the absence of hepatocellular disease or haemolysis. Uridine diphosphate-glucuronyl transferase activity is reduced resulting in indirect hyperbilirubinemia.
Genetics
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 (UGT1A1) gene, specifically known as UGT1A1*28 1.
Treatment and prognosis
No treatment is required as Gilbert syndrome is a benign entity 1.
History and etymology
Gilbert syndrome was first described in 1901 by the French physician Nicolas Augustin Gilbert (1858-1927) 1,3.
-<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 is 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 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>