Clinical outcomes of surgical management for rare types of progressive familial intrahepatic cholestasis: a case series View Full Text


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Article Info

DATE

2022-01-13

AUTHORS

Kazunori Masahata, Takehisa Ueno, Kazuhiko Bessho, Tasuku Kodama, Ryo Tsukada, Ryuta Saka, Yuko Tazuke, Shuji Miyagawa, Hiroomi Okuyama

ABSTRACT

BackgroundProgressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of genetic autosomal recessive diseases that cause severe cholestasis, which progresses to cirrhosis and liver failure, in infancy or early childhood. We herein report the clinical outcomes of surgical management in patients with four types of PFIC.Case presentationSix patients diagnosed with PFIC who underwent surgical treatment between 1998 and 2020 at our institution were retrospectively assessed. Living-donor liver transplantation (LDLT) was performed in 5 patients with PFIC. The median age at LDLT was 4.8 (range: 1.9–11.4) years. One patient each with familial intrahepatic cholestasis 1 (FIC1) deficiency and bile salt export pump (BSEP) deficiency died after LDLT, and the four remaining patients, one each with deficiency of FIC1, BSEP, multidrug resistance protein 3 (MDR3), and tight junction protein 2 (TJP2), survived. One FIC1 deficiency recipient underwent LDLT secondary to deterioration of liver function, following infectious enteritis. Although he underwent LDLT accompanied by total external biliary diversion, the patient died because of PFIC-related complications. The other patient with FIC1 deficiency had intractable pruritus and underwent partial internal biliary diversion (PIBD) at 9.8 years of age, pruritus largely resolved after PIBD. One BSEP deficiency recipient, who had severe graft damage, experienced recurrence of cholestasis due to the development of antibodies against BSEP after LDLT, and eventually died due to graft failure. The other patient with BSEP deficiency recovered well after LDLT and there was no evidence of posttransplant recurrence of cholestasis. In contrast, recipients with MDR3 or TJP2 deficiency showed good courses and outcomes after LDLT.ConclusionsAlthough LDLT was considered an effective treatment for PFIC, the clinical courses and outcomes after LDLT were still inadequate in patients with FIC1 and BSEP deficiency. LDLT accompanied by total biliary diversion may not be as effective for patients with FIC1 deficiency. More... »

PAGES

10

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http://scigraph.springernature.com/pub.10.1186/s40792-022-01365-1

DOI

http://dx.doi.org/10.1186/s40792-022-01365-1

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https://app.dimensions.ai/details/publication/pub.1144633898

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/35024979


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