Pathology - Congenital Hyperbilirubinemias
Cause of Gilbert Syndrome: Autosomal dominant disease causing reduced UDP-glucuronyl transferase activity and diminished bilirubin absorption by the liver. Symptoms and signs. Typically without symptoms, with just some yellowing of the white part of the eyes, possibly brought on by stress. Unconjugated hyperbilirubinemia Treatment: Reassurance: typically follows a harmless path Crigler-Najjar Syndrome Type I and Type II Cause: Conditions can be either autosomal recessive (type I) or autosomal dominant with variable penetrance (type II), leading to a lack of UDP-glucuronyl transferase activity. Clinical features: Type I is more severe than type II, typically appears in early childhood with jaundice, kernicterus, CNS degeneration, and unconjugated hyperbilirubinemia. Treatment: Plasmapheresis and phototherapy for type I, phenobarbital for type II. Dubin-Johnson (D-J) Syndrome and Rotor Syndrome Cause: Autosomal recessive disorders caused by impaired bilirubin transport from the liver. Symptoms: Periodic yellowing of the skin; Pain in the upper right abdomen and upper middle abdomen; increased levels of conjugated bilirubin in the blood; slightly higher liver function tests; liver seeming black (Dubin-Johnson syndrome); Rotor syndrome is milder in comparison. Treatment: Providing reassurance; both D-J syndrome and Rotor syndrome have a mild course. Distinguish between hereditary hyperbilirubinemias and benign physiologic jaundice of the newborn (neonatal hyperbilirubinemia), which occurs in the first week of life due to elevated bilirubin production and a relative lack of UDP-glucuronyl transferase in the developing liver.
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