Korean J Pediatr.  2007 Sep;50(9):835-840. 10.3345/kjp.2007.50.9.835.

The etiologies of neonatal cholestasis

• Ko JS
• Seo JK

• KMID: 2140811
• DOI: http://doi.org/10.3345/kjp.2007.50.9.835

Abstract

Any infant noted to be jaundiced at 2 weeks of age should be evaluated for cholestasis with measurement of total and direct serum bilirubin. With the insight into the clinical phenotype and the genotype-phenotype correlations, it is now possible to evaluate more precisely the neonate who presents with conjugated hyperbilirubinemia. Testing should be performed for the specific treatable causes of neonatal cholestasis, specifically sepsis, galactosemia, tyrosinemia, citrin deficiency and endocrine disorders. Biliary atresia must be excluded. Low levels of serum gamma-glutamyl transferase in the presence of cholestasis should suggest progressive familial intrahepatic cholestasis type 1, 2, or arthrogryposis- renal dysfunction-cholestasis syndrome. If the serum bile acid level is low, a bile acid synthetic defect should be considered. Molecular genetic testing and molecular-based diagnostic strategies are in evolution.

Keyword

Neonatal cholestasis; Genetic

MeSH Terms

Bile
Biliary Atresia
Bilirubin
Cholestasis*
Cholestasis, Intrahepatic
Galactosemias
Genetic Association Studies
Humans
Hyperbilirubinemia
Infant
Infant, Newborn
Molecular Biology
Phenotype
Sepsis
Transferases
Tyrosinemias
Bilirubin
Transferases