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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 …
A Molecular Mechanism Underlying Genotype-Specific Intrahepatic Cholestasis Resulting From MYO5B Mutations.
Overeem AW, Li Q, Qiu YL, Cartón-García F, Leng C, Klappe K, Dronkers J, Hsiao NH, Wang JS, Arango D, van Ijzendoorn SCD. Overeem AW, et al. Hepatology. 2020 Jul;72(1):213-229. doi: 10.1002/hep.31002. Epub 2020 Apr 23. Hepatology. 2020. PMID: 31750554 Free PMC article.
BACKGROUND AND AIMS: Progressive familial intrahepatic cholestasis (PFIC) 6 has been associated with missense but not biallelic nonsense or frameshift mutations in MYO5B, encoding the motor protein myosin Vb (myoVb). ...The aim of this study was …
BACKGROUND AND AIMS: Progressive familial intrahepatic cholestasis (PFIC) 6 has been associated with miss …
Genetic Causes of Liver Disease: When to Suspect a Genetic Etiology, Initial Lab Testing, and the Basics of Management.
Schonfeld EA, Brown RS Jr. Schonfeld EA, et al. Med Clin North Am. 2019 Nov;103(6):991-1003. doi: 10.1016/j.mcna.2019.07.003. Med Clin North Am. 2019. PMID: 31582009 Review.
Gilbert syndrome is a benign cause of indirect hyperbilirubinemia. Alpha-1 antitrypsin deficiency causes both lung and liver disease. Wilson disease can cause neurologic disease and liver disease. Progressive familial intrahepatic …
Gilbert syndrome is a benign cause of indirect hyperbilirubinemia. Alpha-1 antitrypsin deficiency causes both lung and liver disease. …
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
In the posttransplant period, they had higher rates of mammalian Target of Rapamycin inhibitor use (P = 0.006), Epstein-Barr virus viremia (P = 0.03), post-transplant lymphoproliferative disease (P = 0.005), and allergen sensitization (P 0.0001). In regression analysis, yo …
In the posttransplant period, they had higher rates of mammalian Target of Rapamycin inhibitor use (P = 0.006), Epstein-Barr virus viremia ( …
Diagnostic Yield of an Algorithm for Neonatal and Infantile Cholestasis Integrating Next-Generation Sequencing.
Nicastro E, Di Giorgio A, Marchetti D, Barboni C, Cereda A, Iascone M, D'Antiga L. Nicastro E, et al. J Pediatr. 2019 Aug;211:54-62.e4. doi: 10.1016/j.jpeds.2019.04.016. Epub 2019 May 31. J Pediatr. 2019. PMID: 31160058
STUDY DESIGN: An observational study was conducted between 2012 and 2017 in a tertiary care setting on a prospective cohort of children with cholestasis occurring at 1 year of age and persisting 6 weeks, to measure the detection rate of underlying monogenic d …
STUDY DESIGN: An observational study was conducted between 2012 and 2017 in a tertiary care setting on a prospective cohort of childr …
Clinical utility of genomic analysis in adults with idiopathic liver disease.
Hakim A, Zhang X, DeLisle A, Oral EA, Dykas D, Drzewiecki K, Assis DN, Silveira M, Batisti J, Jain D, Bale A, Mistry PK, Vilarinho S. Hakim A, et al. J Hepatol. 2019 Jun;70(6):1214-1221. doi: 10.1016/j.jhep.2019.01.036. Epub 2019 Apr 15. J Hepatol. 2019. PMID: 31000363 Free PMC article.
METHODS: We performed WES and deep phenotyping of 19 unrelated adult patients with idiopathic liver disease recruited at a tertiary academic health care center in the US. ...In 5 cases, genomic analysis led to a diagnosis and informed treatment and management of the …
METHODS: We performed WES and deep phenotyping of 19 unrelated adult patients with idiopathic liver disease recruited at a tertiary a …
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 …
Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations.
Colombo C, Vajro P, Degiorgio D, Coviello DA, Costantino L, Tornillo L, Motta V, Consonni D, Maggiore G; SIGENP Study Group for Genetic Cholestasis. Colombo C, et al. J Pediatr Gastroenterol Nutr. 2011 Jan;52(1):73-83. doi: 10.1097/MPG.0b013e3181f50363. J Pediatr Gastroenterol Nutr. 2011. PMID: 21119540
At presentation (1-204 months), 20 children were symptomatic with jaundice and/or pruritus, whereas in 8 biochemical cholestasis was a fortuitous finding. Cirrhosis developed in 15 and 6 progressed to terminal liver failure. ...CONCLUSIONS: ABCB4 mutations ar …
At presentation (1-204 months), 20 children were symptomatic with jaundice and/or pruritus, whereas in 8 biochemical cholestasis was …