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Скачать или смотреть 🧬 Rotor Syndrome Animation | USMLE Step 1 Biochemistry | Dr G Bhanu Prakash

  • Dr.G.Bhanu Prakash
  • 2025-07-08
  • 1602
🧬 Rotor Syndrome Animation | USMLE Step 1 Biochemistry | Dr G Bhanu Prakash
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Описание к видео 🧬 Rotor Syndrome Animation | USMLE Step 1 Biochemistry | Dr G Bhanu Prakash

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🧬 Rotor Syndrome Animation | USMLE Step 1 Biochemistry | Dr G Bhanu Prakash

Rotor syndrome is a benign autosomal recessive disorder involving impaired hepatic uptake and storage of conjugated bilirubin, resulting in chronic, mild conjugated (direct) hyperbilirubinemia without significant liver damage or hemolysis. It is frequently tested in USMLE Step 1 Biochemistry due to its relevance in bilirubin metabolism, and is often compared to Dubin-Johnson syndrome, though the two differ in key molecular and histological aspects.

The underlying defect in Rotor syndrome involves mutations in genes encoding organic anion transporting polypeptides (OATPs)—specifically OATP1B1 and OATP1B3, which are responsible for hepatic reuptake of conjugated bilirubin from the blood into hepatocytes. Due to this defect, conjugated bilirubin leaks back into the plasma, leading to elevated direct bilirubin levels.

Clinically, Rotor syndrome presents with asymptomatic jaundice, typically first noticed during adolescence or early adulthood. Liver enzymes (AST, ALT, ALP) and synthetic liver function (albumin, INR) are normal. Unlike Dubin-Johnson syndrome, the liver in Rotor syndrome is not pigmented, and histology appears normal.

Biochemically, Rotor syndrome features:

Elevated total bilirubin, predominantly direct (conjugated)

Increased urinary excretion of coproporphyrin I (in contrast to normal coproporphyrin distribution in Dubin-Johnson)

Normal liver enzymes and liver histology

No treatment is required, as the condition is benign and does not progress to liver failure or other complications.

For USMLE Step 1, key points include understanding the role of OATP transporters, distinguishing Rotor from Dubin-Johnson syndrome (which involves defective MRP2 and causes black liver), and recognizing the isolated conjugated hyperbilirubinemia in the absence of hemolysis or liver damage.

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