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Single-center experience in management of progressive familial intrahepatic cholestasis.
Varol Fİ, Selimoğlu MA, Güngör Ş, Yılmaz S, Tekedereli İ. Varol Fİ, et al. Arab J Gastroenterol. 2021 Dec;22(4):310-315. doi: 10.1016/j.ajg.2021.05.021. Epub 2021 Nov 25. Arab J Gastroenterol. 2021. PMID: 34840097
BACKGROUND AND STUDY AIMS: Progressive familial intrahepatic cholestasis (PFIC) is an autosomal recessively inherited disease that causes intrahepatic-hepatocellular cholestasis. ...Liver transplantation was performed in 12 (35.3%) …
BACKGROUND AND STUDY AIMS: Progressive familial intrahepatic cholestasis (PFIC) is an autosomal recessively inhe …
Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency.
van Wessel DBE, Thompson RJ, Gonzales E, Jankowska I, Shneider BL, Sokal E, Grammatikopoulos T, Kadaristiana A, Jacquemin E, Spraul A, Lipiński P, Czubkowski P, Rock N, Shagrani M, Broering D, Algoufi T, Mazhar N, Nicastro E, Kelly D, Nebbia G, Arnell H, Fischler B, Hulscher JBF, Serranti D, Arikan C, Debray D, Lacaille F, Goncalves C, Hierro L, Muñoz Bartolo G, Mozer-Glassberg Y, Azaz A, Brecelj J, Dezsőfi A, Luigi Calvo P, Krebs-Schmitt D, Hartleif S, van der Woerd WL, Wang JS, Li LT, Durmaz Ö, Kerkar N, Hørby Jørgensen M, Fischer R, Jimenez-Rivera C, Alam S, Cananzi M, Laverdure N, Targa Ferreira C, Ordonez F, Wang H, Sency V, Mo Kim K, Chen HL, Carvalho E, Fabre A, Quintero Bernabeu J, Alonso EM, Sokol RJ, Suchy FJ, Loomes KM, McKiernan PJ, Rosenthal P, Turmelle Y, Rao GS, Horslen S, Kamath BM, Rogalidou M, Karnsakul WW, Hansen B, Verkade HJ; Natural Course and Prognosis of PFIC and Effect of Biliary Diversion Consortium. van Wessel DBE, et al. Hepatology. 2021 Aug;74(2):892-906. doi: 10.1002/hep.31787. Epub 2021 Jul 13. Hepatology. 2021. PMID: 33666275 Free PMC article.
BACKGROUND AND AIMS: Mutations in ATPase phospholipid transporting 8B1 (ATP8B1) can lead to familial intrahepatic cholestasis type 1 (FIC1) deficiency, or progressive familial intrahepatic cholestasis type 1. ...NLS was comparable …
BACKGROUND AND AIMS: Mutations in ATPase phospholipid transporting 8B1 (ATP8B1) can lead to familial intrahepatic cholestas …
The Bile Salt Export Pump: Molecular Structure, Study Models and Small-Molecule Drugs for the Treatment of Inherited BSEP Deficiencies.
Sohail MI, Dönmez-Cakil Y, Szöllősi D, Stockner T, Chiba P. Sohail MI, et al. Int J Mol Sci. 2021 Jan 14;22(2):784. doi: 10.3390/ijms22020784. Int J Mol Sci. 2021. PMID: 33466755 Free PMC article. Review.
The bile salt export pump (BSEP/ABCB11) is responsible for the transport of bile salts from hepatocytes into bile canaliculi. Malfunction of this transporter results in progressive familial intrahepatic cholestasis type 2 (PFIC2), benign recurrent i …
The bile salt export pump (BSEP/ABCB11) is responsible for the transport of bile salts from hepatocytes into bile canaliculi. Malfunction of …
ABCB11 deficiency presenting as transient neonatal cholestasis: Correlation with genotypes and BSEP expression.
Li LT, Li ZD, Yang Y, Lu Y, Xie XB, Chen L, Feng JY, Knisely AS, Wang JS. Li LT, et al. Liver Int. 2020 Nov;40(11):2788-2796. doi: 10.1111/liv.14642. Epub 2020 Oct 13. Liver Int. 2020. PMID: 32808743
BACKGROUND & AIMS: ABCB11 deficiency presenting in infancy is believed generally to manifest as persistent/progressive cholestasis. We describe a group of patients with biallelic ABCB11 variants whose disorder manifested as transient neonatal cholestasis …
BACKGROUND & AIMS: ABCB11 deficiency presenting in infancy is believed generally to manifest as persistent/progressive cholest …
Disease Course and Treatment Response of Eosinophilic Gastrointestinal Diseases in Children With Liver Transplantation: Long-Term Follow-Up.
Ozdogan E, Doganay L, Can D, Arikan C. Ozdogan E, et al. Am J Gastroenterol. 2021 Jan 1;116(1):188-197. doi: 10.14309/ajg.0000000000000934. Am J Gastroenterol. 2021. PMID: 33065587
A total of 39 (44%) patients were diagnosed with EGID after transplantation. Of these, 29 (33%) had eosinophilic esophagitis (EoE), and 10 (11%) had eosinophilic gastritis, gastroenteritis or enterocolitis. ...In the posttransplant period, they had higher rates of mammalia …
A total of 39 (44%) patients were diagnosed with EGID after transplantation. Of these, 29 (33%) had eosinophilic esophagitis (EoE), and 1 …
Phenotype-Genotype Correlation of North Indian Progressive Familial Intrahepatic Cholestasis type2 Children Shows p.Val444Ala and p.Asn591Ser Variants and Retained BSEP Expression.
Mitra S, Das A, Thapa B, Kumar Vasishta R. Mitra S, et al. Fetal Pediatr Pathol. 2020 Apr;39(2):107-123. doi: 10.1080/15513815.2019.1641860. Epub 2019 Jul 23. Fetal Pediatr Pathol. 2020. PMID: 31335238
Backgrounds and Aims: Progressive familial intrahepatic cholestasis type 2 (PFIC2) is caused by a defect or deficiency of bile salt export protein (BSEP) due to mutation in the ABCB11 gene. We intend to evaluate the phenotype-genotype correlation in …
Backgrounds and Aims: Progressive familial intrahepatic cholestasis type 2 (PFIC2) is caused by a defect or defi …
Panel-Based Next-Generation Sequencing for the Diagnosis of Cholestatic Genetic Liver Diseases: Clinical Utility and Challenges.
Chen HL, Li HY, Wu JF, Wu SH, Chen HL, Yang YH, Hsu YH, Liou BY, Chang MH, Ni YH. Chen HL, et al. J Pediatr. 2019 Feb;205:153-159.e6. doi: 10.1016/j.jpeds.2018.09.028. Epub 2018 Oct 23. J Pediatr. 2019. PMID: 30366773
During 2015-2017, 102 pediatric patients with various forms of cholestasis or idiopathic liver diseases were tested, including patients with initial diagnosis of cholestasis in infancy, progressive familial intrahepatic cholestasis, syndr …
During 2015-2017, 102 pediatric patients with various forms of cholestasis or idiopathic liver diseases were tested, including patien …
Treatment of progressive familial intrahepatic cholestasis: liver transplantation or partial external biliary diversion.
Ismail H, Kaliciński P, Markiewicz M, Jankowska I, Pawłowska J, Kluge P, Eliadou E, Kamiński A, Szymczak M, Drewniak T, Revillon Y. Ismail H, et al. Pediatr Transplant. 1999 Aug;3(3):219-24. doi: 10.1034/j.1399-3046.1999.00046.x. Pediatr Transplant. 1999. PMID: 10487283
Progressive intrahepatic familial cholestasis (PFIC), previously called Byler's disease, is a syndrome in which children develop severe cholestasis progressing to biliary cirrhosis and chronic liver failure, usually during the firs …
Progressive intrahepatic familial cholestasis (PFIC), previously called Byler's disease, is a syndrome in …
Selective surgical management of progressive familial intrahepatic cholestasis (Byler's disease).
Emond JC, Whitington PF. Emond JC, et al. J Pediatr Surg. 1995 Dec;30(12):1635-41. doi: 10.1016/0022-3468(95)90440-9. J Pediatr Surg. 1995. PMID: 8749912
Progressive familial intrahepatic cholestasis (PFIC) presents in early childhood with pruritus, jaundice, hepatomegaly, and growth failure. Medical therapy is unsuccessful, with progression from cholestasis to hepatic fibrosis, cir …
Progressive familial intrahepatic cholestasis (PFIC) presents in early childhood with pruritus, jaundice, hepato …