Lucey-Driscoll syndrome: Difference between revisions
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==Overview== | ==Overview== | ||
'''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]]. | '''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]]. | ||
==Historical Perspective== | |||
==Classification== | |||
==Pathophysiology== | |||
==Causes== | ==Causes== | ||
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 milk jaundice (breast-fed infants have higher bilirubin levels than formula-fed ones). | 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 milk jaundice (breast-fed infants have higher bilirubin levels than formula-fed ones). | ||
==Differentiating Lucey-Driscoll syndrome from Other Diseases== | |||
==Epidemiology and Demographics== | |||
==Risk Factors== | |||
==Screening== | |||
==Natural History, Complications, and Prognosis== | |||
===Natural History=== | |||
===Complications=== | |||
===Prognosis=== | |||
==Diagnosis== | |||
==Genetics== | ==Genetics== | ||
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<br clear="left"/> | <br clear="left"/> | ||
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. | 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. | ||
===Diagnostic Criteria=== | |||
===History and Symptoms=== | |||
===Physical Examination=== | |||
===Laboratory Findings=== | |||
===Imaging Findings=== | |||
===Other Diagnostic Studies=== | |||
==Treatment== | |||
===Medical Therapy=== | |||
===Surgery=== | |||
===Prevention=== | |||
==References== | |||
{{reflist|2}} | |||
==External Links== | ==External Links== | ||
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[[Category:Hepatology]] | [[Category:Hepatology]] | ||
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Latest revision as of 16:37, 19 July 2016
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
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.
Historical Perspective
Classification
Pathophysiology
Causes
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 milk jaundice (breast-fed infants have higher bilirubin levels than formula-fed ones).
Differentiating Lucey-Driscoll syndrome from Other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications, and Prognosis
Natural History
Complications
Prognosis
Diagnosis
Genetics
File:Autorecessive.svg
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.
Diagnostic Criteria
History and Symptoms
Physical Examination
Laboratory Findings
Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Prevention
References
External Links
- Online Mendelian Inheritance in Man (OMIM) 237900 - transient familial neonatal hyperbilirubinemia, breast feeding jaundice included
- Hyperbilirubinemia, Unconjugated at eMedicine
- Template:RareDiseases