Severe obstructive biliopathy mimicking biliary atresia in an infant with cystic fibrosis

Huynh, Nguyen; Selvadurai, Hiran; Arbuckle, Susan; Cheah, Eric; Dutt, Shoma; Thomas, Gordon

doi:10.1111/jpc.15475

Cited by 1 publication

(1 citation statement)

References 11 publications

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“…Cholestasis in CF is due to the presence of defective CFTR proteins in the biliary ducts and has been documented in several patients to present solely with conjugated hyperbilirubinemia (2), but the incidence is as rare as 0.6% (3). Although cases of CF cholangiopathy have been mistaken for BA (4,5), we are confident that our patient was correctly diagnosed with BA given intraoperative findings of an atretic extrahepatic common bile duct. Findings on liver histology show intrahepatic bile duct reaction without paucity, overall consistent with biliary obstruction seen in BA (Fig.…”

Section: Discussionmentioning

confidence: 63%

Biliary Atresia and Rare Concurrent Cystic Fibrosis Variant: Case Report and Management Considerations

Ang¹,

Singh²,

Shaban³

et al. 2023

JPGN Reports

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It is uncommon for a patient to have 2 different diagnoses contributing to neonatal cholestasis and poor growth. We present a 2-month-old female with extrahepatic biliary atresia status after Kasai procedure at 4 weeks old presenting with persistent neonatal cholestasis. The patient was admitted for intolerance of oral feeds, concern for cholangitis and Kasai failure, and nutritional optimization. She was found to have genetic testing positive for 2 rare cystic fibrosis transmembrane conductance regulator mutations and pancreatic insufficiency consistent with a possible diagnosis of cystic fibrosis–related disease. We discuss the implications and management considerations in a patient with both biliary atresia and cystic fibrosis.

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Section: Discussionmentioning

confidence: 63%