Back to Search Start Over

Outcomes of surgical management of familial intrahepatic cholestasis 1 and bile salt export protein deficiencies

Authors :
UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique
UCL - SSS/IREC/PEDI - Pôle de Pédiatrie
Bull, Laura N.
Pawlikowska, Ludmila
Strautnieks, Sandra
Jankowska, Irena
Czubkowski, Piotr
Dodge, Jennifer L.
Emerick, Karan
Wanty, Catherine
Wali, Sami
Blanchard, Samra
Lacaille, Florence
Byrne, Jane A.
van Eerde, Albertien M.
Kolho, Kaija-Leena
Houwen, Roderick
Lobritto, Steven
Hupertz, Vera
McClean, Patricia
Mieli-Vergani, Giorgina
Sokal, Etienne
Rosenthal, Philip
Whitington, Peter F.
Pawlowska, Joanna
Thompson, Richard J.
UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique
UCL - SSS/IREC/PEDI - Pôle de Pédiatrie
Bull, Laura N.
Pawlikowska, Ludmila
Strautnieks, Sandra
Jankowska, Irena
Czubkowski, Piotr
Dodge, Jennifer L.
Emerick, Karan
Wanty, Catherine
Wali, Sami
Blanchard, Samra
Lacaille, Florence
Byrne, Jane A.
van Eerde, Albertien M.
Kolho, Kaija-Leena
Houwen, Roderick
Lobritto, Steven
Hupertz, Vera
McClean, Patricia
Mieli-Vergani, Giorgina
Sokal, Etienne
Rosenthal, Philip
Whitington, Peter F.
Pawlowska, Joanna
Thompson, Richard J.
Source :
Hepatology Communications, Vol. 2, no.5, p. 515-528 (2018)
Publication Year :
2018

Abstract

Progressive familial intrahepatic cholestasis (PFIC) with normal circulating gamma-glutamyl transpeptidase levels can result from mutations in the ATP8B1 gene (encoding familial intrahepatic cholestasis 1 [FIC1] deficiency) or the ABCB11 gene (bile salt export protein [BSEP] deficiency). We investigated the outcomes of partial external biliary diversion, ileal exclusion, and liver transplantation in these two conditions. We conducted a retrospective multicenter study of 42 patients with FIC1 deficiency (FIC1 patients) and 60 patients with BSEP deficiency (BSEP patients) who had undergone one or more surgical procedures (57 diversions, 6 exclusions, and 57 transplants). For surgeries performed prior to transplantation, BSEP patients were divided into two groups, BSEP-common (bearing common missense mutations D482G or E297G, with likely residual function) and BSEP-other. We evaluated clinical and biochemical outcomes in these patients. Overall, diversion improved biochemical parameters, pruritus, and growth, with substantial variation in individual response. BSEP-common or FIC1 patients survived longer after diversion without developing cirrhosis, being listed for or undergoing liver transplantation, or dying, compared to BSEP-other patients. Transplantation resolved cholestasis in all groups. However, FIC1 patients commonly developed hepatic steatosis, diarrhea, and/or pancreatic disease after transplant accompanied by biochemical abnormalities and often had continued poor growth. In BSEP patients with impaired growth, this generally improved after transplantation. Conclusion: Diversion can improve clinical and biochemical status in FIC1 and BSEP deficiencies, but outcomes differ depending on genetic etiology. For many patients, particularly BSEP-other, diversion is not a permanent solution and transplantation is required. Although transplantation resolves cholestasis in patients with FIC1 and BSEP deficiencies, the overall outcome remains unsatisfactory in many FIC1

Details

Database :
OAIster
Journal :
Hepatology Communications, Vol. 2, no.5, p. 515-528 (2018)
Notes :
Ndonga
Publication Type :
Electronic Resource
Accession number :
edsoai.on1130452823
Document Type :
Electronic Resource