Lucey–Driscoll syndrome

autorecessive

Lucey–Driscoll syndrome is a rare genetic disorder characterized by severe neonatal jaundice and hyperbilirubinemia. This condition is typically observed in the first few days of life and is caused by a temporary deficiency in the enzyme uridine diphosphate glucuronosyltransferase (UGT1A1), which is crucial for the conjugation and subsequent elimination of bilirubin.

Presentation

Newborns with Lucey–Driscoll syndrome exhibit symptoms of jaundice, which is the yellowing of the skin and the whites of the eyes. This jaundice is due to elevated levels of unconjugated bilirubin in the blood. If left untreated, severe hyperbilirubinemia can lead to kernicterus, a form of brain damage.

Genetics

Lucey–Driscoll syndrome is inherited in an autosomal recessive manner. This means that both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Diagnosis

The diagnosis of Lucey–Driscoll syndrome is based on clinical findings and confirmed by genetic testing. Laboratory tests reveal elevated levels of unconjugated bilirubin, and genetic tests can identify mutations in the UGT1A1 gene.

Treatment

Treatment for Lucey–Driscoll syndrome primarily involves managing the symptoms of jaundice. This can include phototherapy, which uses light to break down bilirubin in the skin, and in severe cases, exchange transfusion may be necessary to rapidly reduce bilirubin levels.

Prognosis

With prompt and appropriate treatment, the prognosis for infants with Lucey–Driscoll syndrome is generally good. Most affected infants recover fully without long-term complications.

Related Pages

• Neonatal jaundice
• Hyperbilirubinemia
• Kernicterus
• Autosomal recessive disorder
• Phototherapy
• Exchange transfusion