Lucey–Driscoll syndrome

Lucey–Driscoll syndrome is an autosomal recessive metabolic disorder affecting enzymes involved in bilirubin metabolism.[1] It is one of several disorders classified as a transient familial neonatal unconjugated hyperbilirubinemia.

Lucey–Driscoll syndrome
Other namesTransient familial neonatal hyperbilirubinemia
Lucey–Driscoll syndrome has an autosomal recessive pattern of inheritance.
SpecialtyDiseasesDB = 32677

Signs and symptoms

Cause

The common cause is congenital, but it can also be caused by maternal steroids passed on through breast milk to the newborn. It is different from breast feeding-associated jaundice (breast-fed infants have higher bilirubin levels than formula-fed ones).

Genetics

A defect in the UGT1A1-gene, also linked to Crigler–Najjar syndrome and Gilbert's syndrome, is responsible for the congenital form of Lucey–Driscoll syndrome.

Treatment

Treatment is as per neonatal jaundice, and includes phototherapy and exchange transfusions. If left untreated, Lucey-Driscoll syndrome may lead to seizures, kernicterus, and even death.[2]

Once treated, most patients will have no additional complications.[2]

References
  1. "Lucey-Driscoll syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2017-08-27.
  2. "Lucey-Driscoll syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program".
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.