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

被引:11
作者
Eminoglu, Tuba Fatma [1 ]
Polat, Emine [2 ]
Gokce, Selim [3 ]
Ezgu, Fatih Suheyl [4 ]
Senel, Saliha [2 ]
Apaydin, Sema [5 ]
机构
[1] Dr Sami Ulus Child Hlth & Dis & Matern Hosp, Dept Pediat Metab & Nutr, Ankara, Turkey
[2] Dr Sami Ulus Child Hlth & Dis & Matern Hosp, Dept Pediat, Ankara, Turkey
[3] Dr Sami Ulus Child Hlth & Dis & Matern Hosp, Dept Pediat Gastroenterol, Ankara, Turkey
[4] Gazi Univ, Fac Med, Div Genet & Mol Diag, Dept Pediat Metab, Ankara, Turkey
[5] Dr Sami Ulus Child Hlth & Dis & Matern Hosp, Dept Pathol, Ankara, Turkey
关键词
Cystic fibrosis; Neonatal cholestasis; New mutation; LIVER-DISEASE; RISK-FACTORS;
D O I
10.1007/s12098-012-0842-5
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
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.
引用
收藏
页码:502 / 504
页数:3
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