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 resu...

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Bibliographic Details
Published in:Indian journal of pediatrics 2013-06, Vol.80 (6), p.502-504
Main Authors: Eminoglu, Tuba Fatma, Polat, Emine, Gökçe, Selim, Ezgü, Fatih Süheyl, Senel, Saliha, Apaydin, Sema
Format: Article
Language:English
Subjects:
Base Sequence
Biliary Atresia - diagnosis
Biliary Atresia - genetics
Biological and medical sciences
Cholestasis - diagnosis
Cholestasis - genetics
Clinical Brief
Codon, Nonsense
Cystic Fibrosis - diagnosis
Cystic Fibrosis - genetics
Cystic Fibrosis Transmembrane Conductance Regulator - genetics
Diagnosis, Differential
Errors of metabolism
Gastroenterology. Liver. Pancreas. Abdomen
General aspects
Gynecology
Humans
Infant
Liver - pathology
Liver. Biliary tract. Portal circulation. Exocrine pancreas
Male
Medical sciences
Medicine
Medicine & Public Health
Metabolic diseases
Miscellaneous hereditary metabolic disorders
Molecular Sequence Data
Other diseases. Semiology
Pediatrics
Polymerase Chain Reaction
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Description
Summary: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.
ISSN:0019-5456
0973-7693
DOI:10.1007/s12098-012-0842-5