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https://www.readbyqxmd.com/read/29118315/balancing-medical-and-non-accidental-causes-of-multiple-fractures-in-a-child-with-progressive-familial-intrahepatic-cholestasis
#1
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. Biochemistry showed vitamin D deficiency and a skeletal survey revealed rickets and multiple pathological fractures...
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
#2
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...
October 7, 2017: EBioMedicine
https://www.readbyqxmd.com/read/29023813/dual-catenin-loss-in-murine-liver-causes-tight-junctional-deregulation-and-progressive-intrahepatic-cholestasis
#3
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
#4
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...
September 29, 2017: 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
#5
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
#6
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
#7
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...
July 27, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28583322/ocular-findings-in-patients-with-cholestatic-disorders-of-infancy-a-single-centre-experience
#8
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
#9
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
#10
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
#11
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
https://www.readbyqxmd.com/read/28223721/current-and-future-therapies-for-inherited-cholestatic-liver-diseases
#12
REVIEW
Wendy L van der Woerd, Roderick Hj Houwen, Stan Fj van de Graaf
Familial intrahepatic cholestasis (FIC) comprises a group of rare cholestatic liver diseases associated with canalicular transport defects resulting predominantly from mutations in ATP8B1, ABCB11 and ABCB4. Phenotypes range from benign recurrent intrahepatic cholestasis (BRIC), associated with recurrent cholestatic attacks, to progressive FIC (PFIC). Patients often suffer from severe pruritus and eventually progressive cholestasis results in liver failure. Currently, first-line treatment includes ursodeoxycholic acid in patients with ABCB4 deficiency (PFIC3) and partial biliary diversion in patients with ATP8B1 or ABCB11 deficiency (PFIC1 and PFIC2)...
February 7, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/28195083/progressive-familial-intrahepatic-cholestasis-a-comprehensive-review-of-a-challenging-liver-disease
#13
REVIEW
Kavita Gaur, Puja Sakhuja
Cholestatic liver disease in children represents a diagnostic and therapeutic challenge. The requirement of a multidisciplinary approach, high levels of professional expertise, and the costs of genetic testing are a few of the reasons why such patients may suffer for want of an accurate diagnosis. Progressive familial intrahepatic cholestasis (PFIC) is a hereditary cholestatic liver disease, afflicted children often progressing to liver failure. Despite its potential to cause significant morbidity, it has seldom been studied in India...
January 2017: Indian Journal of Pathology & Microbiology
https://www.readbyqxmd.com/read/28119944/liver-transplantation-as-a-treatment-for-severe-refractory-vitamin-e-deficiency-related-to-progressive-familial-intrahepatic-cholestasis-type-2-in-a-pediatric-patient
#14
Elizabeth Collyer, Vera Hupertz, Bijan Eghtesad, Kadakkal Radhakrishnan
Refractory vitamin E deficiency is thought to have irreversible effects on neurologic function. We report an adolescent boy with severe refractory vitamin E deficiency due to progressive familial intrahepatic cholestasis (PFIC) type 2. His consequent neurologic dysfunction included severe ataxia, dysmetria, dysarthria, and cranial nerve VI palsy. He underwent liver transplantation at age 13 due to his neurologic dysfunction; and afterward, he had marked improvement in neurologic function. We demonstrate that in a patient with PFIC 2 and severe refractory vitamin E deficiency, liver transplant can improve vitamin E absorption, prevent further neurological sequelae, and reverse prior neurologic dysfunction...
August 2016: ACG Case Reports Journal
https://www.readbyqxmd.com/read/27916445/outcomes-following-partial-external-biliary-diversion-in-patients-with-progressive-familial-intrahepatic-cholestasis
#15
Caroline Lemoine, Tanya Bhardwaj, Lee M Bass, Riccardo A Superina
BACKGROUND/PURPOSE: PFIC is a family of bile acid (BA) transport disorders that may result in serious liver disease requiring transplantation. We reviewed our experience with PEBD as a method to improve liver function and avoid transplantation. METHODS: All patients with PFIC were reviewed. Outcomes included changes in serum BA, conversion to ileal bypass (IB), and survival without transplantation. Statistics were obtained using paired t-test and Wilcoxon test. RESULTS: Thirty-five patients with PFIC were identified...
February 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/27875503/influence-of-partial-external-biliary-diversion-on-the-lipid-profile-in-children-with-progressive-familial-intrahepatic-cholestasis
#16
Irena Jankowska, Piotr Czubkowski, Aldona Wierzbicka, Joanna Pawłowska, Piotr Kaliciński, Piotr Socha
OBJECTIVES: The concentration of bile acids is highly increased in progressive familial intrahepatic cholestasis (PFIC). Bile acids are the end products of cholesterol metabolism, and aid in the absorption of fat-soluble vitamins and dietary fat. The aim of our study was to investigate lipid metabolism in patients with PFIC with focus on the effect of partial external biliary diversion (PEBD). METHODS: In 26 patients with PFIC, who underwent PEBD surgery at the median age of 2...
December 2016: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/27746616/progressive-familial-intrahepatic-cholestasis-pfic-in-indian-children-clinical-spectrum-and-outcome
#17
Sajan Agarwal, Bikrant Bihari Lal, Dinesh Rawat, Archana Rastogi, Kishore G S Bharathy, Seema Alam
OBJECTIVE: To study the clinical and laboratory profile of children with progressive familial intrahepatic cholestasis (PFIC) and evaluate their outcome. METHODS: The study is a retrospective review of all cases diagnosed with PFIC between January 2011 and July 2015. All children underwent histopathological examination and immunostaining. Management was done as per institute's protocol. RESULTS: There were a total of 24 PFIC cases (PFIC 1-2, PFIC 2-19, PFIC 3-3)...
September 2016: Journal of Clinical and Experimental Hepatology
https://www.readbyqxmd.com/read/27557426/sertraline-as-an-additional-treatment-for-cholestatic-pruritus-in-children
#18
Alice Thébaut, Dalila Habes, Frédéric Gottrand, Christine Rivet, Joseph Cohen, Dominique Debray, Emmanuel Jacquemin, Emmanuel Gonzales
OBJECTIVES: Pruritus is a severe symptom accompanying chronic cholestasis. It can be debilitating and difficult to control. In children, first-line treatments are ursodeoxycholic acid and rifampicin. Refractory pruritus may require invasive therapies including liver transplantation. Clinical trials based on small samples of adult patients suggest that serotonin reuptake inhibitors can improve pruritus in cholestatic or uremic disease. We performed a prospective, multicenter study to assess efficiency and safety of the serotonin reuptake inhibitor sertraline in treating children with refractory cholestatic pruritus...
March 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/27534385/total-internal-biliary-diversion-during-liver-transplantation-for-type-1-progressive-familial-intrahepatic-cholestasis-a-novel-approach
#19
V P Mali, A Fukuda, T Shigeta, H Uchida, Y Hirata, T H Rahayatri, H Kanazawa, K Sasaki, J de Ville de Goyet, M Kasahara
LT for PFIC type 1 is often complicated by postoperative diarrhea and recurrent graft steatosis. A 26-month-old female child with cholestatic jaundice, pruritus, diarrhea, and growth retardation revealed total bilirubin 9.1 mg/dL, gamma-glutamyl transpeptidase 64 IU/L, and TBA 295.8 μmol/L. Genetic analysis confirmed ATP8B1 defects. A LT (segment 2, 3 graft) from the heterozygous father was performed. Biliary diversion was performed by a 35-cm jejunum conduit between the graft hepatic duct and the mid-transverse colon...
November 2016: Pediatric Transplantation
https://www.readbyqxmd.com/read/27532546/myo5b-mutations-cause-cholestasis-with-normal-serum-gamma-glutamyl-transferase-activity-in-children-without-microvillous-inclusion-disease
#20
Emmanuel Gonzales, Sarah A Taylor, Anne Davit-Spraul, Alice Thébaut, Nadège Thomassin, Catherine Guettier, Peter F Whitington, Emmanuel Jacquemin
Some patients with microvillus inclusion disease due to myosin 5B (MYO5B) mutations may develop cholestasis characterized by a progressive familial intrahepatic cholestasis-like phenotype with normal serum gamma-glutamyl transferase activity. So far MYO5B deficiency has not been reported in patients with such a cholestasis phenotype in the absence of intestinal disease. Using a new-generation sequencing approach, we identified MYO5B mutations in five patients with progressive familial intrahepatic cholestasis-like phenotype with normal serum gamma-glutamyl transferase activity without intestinal disease...
January 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
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