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Genetic Liver Diseases

Hyperbilirubinemia

Hyperbilirubinemia is a common medical condition in which abnormally high concentrations of bilirubin are found in the bloodstream, sometimes causing jaundice. In their first few days of life, more than half of all full-term babies and as many as four out of five premature infants who are otherwise healthy have elevated levels of bilirubin.

Bilirubin is a product of the liver's metabolism of worn-out red blood cells and is normally sent into the digestive system. When bilirubin is not properly processed, it builds up in the bloodstream and consequently the skin and the whites of the eyes take on a yellow tinge.

Diagnosis

Babies with this condition are sometimes sleepier than usual and in severe cases may be lethargic. Although yellow skin (or eyes) is a fairly good indicator, the diagnosis is made with a blood test to measure the bilirubin level.

Treatment

The standard treatment includes providing adequate fluids and light therapy, in which the baby spends time under a special blue light, which breaks down the bilirubin. Some cases may require a blood transfusion. The condition doesn't cause discomfort for the baby, and it usually disappears in one to two weeks. Babies with this condition stay in intensive care until their bilirubin level drops, usually in about two to three days.

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