• 1.

    Whitington PF, Freese DK, Alonso EM, Schwarzenberg SJ, Sharp HL. Clinical and biochemical findings in progressive familial intrahepatic cholestasis. J Pediatr Gastroenterol Nutr. 1994;18:134–41.

    CAS 
    Article 

    Google Scholar
     

  • 2.

    Morotti RA, Suchy FJ, Magid MS. Progressive familial intrahepatic cholestasis (PFIC) type 1, 2, and 3: a review of the liver pathology findings. Semin Liver Dis. 2011;31:3–10.

    CAS 
    Article 

    Google Scholar
     

  • 3.

    Paulusma CC, Folmer DE, Ho-Mok KS, de Waart DR, Hilarius PM, Verhoeven AJ, Oude Elferink RP. ATP8B1 requires an accessory protein for endoplasmic reticulum exit and plasma membrane lipid flippase activity. Hepatology. 2008;47:268–78.

    CAS 
    Article 

    Google Scholar
     

  • 4.

    Ujhazy P, Ortiz D, Misra S, Li S, Moseley J, Jones H, et al. Familial intrahepatic cholestasis 1: studies of localization and function. Hepatology. 2001;34:768–75.

    CAS 
    Article 

    Google Scholar
     

  • 5.

    Paulusma CC, Groen A, Kunne C, Ho-Mok KS, Spijkerboer AL, Rudi de Waart D, et al. Atp8b1 deficiency in mice reduces resistance of the canalicular membrane to hydrophobic bile salts and impairs bile salt transport. Hepatology. 2006;44:195–204.

    CAS 
    Article 

    Google Scholar
     

  • 6.

    Bull LN, van Eijk MJ, Pawlikowska L, DeYoung JA, Juijn JA, Liao M, et al. A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. Nat Genet. 1998;18:219–24.

    CAS 
    Article 

    Google Scholar
     

  • 7.

    van Mil SW, Klomp LW, Bull LN, Houwen RH. FIC1 disease: a spectrum of intrahepatic cholestatic disorders. Semin Liver Dis. 2001;21:535–44.

    Article 

    Google Scholar
     

  • 8.

    Lykavieris P, van Mil S, Cresteil D, Fabre M, Hadchouel M, Klomp L, et al. Progressive familial intrahepatic cholestasis type 1 and extrahepatic features: no catch-up of stature growth, exacerbation of diarrhea, and appearance of liver steatosis after liver transplantation. J Hepatol. 2003;39:447–52.

    Article 

    Google Scholar
     

  • 9.

    Strautnieks SS, Bull LN, Knisely AS, Kocoshis SA, Dahl N, Arnell H, et al. A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nat Genet. 1998;20:233–8.

    CAS 
    Article 

    Google Scholar
     

  • 10.

    Thompson R, Strautnieks S. BSEP: function and role in progressive familial intrahepatic cholestasis. Semin Liver Dis. 2001;21:545–50.

    CAS 
    Article 

    Google Scholar
     

  • 11.

    Deleuze JF, Jacquemin E, Dubuisson C, Cresteil D, Dumont M, Erlinger S, et al. Defect of multidrug-resistance 3 gene expression in a subtype of progressive familial intrahepatic cholestasis. Hepatology. 1996;23:904–8.

    CAS 
    Article 

    Google Scholar
     

  • 12.

    Jacquemin E, De Vree JM, Cresteil D, Sokal EM, Sturm E, Dumont M, et al. The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood. Gastroenterology. 2001;120:1448–58.

    CAS 
    Article 

    Google Scholar
     

  • 13.

    Sambrotta M, Strautnieks S, Papouli E, Rushton P, Clark BE, Parry DA, et al. Mutations in TJP2 cause progressive cholestatic liver disease. Nat Genet. 2014;46:326–8.

    CAS 
    Article 

    Google Scholar
     

  • 14.

    Vitale G, Gitto S, Raimondi F, Mattiaccio A, Mantovani V, Vukotic R, et al. Cryptogenic cholestasis in young and adults: ATP8B1, ABCB11, ABCB4, and TJP2 gene variants analysis by high-throughput sequencing. J Gastroenterol. 2018;53:945–58.

    CAS 
    Article 

    Google Scholar
     

  • 15.

    Wang HY, Zhao YL, Liu Q, Yuan H, Gao Y, Lan L, et al. Identification of two disease-causing genes TJP2 and GJB2 in a Chinese family with unconditional autosomal dominant nonsyndromic hereditary hearing impairment. Chin Med J (Engl). 2015;128:3345–51.

    Article 

    Google Scholar
     

  • 16.

    Wei CS, Becher N, Friis JB, Ott P, Vogel I, Grønbæk H. New tight junction protein 2 variant causing progressive familial intrahepatic cholestasis type 4 in adults: a case report. World J Gastroenterol. 2020;26:550–61.

    Article 

    Google Scholar
     

  • 17.

    Ekinci S, Karnak I, Gürakan F, Yüce A, Senocak ME, Cahit Tanyel F, et al. Partial external biliary diversion for the treatment of intractable pruritus in children with progressive familial intrahepatic cholestasis: report of two cases. Surg Today. 2008;38:726–30.

    Article 

    Google Scholar
     

  • 18.

    Bustorff-Silva J, Sbraggia Neto L, Olímpio H, de Alcantara RV, Matsushima E, De Tommaso AM, et al. Partial internal biliary diversion through a cholecystojejunocolonic anastomosis–a novel surgical approach for patients with progressive familial intrahepatic cholestasis: a preliminary report. J Pediatr Surg. 2007;42:1337–40.

    Article 

    Google Scholar
     

  • 19.

    Ramachandran P, Shanmugam NP, Sinani SA, Shanmugam V, Srinivas S, Sathiyasekaran M, et al. Outcome of partial internal biliary diversion for intractable pruritus in children with cholestatic liver disease. Pediatr Surg Int. 2014;30:1045–9.

    CAS 
    Article 

    Google Scholar
     

  • 20.

    Englert C, Grabhorn E, Richter A, Rogiers X, Burdelski M, Ganschow R. Liver transplantation in children with progressive familial intrahepatic cholestasis. Transplantation. 2007;84:1361–3.

    Article 

    Google Scholar
     

  • 21.

    Hori T, Egawa H, Miyagawa-Hayashino A, Yorifuji T, Yonekawa Y, Nguyen JH, et al. Living-donor liver transplantation for progressive familial intrahepatic cholestasis. World J Surg. 2011;35:393–402.

    Article 

    Google Scholar
     

  • 22.

    Mehl A, Bohorquez H, Serrano MS, Galliano G, Reichman TW. Liver transplantation and the management of progressive familial intrahepatic cholestasis in children. World J Transplant. 2016;6:278–90.

    Article 

    Google Scholar
     

  • 23.

    Keitel V, Burdelski M, Vojnisek Z, Schmitt L, Häussinger D, Kubitz R. De novo bile salt transporter antibodies as a possible cause of recurrent graft failure after liver transplantation: a novel mechanism of cholestasis. Hepatology. 2009;50:510–7.

    CAS 
    Article 

    Google Scholar
     

  • 24.

    Jara P, Hierro L, Martinez-Fernandez P. Recurrence of bile salt export pump deficiency after liver transplantation. N Engl J Med. 2009;361:1359–67.

    CAS 
    Article 

    Google Scholar
     

  • 25.

    Kubitz R, Dröge C, Kluge S, Stross C, Walter N, Keitel V, et al. Autoimmune BSEP disease recurrence after liver transplantation for progressive familial intrahepatic cholestasis. Clin Rev Allergy Immunol. 2015;48:273–84.

    CAS 
    Article 

    Google Scholar
     

  • 26.

    Masahata K, Uehara S, Ibuka S, Nakahata K, Hasegawa Y, Kondou H, et al. Recurrence of progressive familial intrahepatic cholestasis type 2 phenotype after living-donor liver transplantation: a case report. Transplant Proc. 2016;48:3156–62.

    CAS 
    Article 

    Google Scholar
     

  • 27.

    Bassas A, Chehab M, Hebby H, Al Shahed M, Al Husseini H, Al Zahrani A, et al. Living related liver transplantation in 13 cases of progressive familial intrahepatic cholestasis. Transplant Proc. 2003;35:3003–5.

    CAS 
    Article 

    Google Scholar
     

  • 28.

    Colombo C, Vajro P, Degiorgio D, Coviello DA, Costantino L, Tornillo L, et al. Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type-3 related to ABCB4 mutations. J Pediatr Gastroenterol Nutr. 2011;52:73–83.

    CAS 
    Article 

    Google Scholar
     

  • 29.

    Kaur S, Sharma D, Wadhwa N, Gupta S, Chowdhary SK, Sibal A. Therapeutic interventions in progressive familial intrahepatic cholestasis: experience from a tertiary care centre in north India. Indian J Pediatr. 2012;79:270–3.

    Article 

    Google Scholar
     

  • 30.

    Agarwal S, Lal BB, Rawat D, Rastogi A, Bharathy KG, Alam S. Progressive familial intrahepatic cholestasis (PFIC) in Indian children: clinical spectrum and outcome. J Clin Exp Hepatol. 2016;6:203–8.

    Article 

    Google Scholar
     

  • 31.

    Liu Y, Sun LY, Zhu ZJ, Wei L, Qu W, Zeng ZG. Liver transplantation for progressive familial intrahepatic cholestasis. Ann Transplant. 2018;23:666–73.

    Article 

    Google Scholar
     

  • 32.

    Hayashi H, Naoi S, Togawa T, Hirose Y, Kondou H, Hasegawa Y, et al. Assessment of ATP8B1 deficiency in pediatric patients with cholestasis using peripheral blood monocyte-derived macrophages. EBioMedicine. 2018;27:187–99.

    Article 

    Google Scholar
     

  • 33.

    Schukfeh N, Metzelder ML, Petersen C, Reismann M, Pfister ED, Ure BM, et al. Normalization of serum bile acids after partial external biliary diversion indicates an excellent long-term outcome in children with progressive familial intrahepatic cholestasis. J Pediatr Surg. 2012;47:501–5.

    Article 

    Google Scholar
     

  • 34.

    Mali VP, Fukuda A, Shigeta T, Uchida H, Hirata Y, Rahayatri TH, et al. Total internal biliary diversion during liver transplantation for type 1 progressive familial intrahepatic cholestasis: a novel approach. Pediatr Transplant. 2016;20:981–6.

    CAS 
    Article 

    Google Scholar
     

  • 35.

    Egawa H, Yorifuji T, Sumazaki R, Kimura A, Hasegawa M, Tanaka K. Intractable diarrhea after liver transplantation for Byler’s disease: successful treatment with bile adsorptive resin. Liver Transplant. 2002;8:714–6.

    Article 

    Google Scholar
     

  • 36.

    Jansen PL, Strautnieks SS, Jacquemin E, Hadchouel M, Sokal EM, Hooiveld GJ, et al. Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis. Gastroenterology. 1999;117:1370–9.

    CAS 
    Article 

    Google Scholar
     

  • 37.

    Freise CE, Gillespie BW, Koffron AJ, Lok AS, Pruett TL, Emond JC, et al. Recipient morbidity after living and deceased donor liver transplantation: findings from the A2ALL Retrospective Cohort Study. Am J Transplant. 2008;8:2569–79.

    CAS 
    Article 

    Google Scholar
     

  • 38.

    Hoehn RS, Wilson GC, Wima K, Hohmann SF, Midura EF, Woodle ES, et al. Comparing living donor and deceased donor liver transplantation: a matched national analysis from 2007 to 2012. Liver Transplant. 2014;20:1347–55.

    Article 

    Google Scholar
     

  • 39.

    Zhou S, Hertel PM, Finegold MJ, Wang L, Kerkar N, Wang J, et al. Hepatocellular carcinoma associated with tight-junction protein 2 deficiency. Hepatology. 2015;62:1914–6.

    Article 

    Google Scholar
     

  • 40.

    Davit-Spraul A, Gonzales E, Baussan C, Jacquemin E. The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects. Semin Liver Dis. 2010;30:134–46.

    CAS 
    Article 

    Google Scholar
     

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