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Rotor Syndrome

 Syn. Rotor type hyperbilirubinemia

Signs & Symptoms

 Benign #criteria
Ref: Uptodate [ Inherited disorders associated with conjugated hyperbilirubinemia] Harrison [ 2346] Epocrates [ Rotor syndrome]
Dark-colored urine #criteria
Ref: Uptodate [ Inherited disorders associated with conjugated hyperbilirubinemia] Harrison [ 2346] Epocrates [ Rotor syndrome]
Mild icter #criteria
Ref: Uptodate [ Inherited disorders associated with conjugated hyperbilirubinemia] Epocrates [ Rotor syndrome]
Pruritus (negative symptom) #criteria
Ref: Uptodate [ Inherited disorders associated with conjugated hyperbilirubinemia] Epocrates [ Rotor syndrome]

Physical Examination

 Icteric in sclera of the eyes #criteria
Ref: Uptodate [ Inherited disorders associated with conjugated hyperbilirubinemia] Epocrates [ Rotor syndrome]
Mild icter #criteria
Ref: Uptodate [ Inherited disorders associated with conjugated hyperbilirubinemia] Epocrates [ Rotor syndrome]
Yellow-orange discoloration #criteria
Ref: Uptodate [ Inherited disorders associated with conjugated hyperbilirubinemia] Epocrates [ Rotor syndrome]

Lab / Serology

 Asymptomatic jaundice #criteria
Ref: Uptodate [ Inherited disorders associated with conjugated hyperbilirubinemia] Epocrates [ Rotor syndrome]
Unique pattern of urinary excretion of coproporphyrins #criteria
Note: Urinary excertion of coproporphyrin increased by 2.5 - 5 times compered to normal amounts.
Ref: Uptodate [ Inherited disorders associated with conjugated hyperbilirubinemia] Harrison [ 2346] Epocrates [ Rotor syndrome]
Black liver (negative symptom)
Ref: Uptodate [ Inherited disorders associated with conjugated hyperbilirubinemia/approach to the patient with abnormal liver biochemical and function tests]

Imagin Study

Complication

Risk Factors

Cause

 Autosomal recessive disorder
Note: Defect in hepatic storage of conjugated bilirubin, which leaks into the plasma, resulting in hyperbilirubinemia
Ref: Uptodate [ Inherited disorders associated with conjugated hyperbilirubinemia] Harrison [ 279/2346] Epocrates [ Rotor syndrome]
Genetic disorder
Note: Defect in hepatic storage of conjugated bilirubin, which leaks into the plasma, resulting in hyperbilirubinemia
Ref: Uptodate [ Inherited disorders associated with conjugated hyperbilirubinemia] Harrison [ 279/2346] Epocrates [ Rotor syndrome]
Rare hereditary disorder
Note: Defect in hepatic storage of conjugated bilirubin, which leaks into the plasma, resulting in hyperbilirubinemia
Ref: Uptodate [ Inherited disorders associated with conjugated hyperbilirubinemia] Harrison [ 279/2346] Epocrates [ Rotor syndrome]

Other