crigler-najjar syndrome…

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liver anatomy, glucuronyl transferase deficiency, type i crigler-najjar, arias syndrome, type ii crigler-najjar, crigler-najjar syndrome, inherited disorder, bilirubin, a substance made by the liver, cannot be changed into its water-soluble form, bilirubin glucuronide, jaundice, yellow discoloration of skin, eyes, organ malfunctions, crigler-najjar syndrome, an abnormal gene which fails to produce a functional enzyme, bilirubin glucuronyltransferase, capable of converting bilirubin into a water-soluble, excreted form, bilirubin, build up, damage the brain, organs, syndrome is inherited, an autosomal recessive trait, that the child must get the defective gene from both parents to develop the severe form, parents who, carriers, one defective gene, half the enzyme activity of a normal adult, infants who inherit the trait from both parents, homozygous, the abnormal gene, develop severe jaundice, hyperbilirubinemia, beginning a few days after birth, infants, not treated, develop kernicterus, is bilirubin toxicity, the brain, fatal, in such infants, jaundice, persist into adult life, require daily treatment, constantly elevated levels of bilirubin, eventually produce an adult form of kernicterus, left untreated, severe infant-onset form, lead to death in childhood, milder forms, type ii, not associated, severe toxicity, liver damage, changes in thinking, childhood, individuals still have jaundice, have fewer symptoms, less organ damage, a family history of crigler-najjar syndrome, yellow skin, jaundice, eyes, icterus, begins on the 2nd, 3rd day of life, progressively worsens, jaundice that persists beyond 2 weeks of life, an obvious cause, confusion, changes in thinking, resulting from brain toxicity of bilirubin, tests, evaluate the liver function, unconjugated bilirubin in blood, would be highly elevated, total bilirubin level, would be high, conjugated bilirubin, would be low to absent, liver biopsy, enzyme assay, low-absent glucuronyl transferase activity, a family history of crigler-najjar syndrome, phototherapy is needed on an ongoing basis throughout life, in infants this, using bilirubin lights, bili, 'blue' lights, phototherapy becomes less successful after 4 years, thickened skin blocks the light, liver transplantation has been used successfully, people, type i disease, individuals who reach adulthood, develop kernicterus despite ongoing treatment, life expectancy, type i disease has been extended from death in childhood to people now living to at least age 30, complications, kernicterus, chronic yellow skin/eyes, seek genetic counseling, planning a pregnancy, family history of crigler-najjar, newborn infant has prolonged jaundice, genetic counseling, prospective parents, a family history of crigler-najjar syndrome, people who carry the gene, recognized by blood testing.