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

Indian J Pediatr. 2013 Jun;80(6):502-4. doi: 10.1007/s12098-012-0842-5. Epub 2012 Jul 15.

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.

Publication types

  • Case Reports

MeSH terms

  • Base Sequence
  • Biliary Atresia / diagnosis*
  • Biliary Atresia / genetics
  • Cholestasis / diagnosis*
  • Cholestasis / genetics
  • Codon, Nonsense*
  • Cystic Fibrosis / diagnosis*
  • Cystic Fibrosis / genetics
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Diagnosis, Differential
  • Humans
  • Infant
  • Liver / pathology*
  • Male
  • Molecular Sequence Data
  • Polymerase Chain Reaction

Substances

  • CFTR protein, human
  • Codon, Nonsense
  • Cystic Fibrosis Transmembrane Conductance Regulator