Biochemistry · Clinical Enzymology and Organ Function Tests (LFT, RFT, Cardiac/Pancreatic Enzymes)

A 22-year-old man has incidental bilirubin of 2.4 mg/dL, entirely indirect reacting. Hemogram, reticulocyte count, LDH, haptoglobin, AST, ALT and ALP are all normal. Urinalysis shows no bilirubin. Fasting for two days before a recent blood donation drive raised his bilirubin further. The MOST likely diagnosis is:

  • A Hereditary spherocytosis with compensated hemolysis
  • B Crigler-Najjar syndrome type II
  • C Gilbert syndrome
  • D Rotor syndrome
Correct answer: C. Gilbert syndrome

Explanation

Gilbert syndrome is a common benign condition with reduced hepatic UDP-glucuronosyltransferase activity, producing mild unconjugated hyperbilirubinemia, usually under 4 mg/dL, that worsens with fasting, illness or exertion. All other liver tests are normal and bilirubin is absent from urine because the pigment is unconjugated. Crigler-Najjar type II gives much higher levels, and hemolysis is excluded by the normal hemogram and LDH.

Reference: Robbins and Cotran Pathologic Basis of Disease, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

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