Home Print this page Email this page Small font sizeDefault font sizeIncrease font size
Users Online: 206
About us Editorial board Search Ahead of print Current issue Archives Submit article Instructions Subscribe Contacts Advertise Login 
Year : 2016  |  Volume : 5  |  Issue : 2  |  Page : 112-114

Duodenal atresia and neonatal cholestasis in R117H cystic fibrosis

Department of Surgery (Pediatric Surgery), Rush University Medical Center, Chicago, IL, USA

Correspondence Address:
Jamie Harris
Department of Surgery (Pediatric Surgery), Rush University Medical Center, 1725 W. Harrison St. Suite 710, Chicago, IL 60612
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2249-4847.179911

Rights and Permissions

Cystic fibrosis (CF) has 20% associated rate of neonatal cholestasis. This presents in classic type CF, which initially can be confused with biliary atresia. Additionally, CF has been described with intestinal atresias but not duodenal atresia (DA). This is a case presentation highlighting a previously unreported presentation of R117H 5T CF mutation: A mutation that has recently been described and is not well-characterized. A retrospective review of single case was done. The newborn screen was sent per protocol. A 32 and 6/7 week gestation male was born with DA. Perinatal testing showed R117H mutation and 5T variant on separate chromosomes. His DA was repaired at 4 weeks of life. He had persistent jaundice, hepatobiliary iminodiacetic acid scan failed to identify the gallbladder, and raising concern for biliary atresia. At laparotomy, biliary tree was found to be normal on cholangiogram. Liver biopsy showed depleted interlobular bile ducts, with cholangiolar proliferation, consistent with CF induced cholestasis. This is an abnormal presentation for CF induced neonatal cholestasis and DA in the R117H 5T mutation that traditionally has been described as mild/atypical presentation of CF. Therefore, patients with this mutation who present with persistently elevated bilirubin should be evaluated for liver disease associated with CF.

Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
  Search Pubmed for
  Search in Google Scholar for
Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)

 Article Access Statistics
    PDF Downloaded220    
    Comments [Add]    
    Cited by others 1    

Recommend this journal