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Lucey–Driscoll syndrome

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(Redirected from Hyperbilirubinemia transient familial neonatal) Medical condition
Lucey–Driscoll syndrome
Other namesTransient familial neonatal hyperbilirubinemia
Lucey–Driscoll syndrome has an autosomal recessive pattern of inheritance.
SpecialtyDiseasesDB = 32677

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

Signs and symptoms

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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.

Once treated, most patients will have no additional complications.

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".

External links

ClassificationD
External resources
Heme metabolism disorders
Porphyria,
hepatic and erythropoietic
(porphyrin)
early mitochondrial:
cytoplasmic:
late mitochondrial:
Hereditary hyperbilirubinemia
(bilirubin)
unconjugated:
conjugated:
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