| The etiologies of neonatal cholestasis |
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Jae Sung Ko, Jeong Kee Seo |
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Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea |
| 신생아 담즙정체의 원인질환 |
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고재성, 서정기 |
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서울대학교 의과대학 소아과학교실 |
Correspondence:
Jeong Kee Seo, Email: jkseo@snu.ac.kr
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| Abstract |
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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 genotypephenotype 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. |
| Key Words:
Neonatal cholestasis, Genetic |
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