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

Abstract

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.

Advanced cystic fibrosis liver disease: Endovascular, endoscopic, radiologic, and surgical considerations

“…There is currently a lack of consensus regarding the clinical utility of liver biopsy in people with CFHBI due to the patchy nature of disease and its unknown impact on clinical care in CF. There are some specific clinical scenarios in which performing a liver biopsy in patients with aCFLD may be helpful to reveal specific features of CFLD phenotypes 6 or when a concomitant disease is highly suspected, such as autoimmune liver disease, chronic viral hepatitis, drug induced hepatotoxicity from CFTR modulators or other medications, or even biliary atresia in infants with CF 7‐9 . A liver biopsy can diagnose and confirm focal biliary fibrosis or multilobular cirrhosis, as well as distinguish from other forms of aCFLD, notably porto‐sinusoidal vascular disease (PSVD) disease which is often characterized by nodular regenerative hyperplasia (NRH), a common form of NCPH 10 .…”

“…aCFLD may be helpful to reveal specific features of CFLD phenotypes 6 or when a concomitant disease is highly suspected, such as autoimmune liver disease, chronic viral hepatitis, drug induced hepatotoxicity from CFTR modulators or other medications, or even biliary atresia in infants with CF. [7][8][9] A liver biopsy can diagnose and confirm focal biliary fibrosis or multilobular cirrhosis, as well as distinguish from other forms of aCFLD, notably porto-sinusoidal vascular disease (PSVD) disease which is often characterized by nodular regenerative hyperplasia (NRH), a common form of NCPH. 10 Similar to multilobular cirrhosis, PSVD also presents clinically with marked splenomegaly, large esophageal or gastric varices, and enlargement of the main portal vein.…”