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A benign form of mixed jaundice with conjugated
(50%) and unconjugated (50%) bilirubin. Normal hepatic function and
histology probably related to a defective binding and storage protein for
bilirubin in liver cells.
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Hyperbilirubinemia Rotor type.
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Benign, familial, unconjugated, nonhemolytic
hyperbilirubinemia. Jaundice caused by impaired excretion or storage of
conjugated bilirubin.
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Routine blood tests reveal conjugated
hyperbilirubinemia. Albumin, transaminases, alkaline phosphatase, and
prothrombin time are normal. Gross and microscopic examination of the liver
are normal. Bromosulphthalein transport is reduced. Elevated urinary
coproporphyrin is present.
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Benign hyperbilirubinemia of no clinical
importance. No identified precipitating factors. No specific treatment.
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Avoid halothane and drugs that can
displace bilirubin from albumin (e.g., cephalosporin).
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The hereditary hyperbilirubinemias include firstly those predominantly
unconjugated hyperbilirubinemia, i.e., Gilbert or Arias Syndrome,
Crigler-Najjar Syndrome type I, and Crigler-Najjar Syndrome type II, and
secondly those resulting in predominantly conjugated hyperbilirubinemia:
Dubin-Johnson Syndrome, Rotor Syndrome, and several forms of Intrahepatic
Cholestasis.
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Gilbert Syndrome: Characterized by
normal liver function tests of the usual type, normal liver histology,
delayed clearance of bilirubin from the blood, and mild jaundice that tends
to fluctuate in severity, particularly after fasting. This disorder is
difficult to distinguish from prolonged posthepatic hyperbilirubinemia.
Gilbert Syndrome is distinguished by the lack of morbidity in patients and
by a lower total serum bilirubin level, ranging from 1 to 6 mg/dL.
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Crigler-Najjar Syndrome presents in two
forms: Type I and Type II. Type I is characterized by a deficiency in
hepatic glucuronyltransferase activity. Hyperbilirubinemia is severe, with
total serum bilirubin levels ranging from 20 to 45 mg/dL most often
associated with kernicterus. Type I patients do not respond to phenobarbital
treatment and only traces of bilirubin glucuronides can be found in their
bile. It is inherited by autosomal recessive transmission. In type II, total serum
bilirubin ranges from 6 to 20 mg/dL and phenobarbital treatment lowers serum
bilirubin levels by more than 30%. Bilirubin glucuronides are present in
bile. Type II is less severe than type I.
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Dubin-Johnson Syndrome: Characterized by hyperbilirubinemia, deposition of
melanin-like pigment leading to hepatomegaly and abdominal pain, prolonged
retention of sulfobromophthalein (which may show a higher concentration at 60 to 90
minutes than at 45 minutes), and otherwise normal liver function. The
incidence is reported for the Iranian Jews to 1 per 1,300. Age at onset for
the jaundice varied from 10 weeks to 56 years. Penetrance is reduced in
females. Sixty-four of all cases reported were Iranian Jews. The inheritance
is consistent with autosomal recessive with reduced penetrance. Urinary
coproporphyrin I is a good indicator of the homozygote and heterozygote
states in the Dubin-Johnson Syndrome. Normal individuals excreted 24.8%
of urinary coproporphyrin as coproporphyrin I, whereas homozygotes and
heterozygotes excreted 88.9 and 31.6%, respectively. Factor VII
deficiency has been suggested in Japanese cases that were diagnosed in the
neonatal ...