Cystic fibrosis presenting with neonatal cholestasis simulating biliary atresia in a patient with a novel mutation
Indian Journal of Pediatrics, cilt.80, sa.6, ss.502-504, 2013 (SCI-Expanded, Scopus)
- 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
- Ankara Yıldırım Beyazıt Üniversitesi Adresli: Hayır
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. © 2012 Dr. K C Chaudhuri Foundation.