Abstract
Biliary atresia (BA) is an obliterative condition of the biliary tract that presents with persistent jaundice and pale stools typically in the first few weeks of life. While this phenotypic signature may be broadly similar by the time of presentation, it is likely that this is only the final common pathway with a number of possible preceding causative factors and disparate pathogenic mechanisms—i.e., aetiological heterogeneity. Certainly, there are distinguishable variants which suggest a higher degree of aetiological homogeneity such as the syndromic variants of biliary atresia splenic malformation or cat-eye syndrome, which implicate an early developmental mechanism. In others, the presence of synchronous viral infection also make this plausible as an aetiological agent though it is likely that disease onset is from the perinatal period. In the majority of cases, currently termed isolated BA, there are still too few clues as to aetiology or indeed pathogenesis.
Highlights
Biliary atresia (BA) is an obliterative condition of the biliary tract that presents with persistent jaundice, jaundice,pale palestools stoolsand and dark urine in the weeks life ifand, left undark urine in the firstfirst weeks of lifeofand, left if untreated, treated, leads toand cirrhosis andliver end-stage failure (Figurethis 1).unchallengedBeyond this leads to cirrhosis end-stage failureliver (Figure1)
Presents to the clinician reinforcing this aim of this chapter is to the spectrum as it presents to the clinician reinforcconcept of aetiological heterogeneity as a principle feature of the disease ing this concept of aetiological heterogeneity as a principle feature of the itself
We recognise two syndromes where BA is a key feature (Table 1). The commonest of these is the Biliary Atresia Splenic Malformation (BASM) syndrome, which accounts for about 10–15% of European and American series [11,12], but is distinctly rare in Chinese and Japanese series (
Summary
Biliary atresia (BA) is an obliterative condition of the biliary tract that presents with persistent jaundice, jaundice,pale palestools stoolsand and dark urine in the weeks life ifand, left undark urine in the firstfirst weeks of lifeofand, left if untreated, treated, leads toand cirrhosis andliver end-stage failure Much the rest are observational facts and hypothetical specustatement, much of the rest areof observational facts and hypothetical speculation. This is certainly theis case for itsthe aetiology its post-natal [1]. This certainly case for if itsnot aetiology if not itspathogenesis post-natal pathogenesis chapter is to review thereview spectrum of BA as of it BA presents to the clinician reinforcing this aim of this chapter is to the spectrum as it presents to the clinician reinforcconcept of aetiological heterogeneity as a principle feature of the disease ing this concept of aetiological heterogeneity as a principle feature of the itself
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