Abstract | PURPOSE: METHODS: Fifty patients presenting neonatal cholestasis were evaluated to identify underlying etiologies. Genetic analysis was performed on patients suspected to have syndromic diseases or ABCB11 spectrum liver disorders. Two families with proven ABCB11 spectrum liver disorders were subjected to genetic analyses to confirm the diagnosis and were provided genetic counseling. Whole exome sequencing and Sanger sequencing were performed on the patients and the family members. RESULTS: CONCLUSION: ABCB11 spectrum liver disorders can be clinically indistinguishable as they share similar characteristics related to acute episodes. A comprehensive genetic analysis will facilitate optimal diagnosis and treatment.
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Authors | Su Jeong Lee, Jung Eun Kim, Byung-Ho Choe, An Na Seo, Han-Ik Bae, Su-Kyeong Hwang |
Journal | Pediatric gastroenterology, hepatology & nutrition
(Pediatr Gastroenterol Hepatol Nutr)
Vol. 20
Issue 2
Pg. 114-123
(Jun 2017)
ISSN: 2234-8646 [Print] Korea (South) |
PMID | 28730136
(Publication Type: Journal Article)
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