UNLABELLED: The etiology of biliary atresia (BA) is unknown. Given that patterns of anomalies might provide etiopathogenetic clues, we used data from the North American Childhood Liver Disease Research and Education Network to analyze patterns of anomalies in infants with BA. In all, 289 infants who were enrolled in the prospective database prior to surgery at any of 15 participating centers were evaluated. Group 1 was nonsyndromic, isolated BA (without major malformations) (n = 242, 84%), Group 2 was BA and at least one malformation considered major as defined by the National Birth Defects Prevention Study but without laterality defects (n = 17, 6%). Group 3 was syndromic, with laterality defects (n = 30, 10%). In the population as a whole, anomalies (either major or minor) were most prevalent in the cardiovascular (16%) and gastrointestinal (14%) systems. Group 3 patients accounted for the majority of subjects with cardiac, gastrointestinal, and splenic anomalies. Group 2 subjects also frequently displayed cardiovascular (71%) and gastrointestinal (24%) anomalies; interestingly, this group had genitourinary anomalies more frequently (47%) compared to Group 3 subjects (10%). CONCLUSION: This study identified a group of BA (Group 2) that differed from the classical syndromic and nonsyndromic groups and that was defined by multiple malformations without laterality defects. Careful phenotyping of the patterns of anomalies may be critical to the interpretation of both genetic and environmental risk factors associated with BA, allowing new insight into pathogenesis and/or outcome.
UNLABELLED: The etiology of biliary atresia (BA) is unknown. Given that patterns of anomalies might provide etiopathogenetic clues, we used data from the North American Childhood Liver Disease Research and Education Network to analyze patterns of anomalies in infants with BA. In all, 289 infants who were enrolled in the prospective database prior to surgery at any of 15 participating centers were evaluated. Group 1 was nonsyndromic, isolated BA (without major malformations) (n = 242, 84%), Group 2 was BA and at least one malformation considered major as defined by the National Birth Defects Prevention Study but without laterality defects (n = 17, 6%). Group 3 was syndromic, with laterality defects (n = 30, 10%). In the population as a whole, anomalies (either major or minor) were most prevalent in the cardiovascular (16%) and gastrointestinal (14%) systems. Group 3 patients accounted for the majority of subjects with cardiac, gastrointestinal, and splenic anomalies. Group 2 subjects also frequently displayed cardiovascular (71%) and gastrointestinal (24%) anomalies; interestingly, this group had genitourinary anomalies more frequently (47%) compared to Group 3 subjects (10%). CONCLUSION: This study identified a group of BA (Group 2) that differed from the classical syndromic and nonsyndromic groups and that was defined by multiple malformations without laterality defects. Careful phenotyping of the patterns of anomalies may be critical to the interpretation of both genetic and environmental risk factors associated with BA, allowing new insight into pathogenesis and/or outcome.
Authors: Cara L Mack; Rebecca M Tucker; Brandy R Lu; Ronald J Sokol; Andrew P Fontenot; Yoshiyuki Ueno; Ronald G Gill Journal: Hepatology Date: 2006-11 Impact factor: 17.425
Authors: Marcello Napolitano; Stéphanie Franchi-Abella; Beatrice Maria Damasio; Thomas Angell Augdal; Fred Efraim Avni; Costanza Bruno; Kassa Darge; Damjana Ključevšek; Annemieke Simone Littooij; Luisa Lobo; Hans-Joachim Mentzel; Michael Riccabona; Samuel Stafrace; Seema Toso; Magdalena Maria Woźniak; Giovanni Di Leo; Francesco Sardanelli; Lil-Sofie Ording Müller; Philippe Petit Journal: Pediatr Radiol Date: 2021-05-11
Authors: Kevin E Bove; Andrew D Thrasher; Robert Anders; Catherine T Chung; Oscar W Cummings; Milton J Finegold; Laura Finn; Sarangarajan Ranganathan; Grace E Kim; Mark Lovell; Margret S Magid; Hector Melin-Aldana; Pierre Russo; Bahig Shehata; Larry Wang; Francis White; Zhen Chen; Catherine Spino; John C Magee Journal: Am J Surg Pathol Date: 2018-12 Impact factor: 6.394
Authors: Pierre Russo; John C Magee; Robert A Anders; Kevin E Bove; Catherine Chung; Oscar W Cummings; Milton J Finegold; Laura S Finn; Grace E Kim; Mark A Lovell; Margret S Magid; Hector Melin-Aldana; Sarangarajan Ranganathan; Bahig M Shehata; Larry L Wang; Frances V White; Zhen Chen; Catherine Spino Journal: Am J Surg Pathol Date: 2016-12 Impact factor: 6.394
Authors: Ellen A Tsai; Christopher M Grochowski; Alexandra M Falsey; Ramakrishnan Rajagopalan; Danielle Wendel; Marcella Devoto; Ian D Krantz; Kathleen M Loomes; Nancy B Spinner Journal: Hum Mutat Date: 2015-04-21 Impact factor: 4.878
Authors: Marcello Napolitano; Stéphanie Franchi-Abella; Maria Beatrice Damasio; Thomas A Augdal; Fred Efraim Avni; Costanza Bruno; Kassa Darge; Damjana Ključevšek; Annemieke S Littooij; Luisa Lobo; Hans-Joachim Mentzel; Michael Riccabona; Samuel Stafrace; Seema Toso; Magdalena Maria Woźniak; Gianni Di Leo; Francesco Sardanelli; Lil-Sofie Ording Müller; Philippe Petit Journal: Pediatr Radiol Date: 2020-11-17
Authors: Grzegorz T Gurda; Qingfeng Zhu; Haibo Bai; Duojia Pan; Kathleen B Schwarz; Robert A Anders Journal: Hum Pathol Date: 2014-01-23 Impact factor: 3.466