Lucey Driscoll Sendromu

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lucey driscoll sendromu, Geçici ailevi neona­tal hiperbilirubinemi olarak
da adlandirilan bu send­romda, hayatin 2-3. gününde baslayan sarilik, 2-3
hafta kadar devam edebilir ve kan degisimi yapabilecek düzeylere erisebilir.
Nedeni tam bilinmemekle bera­ber, annede glukronil transferazi inhihe eden
bir faktör bulundugu üzerinde durulmaktadir. Bu faktör dogumdan sonra yavas
yavas azalmaya baslar 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.