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.[citation needed]
| Lucey–Driscoll syndrome | |
|---|---|
| Other names | Transient familial neonatal hyperbilirubinemia |
 | |
| Lucey–Driscoll syndrome has an autosomal recessive pattern of inheritance. | |
| Specialty | DiseasesDB = 32677 |
Signs and symptoms
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Cause
editThe 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).[citation needed]
Genetics
editA 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.[citation needed]
Diagnosis
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Treatment
editTreatment 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
edit- ^ "Lucey-Driscoll syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2017-08-27.
- ^ a b "Lucey-Driscoll syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program".
External links
edit- Online Mendelian Inheritance in Man (OMIM): 237900 - transient familial neonatal hyperbilirubinemia, breast feeding jaundice included
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