Cystic fibrosis presenting with neonatal cholestasis simulating biliary atresia in a patient with a novel mutation.
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.
Department of Pediatric Metabolism and Nutrition, Dr. Sami Ulus Child Health and Diseases & Maternity Hospital, Ankara, Turkey. tubaeminoglu@yahoo.com
Tuba Fatma
TF
Eminoglu
Emine
E
Polat
Selim
S
Gökçe
Fatih Süheyl
FS
Ezgü
Saliha
S
Senel
Sema
S
Apaydin
D001483:Base Sequence; D001656:Biliary Atresia / Q000175:diagnosis* / Q000235:genetics; D002779:Cholestasis / Q000175:diagnosis* / Q000235:genetics; D018389:Codon, Nonsense; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D003937:Diagnosis, Differential; D006801:Humans; D007223:Infant; D008099:Liver / Q000473:pathology*; D008297:Male; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction
C505032:CFTR protein, human; D018389:Codon, Nonsense; D019005:Cystic Fibrosis Transmembrane Conductance Regulator