Study Clarifies How Biliary Atresia Overlaps With Multiple Congenital Syndromes

Biliary atresia (BA) represents 1 of nan starring causes of pediatric liver failure, often requiring surgical involution aliases transplantation successful early infancy. Although traditionally viewed arsenic an isolated disease, emerging grounds suggests shared familial and embryological origins pinch different congenital anomalies. The astir recognized illustration is BA splenic malformation syndrome (BASM), wherever BA co-occurs pinch spleen and laterality defects. Despite decades of investigation, nan molecular links betwixt BA and its syndromic forms stay elusive, highlighting nan request for deeper genomic exploration crossed populations.

A caller reappraisal published (DOI: 10.1136/wjps-2025-001040) successful World Journal of Pediatric Surgery connected June 8, 2025, by Prof. Mark Davenport from King's College Hospital, London, systematically analyzes nan syndromic variants of BA. Drawing connected world lawsuit studies and molecular evidence, nan study integrates objective observations pinch caller genomic insights to explain really BA overlaps pinch aggregate congenital syndromes, including BASM, Cat-Eye, Kabuki, and Hardikar syndromes. The activity provides 1 of nan astir extended summaries to day of really developmental cistron mutations and maternal factors whitethorn converge to style these uncommon but clinically important BA subtypes.

The study identifies BASM arsenic nan astir prevalent syndromic shape of BA, accounting for astir 10% of European and North American cases but little than 3% successful Asia. Hallmark features see polysplenia, situs inversus, and vascular anomalies specified arsenic a preduodenal portal vein. Genetic analyses item PKD1L1 arsenic a cardinal regulator of left-right asymmetry during embryogenesis, pinch further contributions from CFC1 and ZIC3 progressive successful nodal signaling and cardiac development. Environmental influences, specified arsenic maternal diabetes, further look to summation nan consequence of BASM and related anomalies.

Additional syndromic associations see Cat-Eye syndrome, linked to an other chromosome 22 fragment, and Kabuki syndrome, associated pinch KMT2D and KDM6A mutations affecting chromatin remodeling. Hardikar and Zimmermann-Laband syndromes, though rarer, show akin developmental intersections betwixt biliary, cardiac, and skeletal systems. Davenport emphasizes that while surgical outcomes for syndromic BA tin parallel isolated forms erstwhile cardiac defects are managed, familial and anatomical variability complicates treatment. The reappraisal concludes that BA represents not a azygous illness but a last communal pathway resulting from divers familial disruptions successful biliary development.

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Journal reference:

Davenport, M. (2025). Syndromic variants of biliary atresia. World Journal of Pediatric Surgery. doi: 10.1136/wjps-2025-001040. https://wjps.bmj.com/content/8/3/e001040