Outcomes of Surgical Management of Familial Intrahepatic Cholestasis 1 and Bile Salt Export Protein Deficiencies

Autor: Richard J. Thompson, Giorgina Mieli-Vergani, Patricia McClean, Kaija-Leena Kolho, Jennifer L. Dodge, Irena Jankowska, Piotr Czubkowski, Ludmila Pawlikowska, Sami Wali, Florence Lacaille, Philip J. Rosenthal, Steven J. Lobritto, Vera Hupertz, Etienne Sokal, Karan M. Emerick, Sandra Strautnieks, Albertien M. van Eerde, Roderick H. J. Houwen, J A Byrne, Laura N. Bull, Peter F. Whitington, Catherine Wanty, Joanna Pawłowska, Samra Blanchard
Přispěvatelé: Children's Hospital, Clinicum, University of Helsinki, HUS Children and Adolescents
Jazyk: angličtina
Rok vydání: 2018
Předmět:
medicine.medical_specialty
Pancreatic disease
Cirrhosis
medicine.medical_treatment
Chronic Liver Disease and Cirrhosis
CHILDREN
Liver transplantation
PHENOTYPIC DIFFERENCES
Gastroenterology
Oral and gastrointestinal
PFIC2
03 medical and health sciences
Rare Diseases
0302 clinical medicine
Cholestasis
Clinical Research
Internal medicine
medicine
PUMP DEFICIENCY
ABCB11 MUTATIONS
ABCB11
EXTERNAL BILIARY DIVERSION
TYPE-1
Transplantation
Hepatology
business.industry
Liver Disease
INTRACTABLE PRURITUS
Progressive familial intrahepatic cholestasis
Original Articles
Organ Transplantation
ILEAL EXCLUSION
medicine.disease
LIVER-TRANSPLANTATION
3. Good health
030220 oncology & carcinogenesis
3121 General medicine
internal medicine and other clinical medicine
Original Article
030211 gastroenterology & hepatology
Digestive Diseases
business
Zdroj: Bull, L N, Pawlikowska, L, Strautnieks, S, Jankowska, I, Czubkowski, P, Dodge, J L, Emerick, K, Wanty, C, Wali, S, Blanchard, S, Lacaille, F, Byrne, J A, van Eerde, A M, Kolho, K-L, Houwen, R, Lobritto, S, Hupertz, V, McClean, P, Mieli-Vergani, G, Sokal, E, Rosenthal, P, Whitington, P F, Pawlowska, J & Thompson, R J 2018, ' Outcomes of surgical management of familial intrahepatic cholestasis 1 and bile salt export protein deficiencies ', Hepatology Communications, vol. 2, no. 5, pp. 515-528 . https://doi.org/10.1002/hep4.1168
Hepatology communications, 2(5), 515. Wiley-Blackwell Publishing Ltd
Hepatology communications, vol 2, iss 5
Hepatology Communications
ISSN: 2471-254X
DOI: 10.1002/hep4.1168
Popis: 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 patients; this is mainly due to extrahepatic manifestations. (Hepatology Communications 2018;2:515-528).
Databáze: OpenAIRE
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