Two studies have tried to identify biomarkers to facilitate the diagnosis of biliary atresia (BA).
- JPGN 2012; 55: 366-69
- JPGN 2012; 55: 370-75
The first study looks at the serum of 24 patients with BA & 24 cholestatic controls. Several circulating microRNAs (miRNAs) were associated with BA. The miR-200b/429 cluster could correctly classify up to 85% of patients.
The second study took serum samples from 42 infants with BA, 38 infants with non-BA cholestasis, and 36 healthy controls. Using mass spectrometry and enzyme-linked immunosorbent assays, they identified a candidate biomarker, Apo C-II, which was down-regulated in BA samples compared to healthy controls, but relatively upregulated compared with cholestatic non-BA samples. The sensitivity of this model was 94% and the specificity was 92%.
Given the consequence of a missed diagnosis of BA, further work to identify biomarkers with even better sensitivity/specificity will be necessary to change current diagnostic algorithms.
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