Crigler-Najjar Syndrome

This rare inherited syndrome is characterized by a lack of glucuronyl.

See also liver structure and function and assessment of patients with liver disease.)

This rare inherited syndrome is characterized by a lack of glucuronyl. See also liver structure and function and assessment of patients with liver disease.) Patients with autosomal recessive type I disease (complete) have a severe hyperbilirubinemia. They usually die from the effects of kernicterus at the age of about one year, some experience adulthood. For treatment include phototherapy and a liver transplant. (Variable penetrance) often have patients with autosomal dominant type II (partial) disease less severe hyperbilirubinemia (<20 mg / dL [<342 mol / L]) and usually live into adulthood without neurological damage. Phenobarbital 1.5 to 2 mg / kg p.o. 3 times a day, which induces the partially deficient glucuronyl, can be effective.

Health Life Media Team

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