Lucey Driscoll Sendromu

lucey driscoll sendromu, Geçici ailevi neona­tal hiperbilirubinemi olarak da adlandırılan bu send­romda, hayatın 2-3. gününde başlayan sarılık, 2-3 hafta kadar devam edebilir ve kan değişimi yapabilecek düzeylere erişebilir. Nedeni tam bilinmemekle bera­ber, annede glukronil transferazı inhihe eden bir faktör bulunduğu üzerinde durulmaktadır. Bu faktör doğumdan sonra yavaş yavaş azalmaya başlar ve 14. günden sonra kaybolur.

Alternate Names :
Transient Familial Neonatal Hyperbilirubinemia

Definition :
Lucey-Driscol Syndrome is an inherited metabolic disorder characterized by severe hyperbilirubinemia (jaundice) that is present in the infant at birth.

Overview, Causes, & Risk Factors :
Lucey-Driscol syndrome is thought to be an autosomal recessive inherited disorder. There is an undetermined enzyme defect in the metabolism of bilirubin. Bilirubin accumulates and levels escalate rapidly. These high levels are toxic to the brain and can cause death.

Symptoms & Signs :
• jaundice (yellow skin) and icterus (yellow eyes) of the newborn
• lethargy of the newborn
• family history of this disorder
• if untreated, seizures and neurologic problems (kernicterus) may develop

Prevention :
Phototherapy can significantly prevent the potentially serious complications of this disorder.

Diagnosis & Tests :
Blood tests for bilirubin levels are used to confirm the severity of the jaundice.

Treatment :
Phototherapy (with blue light) is used to treat the high level of bilirubin. An exchange transfusion is sometimes necessary to treat this disorder.

Prognosis (Expectations) :
If treated, the outcome can be good. Untreated, severe complications develop because of the accumulation of bilirubin. As indicated by the name transient, this disorder tends to improve with time after the critical newborn period.

Complications :
Death or severe neurological deficits can occur if the condition is not treated.

Calling Your Health Care Provider :
Although this problem would most likely be noted immediately after delivery, call your doctor if you notice your baby's skin turning yellow. There are other causes for jaundice in the newborn that are easily treated.