Lucey–Driscoll syndrome
Lucey–Driscoll syndrome | |
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Other names | Transient familial neonatal hyperbilirubinemia |
Lucey–Driscoll syndrome has an autosomal recessive pattern of inheritance. | |
Specialty | DiseasesDB = 32677 |
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.
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.
Diagnosis[]
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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.[3]
References[]
- ^ "Lucey-Driscoll syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2017-08-27.
- ^ "Lucey-Driscoll syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program".
- ^ "Lucey-Driscoll syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program".
External links[]
- Online Mendelian Inheritance in Man (OMIM): 237900 - transient familial neonatal hyperbilirubinemia, breast feeding jaundice included
- Hepatology
- Autosomal recessive disorders
- Syndromes
- Heme metabolism disorders
- Genetic disorder stubs