Related Experiment Videos
The biliary atresia splenic malformation syndrome: a 28-year single-center retrospective study
Mark Davenport1, Sarah A Tizzard, James Underhill
1Department of Paediatric Surgery, Kings College Hospital, Denmark Hill, London, UK. Mark.Davenport@kingsch.nhs.uk
Insights
Biliary atresia splenic malformation (BASM) is a distinct subgroup of infants with specific congenital anomalies. This condition impacts liver survival rates, highlighting its unique embryological origins.
Area of Science:
- Pediatric Surgery
- Developmental Biology
- Hepatology
Background:
- Biliary atresia splenic malformation (BASM) is a rare congenital condition affecting infants.
- Understanding the characteristics and outcomes of BASM is crucial for early diagnosis and management.
Purpose of the Study:
- To review and characterize infants diagnosed with biliary atresia splenic malformation (BASM).
- To analyze the clinical presentation, associated anomalies, and long-term outcomes in BASM patients.
- To determine if BASM represents a distinct subgroup with unique embryological origins.
Main Methods:
- Retrospective review of infant medical records from January 1977 to December 2004.
- Inclusion criteria applied to identify infants with BASM from a larger cohort.
- Analysis of clinical data, including sex, antenatal pathology, associated malformations, liver histology, HLA genotype, and survival rates.
Main Results:
- 56 infants (10.2%) met BASM criteria from 548 reviewed.
- Syndromic infants showed higher incidence of female sex and maternal diabetes.
- Situs inversus (37%) and cardiac abnormalities (45%) were common; no differences in liver histology or HLA genotype compared to non-syndromic infants.
- Five-year and 10-year native liver survival rates were 46% and 32%, respectively.
- Seven long-term survivors (>10 years) were anicteric.
Conclusions:
- BASM is a distinct subgroup of biliary atresia, likely originating during early embryogenesis.
- Associated anomalies like situs inversus and cardiac defects are frequent in BASM.
- Native liver survival in BASM is significantly impacted, underscoring the need for specialized care.
Abstract:
We carried out a retrospective review of infants with biliary atresia splenic malformation (BASM). We found that 56 infants (10.2%) met the criteria for inclusion from a series of 548 infants (from January 1977 to December 2004). Syndromic infants were more likely to be female (P = .04) and to have a higher incidence of antenatal pathology (specifically maternal diabetes; 12.5% vs 1.2%; P < .0001). Situs inversus was noted in 21 (37%) and cardiac abnormalities in 25 (45%) infants. There were no differences in liver histology (eg, degree of liver fibrosis) or in the HLA genotype between BASM and nonsyndromic infants. Five-year and 10-year estimated native liver survival were 46% and 32%, respectively. There were 7 long-term survivors with their native liver and a follow-up of more than 10 years; all were anicteric. BASM is a distinct subgroup, with an implied onset during the embryological phase of organ development.