Cystic Fibrosis Presenting with Neonatal Cholestasis Simulating Biliary Atresia in a Patient with a Novel Mutation

EMİNOĞLU F. T., Polat E., Gokce S., EZGÜ F. S., Senel S., Apaydin S.

INDIAN JOURNAL OF PEDIATRICS, cilt.80, sa.6, ss.502-504, 2013 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 80 Sayı: 6
  • Basım Tarihi: 2013
  • Doi Numarası: 10.1007/s12098-012-0842-5
  • Dergi Adı: INDIAN JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.502-504
  • Anahtar Kelimeler: Cystic fibrosis, Neonatal cholestasis, New mutation, LIVER-DISEASE, RISK-FACTORS
  • Ankara Üniversitesi Adresli: Evet

Özet

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.