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A case report of Gilbert Syndrome.
S R Manandhar1, R L Gurubacharya, M R Baral
1Department of Paediatrics, Kathmandu Medical College Teaching Hospital, Sinamangal.
Kathmandu University Medical Journal (KUMJ)
|January 3, 2006
Summary
Gilbert syndrome is a common, inherited liver condition causing mild jaundice. It is usually harmless and often diagnosed in adolescence, triggered by stress or illness.
Area of Science:
- Hepatology
- Genetics
- Biochemistry
Background:
- Gilbert syndrome is a benign, familial condition affecting 3-7% of the U.S. population.
- Characterized by recurrent, asymptomatic mild unconjugated hyperbilirubinemia without hemolysis or liver disease.
- Typically manifests in adolescence, often exacerbated by stressors like illness, fasting, or exercise.
Observation:
- Patients commonly exhibit reduced UDP-Glucuronosyltransferase levels.
- Evidence suggests a concurrent defect in hepatic bilirubin uptake.
- This case highlights the condition's rarity and presentation.
Findings:
- Decreased UDP-Glucuronosyltransferase activity is a hallmark of Gilbert syndrome.
- Impaired hepatic bilirubin conjugation and potentially uptake contribute to hyperbilirubinemia.
- The syndrome is generally asymptomatic and does not progress to liver damage.
Implications:
- Understanding Gilbert syndrome's pathophysiology aids in accurate diagnosis and patient counseling.
- Recognizing triggers can help manage occasional symptomatic episodes.
- Further research into bilirubin metabolism and genetic factors is warranted.