Progressive familial intrahepatic cholestasis type 3

1Davit-Spraul A, Gonzales E, Baussan C, et al. Progressive familial intrahepatic cholestasis. Orphanet J Rare Dis. 2009;4:1.Davit-Spraul A Gonzales E Baussan C et al Progressive familial intrahepatic cholestasis Orphanet J Rare Dis 20094110.1186/1750-1172-4-1264753019133130Search in Google Scholar

2Sambrotta M, Thompson RJ. Mutations in TJP2, encoding zona occludens 2, and liver disease. Tissue Barriers 2015;3:e1026537.Sambrotta M Thompson RJ Mutations in TJP2, encoding zona occludens 2, and liver disease Tissue Barriers 20153e102653710.1080/21688370.2015.1026537457488826451340Search in Google Scholar

3Knisely AS, Gissen P. Trafficking and transporter disorders in pediatric cholestasis. Clin Liver Dis. 2010;14:619-633.Knisely AS Gissen P Trafficking and transporter disorders in pediatric cholestasis Clin Liver Dis 201014619 63310.1016/j.cld.2010.08.00121055686Search in Google Scholar

4Jacquemin E, De Vree JM, Cresteil D, et al. The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood. Gastroenterology 2001;120:1448-1458.Jacquemin E De Vree JM Cresteil D et al The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood Gastroenterology 20011201448 145810.1053/gast.2001.2398411313315Search in Google Scholar

5Lammert F, Wang DQ, Hillebrandt S, et al. Spontaneous cholecysto- and hepatolithiasis in Mdr2−/− mice: a model for low phospholipidassociated cholelithiasis. Hepatology 2004;39:117-128.Lammert F Wang DQ Hillebrandt S et al Spontaneous cholecysto- and hepatolithiasis in Mdr2−/− mice: a model for low phospholipidassociated cholelithiasis Hepatology 200439117 12810.1002/hep.2002214752830Search in Google Scholar

6Poupon R, Barbu V, Chamouard P, Wendum D, Rosmorduc O, Housset C. Combined features of low phospholipid associated cholelithiasis and progressive familial intrahepatic cholestasis 3. Liver Int. 2010;30:327-331.Poupon R Barbu V Chamouard P Wendum D Rosmorduc O Housset C Combined features of low phospholipid associated cholelithiasis and progressive familial intrahepatic cholestasis 3 Liver Int 201030327 33110.1111/j.1478-3231.2009.02148.x19840255Search in Google Scholar

7Rosmorduc O, Poupon R. Low phospholipid associated cholelithiasis: association with mutation in the MDR3/ABCB4 gene. Orphanet J Rare Dis. 2007;2:29.Rosmorduc O Poupon R Low phospholipid associated cholelithiasis: association with mutation in the MDR3/ABCB4 gene Orphanet J Rare Dis 200722910.1186/1750-1172-2-29191059717562004Search in Google Scholar

8Srivastava A. Progressive familial intrahepatic cholestasis. J Clin Exp Hepatol. 2014;4:25-36.Srivastava A Progressive familial intrahepatic cholestasis J Clin Exp Hepatol 2014425 3610.1016/j.jceh.2013.10.005401719825755532Search in Google Scholar

9Colombo 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.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 20115273 8310.1097/MPG.0b013e3181f5036321119540Search in Google Scholar

10Ziol M, Barbu V, Rosmorduc O, et al. ABCB4 heterozygous gene mutations associated with fibrosing cholestatic liver disease in adults. Gastroenterology 2008;135:131-141. 16.Ziol M Barbu V Rosmorduc O et al ABCB4 heterozygous gene mutations associated with fibrosing cholestatic liver disease in adults Gastroenterology 2008135131 141 1610.1053/j.gastro.2008.03.04418482588Search in Google Scholar

11Rosmorduc O, Hermelin B, Boelle PY, et al. ABCB4 gene mutationassociated cholelithiasis in adults. Gastroenterology 2003;125:452-459.Rosmorduc O Hermelin B Boelle PY et al ABCB4 gene mutationassociated cholelithiasis in adults Gastroenterology 2003125452 45910.1016/S0016-5085(03)00898-9Search in Google Scholar

12Wasmuth E, Glantz A, Keppeler A, et al. Intrahepatic cholestasis of pregnancy: the severe form is associated with common variants of the hepatobiliary phospholipid transporter ABCB4 gene. Gut 2007;56:265-270.Wasmuth E Glantz A Keppeler A et al Intrahepatic cholestasis of pregnancy: the severe form is associated with common variants of the hepatobiliary phospholipid transporter ABCB4 gene Gut 200756265 27010.1136/gut.2006.092742Search in Google Scholar

13Tougeron D, Fotsing G, Barbu V, et al. ABCB4/MDR3 gene mutations and cholangiocarcinomas. J Hepatol. 2012;57: 467-468.Tougeron D Fotsing G Barbu V et al ABCB4/MDR3 gene mutations and cholangiocarcinomas J Hepatol 201257 467 46810.1016/j.jhep.2012.01.025Search in Google Scholar

14van Ooteghem NAM, Klomp LWJ, van Berge-Henegouwen GP, et al. Benign recurrent intrahepatic cholestasis progressing to progressive familial intrahepatic cholestasis: low GGT cholestasis is a clinical continuum. J Hepatol. 2002;36:439-443. 28.van Ooteghem NAM Klomp LWJ van Berge-Henegouwen GP et al. Benign recurrent intrahepatic cholestasis progressing to progressive familial intrahepatic cholestasis: low GGT cholestasis is a clinical continuum J Hepatol 200236439 443 2810.1016/S0168-8278(01)00299-9Search in Google Scholar

15Gordo-Gilart R, Andueza S, Hierro L, et al. Functional analysis of ABCB4 mutations relates clinical outcomes of progressive familial intrahepatic cholestasis type 3 to the degree of MDR3 floppase activity. Gut 2015;64:147-155.Gordo-Gilart R Andueza S Hierro L et al Functional analysis of ABCB4 mutations relates clinical outcomes of progressive familial intrahepatic cholestasis type 3 to the degree of MDR3 floppase activity Gut 201564147 15510.1136/gutjnl-2014-30689624594635Search in Google Scholar

16Durand-Schneider AM, Abarane A, Delautier D, et al. Effect of missense mutations of the MDR3 gene identified in patients with progressive familial intrahepatic cholestasis type III. Hepatology 2003;44:622A.Durand-Schneider AM Abarane A Delautier D et al Effect of missense mutations of the MDR3 gene identified in patients with progressive familial intrahepatic cholestasis type III Hepatology 200344622ASearch in Google Scholar

17Gordo-Gilart R, Hierro L, Andueza S, et al. Heterozygous ABCB4 mutations in children with cholestatic liver disease. Liver Int. 2016;36:258-267.Gordo-Gilart R Hierro L Andueza S et al Heterozygous ABCB4 mutations in children with cholestatic liver disease Liver Int 201636258 26710.1111/liv.1291026153658Search in Google Scholar

18Vij M, Safwan M, Shanmugam NP, et al. Liver pathology in severe multidrug resistant 3 protein deficiency: a series of 10 pediatric cases. Ann Diagn Pathol. 2015;19:277-282.Vij M Safwan M Shanmugam NP et al Liver pathology in severe multidrug resistant 3 protein deficiency: a series of 10 pediatric cases Ann Diagn Pathol 201519277 28210.1016/j.anndiagpath.2015.06.00226117383Search in Google Scholar

19Fawaz R, Baumann U, Ekong U, et al. Guideline for the Evaluation of Cholestatic Jaundice in Infants: Joint Recommendations of the North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition and the European Society for Pediatric Gastroenterology, Hepatology, and Nutrition. J Pediatr Gastroenterol Nutr. 2017;64:154-168.Fawaz R Baumann U Ekong U et al Guideline for the Evaluation of Cholestatic Jaundice in Infants: Joint Recommendations of the North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition and the European Society for Pediatric Gastroenterology, Hepatology, and Nutrition J Pediatr Gastroenterol Nutr 201764154 16810.1097/MPG.000000000000133427429428Search in Google Scholar

20Götze T, Blessing H, Grillhösl C, et al. Neonatal Cholestasis - Differential Diagnoses, Current Diagnostic Procedures, and Treatment. Front Pediatr. 2015;3:43.Götze T Blessing H Grillhösl C et al Neonatal Cholestasis - Differential Diagnoses, Current Diagnostic Procedures, and Treatment Front Pediatr 2015343Search in Google Scholar

21Lacaille F. Neonatal cholestasis. Arch Pediatr. 2016;23:309-316.Lacaille F Neonatal cholestasis Arch Pediatr 201623309 31610.1016/j.arcped.2015.11.02626850153Search in Google Scholar

22Togawa T, Sugiura T, Ito K, et al. Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing. J Pediatr. 2016;171:171-177.Togawa T Sugiura T Ito K et al Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing J Pediatr 2016171171 17710.1016/j.jpeds.2016.01.00626858187Search in Google Scholar

23Lee SJ, Kim JE, Choe BH, et al. Early Diagnosis of ABCB11 Spectrum Liver Disorders by Next Generation Sequencing. Pediatr Gastroenterol Hepatol Nutr. 2017;20:114-123.Lee SJ Kim JE Choe BH et al Early Diagnosis of ABCB11 Spectrum Liver Disorders by Next Generation Sequencing Pediatr Gastroenterol Hepatol Nutr 201720114 12310.5223/pghn.2017.20.2.114551737828730136Search in Google Scholar

24Dröge C, Bonus M, Baumann U et al. Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants. J Hepatol. 2017;67:1253-1264.Dröge C Bonus M Baumann U et al Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants J Hepatol 2017671253 126410.1016/j.jhep.2017.07.00428733223Search in Google Scholar

25Boga S, Jain D, Schilsky ML. Presentation of Progressive Familial Intrahepatic Cholestasis Type 3 Mimicking Wilson Disease: Molecular Genetic Diagnosis and Response to Treatment. Pediatr Gastroenterol Hepatol Nutr. 2015;18:202-208.Boga S Jain D Schilsky ML Presentation of Progressive Familial Intrahepatic Cholestasis Type 3 Mimicking Wilson Disease: Molecular Genetic Diagnosis and Response to Treatment Pediatr Gastroenterol Hepatol Nutr 201518202 20810.5223/pghn.2015.18.3.202460070626473142Search in Google Scholar

26Lemoine C, Bhardwaj T, Bass LM. Outcomes following partial external biliary diversion in patients with progressive familialintrahepatic cholestasis. J Pediatr Surg. 2017;52:268-272.Lemoine C Bhardwaj T Bass LM Outcomes following partial external biliary diversion in patients with progressive familialintrahepatic cholestasis J Pediatr Surg 201752268 27210.1016/j.jpedsurg.2016.11.02127916445Search in Google Scholar

27Diao M, Li L, Zhang JS, et al. Laparoscopic cholecystocolostomy: a novel surgical approach for the treatment of progressivefamilial intrahepatic cholestasis. Ann Surg. 2013;258:1028-1033.Diao M Li L Zhang JS et al Laparoscopic cholecystocolostomy: a novel surgical approach for the treatment of progressivefamilial intrahepatic cholestasis Ann Surg 20132581028 103310.1097/SLA.0b013e31827905eb23187749Search in Google Scholar

28Dixon PH, Sambrotta M, Chambers J et al. An expanded role for heterozygous mutations of ABCB4, ABCB11, ATP8B1, ABCC2 and TJP2 in intrahepatic cholestasis of pregnancy. Sci Rep. 2017;7:11823.Dixon PH Sambrotta M Chambers J et al An expanded role for heterozygous mutations of ABCB4, ABCB11, ATP8B1, ABCC2 and TJP2 in intrahepatic cholestasis of pregnancy Sci Rep 201771182310.1038/s41598-017-11626-x560358528924228Search in Google Scholar