Severe bile salt export pump (BSEP) deficiency is a hereditary cholestatic condition that starts in infancy and leads to end-stage liver disease. Three children who underwent orthotopic liver transplantation for severe BSEP deficiency had post-transplantation episodes of cholestatic dysfunction that mimicked the original disease. Remission of all episodes was achieved by intensifying the immunosuppressive regimen. The phenotypic recurrence of the disease correlated with the presence of circulating high-titer antibodies against BSEP that inhibit transport by BSEP in vitro. When administered to rats, these antibodies targeted the bile canaliculi and impaired bile acid secretion.
Source Information
From the Pediatric Liver Service (P.J., L.H., M.C.D., C.C., A.D.V., E.F., G.M.-B.), Research Unit (P.M.-F., L.A.), Service of Immunology (R.A.-D., F.Y.), Department of Pathology (J.L.), and Department of Pediatric Surgery (M.L.-S.), La Paz University Hospital, Madrid.
Drs. Jara, Hierro, and Martínez-Fernández contributed equally to this article.
Address reprint requests to Dr. Alvarez at the Research Unit, La Paz University Hospital-FIBHULP, Paseo de La Castellana 261, 28046 Madrid, Spain, or at luisalvarez.hulp{at}salud.madrid.org.
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