keyword
MENU ▼
Read by QxMD icon Read
search

Pfic

keyword
https://www.readbyqxmd.com/read/29761168/outcomes-of-surgical-management-of-familial-intrahepatic-cholestasis-1-and-bile-salt-export-protein-deficiencies
#1
Laura N Bull, Ludmila Pawlikowska, Sandra Strautnieks, Irena Jankowska, Piotr Czubkowski, Jennifer L Dodge, Karan Emerick, Catherine Wanty, Sami Wali, Samra Blanchard, Florence Lacaille, Jane A Byrne, Albertien M van Eerde, Kaija-Leena Kolho, Roderick Houwen, Steven Lobritto, Vera Hupertz, Patricia McClean, Giorgina Mieli-Vergani, Etienne Sokal, Philip Rosenthal, Peter F Whitington, Joanna Pawlowska, Richard J Thompson
Progressive familial intrahepatic cholestasis (PFIC) with normal circulating gamma-glutamyl transpeptidase levels can result from mutations in the ATP8B1 gene (encoding familial intrahepatic cholestasis 1 [FIC1] deficiency) or the ABCB11 gene (bile salt export protein [BSEP] deficiency). We investigated the outcomes of partial external biliary diversion, ileal exclusion, and liver transplantation in these two conditions. We conducted a retrospective multicenter study of 42 patients with FIC1 deficiency (FIC1 patients) and 60 patients with BSEP deficiency (BSEP patients) who had undergone one or more surgical procedures (57 diversions, 6 exclusions, and 57 transplants)...
May 2018: Hepatology Communications
https://www.readbyqxmd.com/read/29761167/phenotypic-spectrum-and-diagnostic-pitfalls-of-abcb4-deficiency-depending-on-age-of-onset
#2
Stephanie Barbara Schatz, Christoph Jüngst, Verena Keitel-Anselmo, Ralf Kubitz, Christina Becker, Patrick Gerner, Eva-Doreen Pfister, Imeke Goldschmidt, Norman Junge, Daniel Wenning, Stephan Gehring, Stefan Arens, Dirk Bretschneider, Dirk Grothues, Guido Engelmann, Frank Lammert, Ulrich Baumann
Genetic variants in the adenosine triphosphate-binding cassette subfamily B member 4 ( ABCB4 ) gene, which encodes hepatocanalicular phosphatidylcholine floppase, can lead to different phenotypes, such as progressive familial intrahepatic cholestasis (PFIC) type 3, low phospholipid-associated cholelithiasis, and intrahepatic cholestasis of pregnancy. The aim of this multicenter project was to collect information on onset and progression of this entity in different age groups and to assess the relevance of this disease for the differential diagnosis of chronic liver disease...
May 2018: Hepatology Communications
https://www.readbyqxmd.com/read/29729773/surgical-outcomes-in-alagille-syndrome-and-pfic-a-single-institution-s-20-year-experience
#3
Celia D Flores, Yangyang R Yu, Tamir A Miloh, John Goss, Mary L Brandt
BACKGROUND: Alagille Syndrome (AGS) and Progressive Familial Intrahepatic Cholestasis (PFIC) are rare pediatric biliary disorders that lead to progressive liver disease. This study reviews our experience with the surgical management of these disorders over the last 20years. METHODS: We retrospectively reviewed the records of children diagnosed with AGS or PFIC from January 1996 to December 2016. Data collected included demographics, surgical intervention (liver transplant or biliary diversion), and complications...
May 2018: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29718219/xenobiotic-nuclear-receptor-signaling-determines-molecular-pathogenesis-of-progressive-familial-intrahepatic-cholestasis
#4
Kang Ho Kim, Jong Min Choi, Feng Li, Armando Arizpe, Clavia Ruth Wooton-Kee, Sayeepriyadarshini Anakk, Sung Yun Jung, Milton J Finegold, David D Moore
Progressive familial intrahepatic cholestasis (PFIC) is a genetically heterogeneous disorder of bile flow disruption due to abnormal canalicular transport or impaired bile acid (BA) metabolism, causing excess BA accumulation and liver failure. We reported an intrahepatic cholestasis mouse model based on loss of function of both farnesoid X receptor (FXR; NR1H4) and small heterodimer partner (SHP, NR0B2) (DKO), which has strong similarities to human PFIC type 5. Here, we compare the pathogenesis of the DKO liver to that of another intrahepatic cholestasis model, Bsep-/-, which represents human PFIC2...
April 26, 2018: Endocrinology
https://www.readbyqxmd.com/read/29707407/variants-associated-with-infantile-cholestatic-syndromes-detected-in-extrahepatic-biliary-atresia-by-whole-exome-studies-a-20-case-series-from-thailand
#5
Surasak Sangkhathat, Wison Laochareonsuk, Wanwisa Maneechay, Kanita Kayasut, Piyawan Chiengkriwate
Biliary atresia (BA) is the most severe form of obstructive cholangiopathy occurring in infants. Definitive diagnosis of BA usually relies on operative findings together with supporting pathological patterns found in the extrahepatic bile duct. In infancy, overlapping clinical patterns of cholestasis can be found in other diseases including biliary hypoplasia and progressive familial intrahepatic cholestasis. In addition, BA has been reported as a phenotype in some rare genetic syndromes. Unlike BA, other cholangiopathic phenotypes have their own established genetic markers...
June 2018: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29682357/giant-right-atrial-aneurysm-accompanying-intrahepatic-cholestasis
#6
Ayse Sulu, Osman Baspinar, Selim Kervancıoglu, Samil Hizli
Right atrial aneurysms were first described in 1955, and subsequently, only a few cases have been reported. The etiology of this condition is unknown. Its comorbidity with cholestasis has not previously been reported in the literature. An 11-month-old baby female, who was an offspring from a first-cousin marriage, was referred to our hospital for investigation of jaundice. She underwent echocardiography because of a heart murmur, and this revealed a giant right atrial aneurysm. In addition, her liver biopsy confirmed the diagnosis of progressive familial intrahepatic cholestasis (PFIC) type 3...
2018: Case Reports in Cardiology
https://www.readbyqxmd.com/read/29390323/liver-transplantation-for-decompensated-liver-cirrhosis-caused-by-progressive-familial-intrahepatic-cholestasis-type-3-a-case-report
#7
Deng Xiang, Jiannan He, Hongmei Wang, Fangfang Xiong, Hao Cheng, Junhua Ai, Renfeng Shan, Renhua Wan, Lunli Zhang, Jun Shi
RATIONALE: Progressive familial intrahepatic cholestasis (PFIC) type 3, characterized by high gamma glutamyl transferase (GGT), is an autosomal recessive genetic disease. It often occurs in patients' first years of age. However, high GGT type PFIC is still rare. PATIENT CONCERNS: The present study reports a case of liver transplantation for decompensated liver cirrhosis caused by PFIC type 3. An 18-year-old male presented with a history of abdominal distension and jaundice for 2 months...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29238877/cryptogenic-cholestasis-in-young-and-adults-atp8b1-abcb11-abcb4-and-tjp2-gene-variants-analysis-by-high-throughput-sequencing
#8
Giovanni Vitale, Stefano Gitto, Francesco Raimondi, Alessandro Mattiaccio, Vilma Mantovani, Ranka Vukotic, Antonietta D'Errico, Marco Seri, Robert B Russell, Pietro Andreone
BACKGROUND: Mutations in ATP-transporters ATPB81, ABCB11, and ABCB4 are responsible for progressive familial intrahepatic cholestasis (PFIC) 1, 2 and 3, and recently the gene for tight junction protein-2 (TJP2) has been linked to PFIC4. AIM: As these four genes have been poorly studied in young people and adults, we investigated them in this context here. METHODS: In patients with cryptogenic cholestasis, we analyzed the presence of mutations by high-throughput sequencing...
December 13, 2017: Journal of Gastroenterology
https://www.readbyqxmd.com/read/29174177/long-term-outcomes-of-six-patients-after-partial-internal-biliary-diversion-for-progressive-familial-intrahepatic-cholestasis
#9
Basak Erginel, Feryal Gun Soysal, Ozlem Durmaz, Alaattin Celik, Tansu Salman
BACKGROUND: Partial internal biliary diversion (PIBD) is an alternative approach for the treatment of devastating pruritus in patients with progressive familial intrahepatic cholestasis (PFIC). In these patients quality of life can be improved and progression of liver disease can be delayed while waiting for liver transplantation. The aim of our study was to evaluate six patients with PFIC who have undergone PIBD in long-term follow-up. METHODS: Retrospective review of the records of six patients who underwent PIBD for PFIC between 2008 and 2010 was conducted to evaluate age, growth, clinical and laboratory studies for long-term outcome...
March 2018: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29118315/balancing-medical-and-non-accidental-causes-of-multiple-fractures-in-a-child-with-progressive-familial-intrahepatic-cholestasis
#10
Hisham Abdelrhim, Sami Khan, Paul Heaton, Rajeev Peeka
BACKGROUND All medical practitioners must be vigilant for child abuse and neglect (CAN) so that opportunities to intervene, prevent, and improve outcomes are not missed. However, child abuse is often overlooked in practice, and no sign or pattern of presentation of fractures is absolutely specific for child abuse. CASE REPORT Here, we present the case of a 22-month-old girl with progressive familial intrahepatic cholestasis (PFIC) type 2 who presented with "red flag" fractures indicative of child abuse...
November 9, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/29104077/assessment-of-atp8b1-deficiency-in-pediatric-patients-with-cholestasis-using-peripheral-blood-monocyte-derived-macrophages
#11
Hisamitsu Hayashi, Sotaro Naoi, Takao Togawa, Yu Hirose, Hiroki Kondou, Yasuhiro Hasegawa, Daiki Abukawa, Mika Sasaki, Koji Muroya, Satoshi Watanabe, Satoshi Nakano, Kei Minowa, Ayano Inui, Akinari Fukuda, Mureo Kasahara, Hironori Nagasaka, Kazuhiko Bessho, Mitsuyoshi Suzuki, Hiroyuki Kusuhara
Progressive familial intrahepatic cholestasis type 1 (PFIC1), a rare inherited recessive disease resulting from a genetic deficiency in ATP8B1, progresses to liver failure. Because of the difficulty of discriminating PFIC1 from other subtypes of PFIC based on its clinical and histological features and genome sequencing, an alternative method for diagnosing PFIC1 is desirable. Herein, we analyzed human peripheral blood monocyte-derived macrophages (HMDM) and found predominant expression of ATP8B1 in interleukin-10 (IL-10)-induced M2c, a subset of alternatively activated macrophages...
January 2018: EBioMedicine
https://www.readbyqxmd.com/read/29023813/dual-catenin-loss-in-murine-liver-causes-tight-junctional-deregulation-and-progressive-intrahepatic-cholestasis
#12
Tirthadipa Pradhan-Sundd, Lili Zhou, Ravi Vats, An Jiang, Laura Molina, Sucha Singh, Minakshi Poddar, Jacquelyn M Russell, Donna B Stolz, Michael Oertel, Udayan Apte, Simon Watkins, Sarangarajan Ranganathan, Kari N Nejak-Bowen, Prithu Sundd, Satdarshan P Monga
β-Catenin, the downstream effector of the Wnt signaling, plays important roles in hepatic development, regeneration and tumorigenesis. However, its role at hepatocyte adherens junctions (AJ) is relatively poorly understood, chiefly due to spontaneous compensation by γ-catenin. Here, we simultaneously ablate β- and γ-catenin expression in mouse liver by interbreeding β-catenin-γ-catenin double-floxed mice and albumin-cre transgenic mice. Double knockout mice (DKO) show failure to thrive, impaired hepatocyte differentiation, cholemia, ductular reaction, progressive cholestasis, inflammation, fibrosis and tumorigenesis, which was associated with deregulation of tight junctions (TJ) and bile acid transporters, leading to early morbidity and mortality, a phenotype reminiscent of Progressive Familial Intrahepatic Cholestasis (PFIC)...
October 10, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28965883/nuclear-receptor-fxr-bile-acids-and-liver-damage-introducing-the-progressive-familial-intrahepatic-cholestasis-with-fxr-mutations
#13
REVIEW
Marica Cariello, Elena Piccinin, Oihane Garcia-Irigoyen, Carlo Sabbà, Antonio Moschetta
The nuclear receptor farnesoid X receptor (FXR) is the master regulator of bile acids (BAs) homeostasis since it transcriptionally drives modulation of BA synthesis, influx, efflux, and detoxification along the enterohepatic axis. Due to its crucial role, FXR alterations are involved in the progression of a plethora of BAs associated inflammatory disorders in the liver and in the gut. The involvement of the FXR pathway in cholestasis development and management has been elucidated so far with a direct role of FXR activating therapy in this condition...
April 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28839429/partial-external-biliary-diversion-in-bile-salt-export-pump-deficiency-association-between-outcome-and-mutation
#14
Philipp Ellinger, Jan Stindt, Carola Dröge, Katharina Sattler, Claudia Stross, Stefanie Kluge, Diran Herebian, Sander H J Smits, Martin Burdelski, Sebastian Schulz-Jürgensen, Antje Ballauff, Jan Schulte Am Esch, Ertan Mayatepek, Dieter Häussinger, Ralf Kubitz, Lutz Schmitt
AIM: To investigate the relation of two different mutations to the outcome of partial external biliary diversion (PEBD) in severe bile salt export pump (BSEP) deficiency. METHODS: Mutations in the gene encoding BSEP leading to severe BSEP deficiency in two unrelated patients were identified by genomic sequencing. Native liver biopsies and transiently transfected human embryonic kidney (HEK) 293 cells expressing either wild-type or mutated BSEP were subjected to immunofluorescence analysis to assess BSEP transporter localization...
August 7, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/28838453/cholestasis-after-pediatric-liver-transplantation-recurrence-of-a-progressive-familial-intrahepatic-cholestasis-phenotype-as-a-rare-differential-diagnosis-a-case-report
#15
B Prusinskas, S Kathemann, D Pilic, B Hegen, P Küster, V Keitel, D Häussinger, R Büscher, H A Baba, P F Hoyer, E Lainka
INTRODUCTION: Nonobstructive cholestasis after pediatric liver transplantation is a common diagnostic and therapeutic dilemma. We describe a girl with neonatal cholestasis because of progressive familial intrahepatic cholestasis 2 (PFIC-2) and presence of a homozygous splice site mutation in the ABCB11 gene. Liver transplantation was performed because of end-stage liver disease at the age of 6. Cholestasis with normal gamma-glutamyl transferase (GGT) developed 8 years after liver transplantation...
September 2017: Transplantation Proceedings
https://www.readbyqxmd.com/read/28757171/genetic-determinants-of-cholangiopathies-molecular-and-systems-genetics
#16
REVIEW
Matthias C Reichert, Rabea A Hall, Marcin Krawczyk, Frank Lammert
Familial cholangiopathies are rare but potentially severe diseases. Their spectrum ranges from fairly benign conditions as, for example, benign recurrent intrahepatic cholestasis to low-phospholipid associated cholelithiasis and progressive familial intrahepatic cholestasis (PFIC). Many cholangiopathies such as primary biliary cholangitis (PBC) or primary sclerosing cholangitis (PSC) affect first the bile ducts ("ascending pathophysiology") but others, such as PFIC, start upstream in hepatocytes and cause progressive damage "descending" down the biliary tree and leading to end-stage liver disease...
April 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28583322/ocular-findings-in-patients-with-cholestatic-disorders-of-infancy-a-single-centre-experience
#17
Hanaa El-Karaksy, Dalia Hamed, Hanan Fouad, Engy Mogahed, Heba Helmy, Fotouh Hasanain
BACKGROUND AND STUDY AIMS: Neonatal cholestasis can be associated with ocular findings that might aid in its diagnosis, e.g., Alagille syndrome (AGS) and Niemann Pick disease (NPD). We aimed to investigate the frequency of ocular manifestations in infants with cholestasis. PATIENTS AND METHODS: This cross-sectional study included cholestatic infants presenting to the Paediatric Hepatology Unit, Cairo University Paediatric Hospital, Cairo, Egypt. All infants underwent examination of lid, ocular motility, anterior and posterior segments and measurement of intraocular pressure, cycloplegic refraction, ocular ultrasonography and vision...
June 2, 2017: Arab Journal of Gastroenterology: the Official Publication of the Pan-Arab Association of Gastroenterology
https://www.readbyqxmd.com/read/28566572/importance-of-reverse-translational-research-rtr
#18
REVIEW
Yuichi Sugiyama
When events lead to clinical problems, the mechanisms involved often remain unclear. This is true for medications and therapies, in addition to problems inherent in an underlying disease. However, the recent development of modeling and metric methods makes it possible to estimate the relationship between side effects and various factors to explain inter-individual differences, such as genetic polymorphisms, co-administered drugs, age, gender, dysfunction of the liver/kidney based upon the database for side effects [such as Food and Drug Administration-Adverse Event Reporting System (FDA-AERS)] and the database in a patient's medical records...
2017: Yakugaku Zasshi: Journal of the Pharmaceutical Society of Japan
https://www.readbyqxmd.com/read/28497004/progressive-familial-intrahepatic-cholestasis-type-2-in-an-indian-child
#19
Ira Shah, Sujeet Chilkar
Progressive familial intrahepatic cholestasis (PFIC) is a chronic cholestasis syndrome that begins in infancy and usually progresses to cirrhosis within the first decade of life. There are three varieties of PFIC described: PFIC-1 occurs due to mutations in the ATP8B1 gene mapped to 18q21.31, PFIC-2 due to mutations in ABCB11 mapped to 2q24, and PFIC-3 due to mutations in ABCB4 located on 7q21.12. We report an Indian child whose mutation analysis was suggestive of PFIC-2. He underwent a biliary diversion at 3½ years of age but subsequently died secondary to massive hematemesis...
June 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28476903/endoscopic-nasobiliary-drainage-an-effective-treatment-option-for-benign-recurrent-intrahepatic-cholestasis-bric
#20
Ashok Choudhury, Anand V Kulkarni, Bishnupriya Sahoo, Chhagan Bihari
Benign recurrent intrahepatic cholestasis (BRIC) is characterised by recurrent episodes of jaundice, severe pruritus and low or normal serum γ-glutamyltransferase activity lasting from several weeks to months. BRIC is an autosomal recessive disorder caused by the mutation in either of the two hepatic transporter genes-ATP8B1 or ABCB11 gene. The disease is very well known for episodic flare of jaundice with cholestatic symptoms that are spontaneous or perpetuated by acute insults, followed by self-recovery...
May 5, 2017: BMJ Case Reports
keyword
keyword
102130
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"