Cystic fibrosis presenting with neonatal cholestasis simulating biliary atresia in a patient with a novel mutation


Eminoglu T. F. , Polat E., Gökçe S., EZGÜ F. S. , Senel S. , Apaydin S.

Indian Journal of Pediatrics, vol.80, no.6, pp.502-504, 2013 (Journal Indexed in SCI Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 80 Issue: 6
  • Publication Date: 2013
  • Doi Number: 10.1007/s12098-012-0842-5
  • Title of Journal : Indian Journal of Pediatrics
  • Page Numbers: pp.502-504
  • Keywords: Cystic fibrosis, Neonatal cholestasis, New mutation

Abstract

Neonatal cholestasis is a rare presenting feature of cystic fibrosis which usually cannot be differentiated from other types of cholestasis. Herein, the authors report a 63 d-old boy with cystic fibrosis presenting with neonatal cholestasis mimicking biliary atresia. A new mutation in CFTR gene resulting in severe phenotype has been described. The cystic fibrosis patients with c.3871 G > T mutation may have acholic gaita mimicking biliary atresia in the absence of insipissated bile with minimal histologic findings in the liver. © 2012 Dr. K C Chaudhuri Foundation.