What are sign symptoms , investigations including genetic testing n management of Gilberts syndrome

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Gilbert's syndrome is an inherited condition that's often discovered by accident, such as when someone has a blood test. It occurs due to a defect in the processing of bilirubin by the liver.. The syndrome may cause the skin and the whites of the eyes to have a yellow tinge due to the build-up of bilirubin. In this genetic condition , that's passed down from your parents. It's caused by a mutation in the UGT1A1 gene. This mutation results in your body creating less bilirubin-UGT, an enzyme that breaks down bilirubin. Without proper amounts of this enzyme, your body can't process bilirubin .

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LIFELONG DISORDER .. DOES NOT REQUIRE .. ANY .. TREATMENT .. AND .. DOES .. NOT .. CREATE COMPLICATIONS .. INVESTIGATIONS .. BLOOD CBC .. URINE ROUTINE .. LFT .. USG..ABDOMEN ..

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Gilbert Syndrome cases are usually asymptomatic and they do not have any Signs or Symptoms. The combination of normal blood and liver function tests and elevated bilirubin levels is an indicator of Gilbert's syndrome. No other testing usually is needed, although genetic testing can confirm the diagnosis.

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Usually asymptomatic. Chronic mild Indirect hyperbilirubinemia is the key. No need of active treatment. Counseling is important.

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Apparently lifelong asymptomatic disorder with no specific treatment

Thanks Dr.kute Ankush, Dr.Dinesh Gupta, Dr. Sandeep Ghodeker, Dr. Pushker Bhomia ,Dr.Ramesh Patel
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Life long asymptotic disorder does not require any treatment except psychiatrist consuling & genetic counsling

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First of all u r looking in neonates or adult stage:gilbert syndrome. its an abscence of enzyme uridine diphosphoglucoronyl transferase deficiency. its an metabolic disorder of liver. unconjugated hyperbilirubinaemia is seen without haemolysis. clinical signs r jaundice. hereditary is seen. abscence of expression of gene UGT1A1 makes abscence of above enzyme. genotyping test can be done in families. in management: for neonates:phototherapy For adult: no specific treatment considered. they r at risk factor for formation of gallstones.

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NICELY DISCUSSED IN. DETAILS

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To check gene mutation

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