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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
Alice Thébaut, Dalila Habes, Frédéric Gottrand, Christine Rivet, Joseph Cohen, Dominique Debray, Emmanuel Jacquemin, Emmanuel Gonzales
BACKGROUNDS/AIM: 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...
August 24, 2016: Journal of Pediatric Gastroenterology and Nutrition
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...
August 17, 2016: Pediatric Transplantation
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...
August 17, 2016: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
Giovanni Vitale, Martina Pirillo, Vilma Mantovani, Elena Marasco, Adelia Aquilano, Nesrine Gamal, Paola Francalanci, Fabio Conti, Pietro Andreone
 Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of autosomal recessive cholestatic diseases of childhood and represents the main indication for liver transplantation at this age; PFIC2 involves ABCB11 gene, that encodes the ATPdependent canalicular bile salt export pump (BSEP). Benign intrahepatic cholestasis (BRIC) identifies a group of diseases involving the same genes and characterized by intermittent attacks of cholestasis with no progression to liver cirrhosis. Diagnosis with standard sequencing techniques is expensive and available only at a few tertiary centers...
September 2016: Annals of Hepatology
Ralf Kubitz, Carola Dröge, Stefanie Kluge, Jan Stindt, Claudia Stross, Dieter Häussinger, Christa Flechtenmacher, Daniel Wenning, Ulrike Teufel, Claus Peter Schmitt, Guido Engelmann
PFIC due to BSEP mutations (PFIC type 2) often necessitates OLT. It has recently been recognized that some PFIC-2 patients develop phenotypic disease recurrence post-OLT due to the appearance of anti-BSEP antibodies. Here, we describe a boy who became cholestatic four yr after OLT during modification of immunosuppression. Canalicular antibody deposits were detected in biopsies of the transplant and antibodies specifically reacting with BSEP were identified at high titers in his serum. These antibodies bound extracellular epitopes of BSEP and inhibited BS transport and were assumed to cause disease recurrence...
July 1, 2016: Pediatric Transplantation
Ashley Mehl, Humberto Bohorquez, Maria-Stella Serrano, Gretchen Galliano, Trevor W Reichman
Progressive familial intrahepatic cholestasis (PFIC) is a constellation of inherited disorders that result in the impairment of bile flow through the liver that predominantly affects children. The accumulation of bile results in progressive liver damage, and if left untreated leads to end stage liver disease and death. Patients often present with worsening jaundice and pruritis within the first few years of life. Many of these patients will progress to end stage liver disease and require liver transplantation...
June 24, 2016: World Journal of Transplantation
Carola Dröge, Heiner Schaal, Guido Engelmann, Daniel Wenning, Dieter Häussinger, Ralf Kubitz
The bile salt export pump BSEP mediates bile formation. Over 150 BSEP mutations are associated with progressive familial intrahepatic cholestasis type 2 (PFIC-2), with few characterised specifically. We examined liver tissues from two PFIC-2 patients compound heterozygous for the splice-site mutation c.150 + 3A > C and either c.2783_2787dup5 resulting in a frameshift with a premature termination codon (child 1) or p.R832C (child 2). Splicing was analysed with a minigene system and mRNA sequencing from patients' livers...
2016: Scientific Reports
W Krois, P Feil, W-D Huber, A Hojreh, W Rebhandl, M Metzelder
No abstract text is available yet for this article.
March 2016: Klinische Pädiatrie
Irena Jankowska, Piotr Czubkowski, Aldona Wierzbicka, Joanna Pawłowska, Piotr Kaliciński, Piotr Socha
BACKGROUND AND AIM: 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 PFIC patients 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...
March 7, 2016: Journal of Pediatric Gastroenterology and Nutrition
Mohamed A El-Guindi, Mostafa M Sira, Mohsen H Hussein, Nermine A Ehsan, Nancy M Elsheikh
UNLABELLED:  Background. Diagnosis of progressive familial intrahepatic cholestasis (PFIC) is a challenging matter that involves the summation of clinical, laboratory, radiological, and liver histological parameters; in addition to specific investigations to exclude other causes of neonatal cholestasis. The aim of this study was to evaluate liver tissue immunohistochemistry of bile salt export pump (BSEP) and multidrug resistance 3 (MDR3) proteins in differentiating PFIC from other causes of neonatal cholestasis, particularly, when genotyping is unavailable...
March 2016: Annals of Hepatology
Ronald J Sokol
No abstract text is available yet for this article.
March 2016: Journal of Pediatric Gastroenterology and Nutrition
Hugo M Oliveira, Cláudia Pereira, Ermelinda Santos Silva, Jorge Pinto-Basto, Helena Pessegueiro Miranda
BACKGROUND: There are three types of progressive familial intrahepatic cholestasis (PFIC). Type 3 is characterized by elevated gamma-glutamyl transferase (γ-GT) and it can be diagnosed in adolescence/adulthood. The genetic defect of PFIC 3 appears to explain the pathogenesis of intrahepatic cholestasis of pregnancy (ICP). AIMS: Draw attention to this rare disease, especially in adulthood, and clarify the association between ICP and PFIC 3. RESULTS: We describe a series of cases from a Portuguese northern family with two brothers presenting chronic cholestasis since adolescence...
February 2016: Digestive and Liver Disease
Isabella Giovannoni, Francesco Callea, Emanuele Bellacchio, Giuliano Torre, Jean De Ville De Goyet, Paola Francalanci
Familial intrahepatic cholestases (FICs) are a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. Three distinct forms are described: FIC1 and FIC2, associated with low/normal GGT level in serum, which are caused by impaired bile salt secretion due to defects in ATP8B1 encoding the FIC1 protein and defects in ABCB11 encoding bile salt export pump protein, respectively; FIC3, linked to high GGT level, involves impaired biliary phospholipid secretion due to defects in ABCB4, encoding multidrug resistance 3 protein...
2015: PloS One
Jan Stindt, Stefanie Kluge, Carola Dröge, Verena Keitel, Claudia Stross, Ulrich Baumann, Florian Brinkert, Anil Dhawan, Guido Engelmann, Rainer Ganschow, Patrick Gerner, Enke Grabhorn, A S Knisely, Khalid A Noli, Ieva Pukite, Ross W Shepherd, Takehisa Ueno, Lutz Schmitt, Constanze Wiek, Helmut Hanenberg, Dieter Häussinger, Ralf Kubitz
UNLABELLED: Progressive familial intrahepatic cholestasis type 2 (PFIC-2) is caused by mutations in ABCB11, encoding the bile salt export pump (BSEP). In 2009, we described a child with PFIC-2 who developed PFIC-like symptoms after orthotopic liver transplantation (OLT). BSEP-reactive antibodies were demonstrated to account for disease recurrence. Here, we characterize the nature of this antibody response in 7 more patients with antibody-induced BSEP deficiency (AIBD). Gene sequencing and immunostaining of native liver biopsies indicated absent or strongly reduced BSEP expression in all 7 PFIC-2 patients who suffered from phenotypic disease recurrence post-OLT...
February 2016: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
Mithat Gunaydin, Burak Tander, Dilek Demirel, Gonul Caltepe, Ayhan Gazi Kalayci, Esra Eren, Unal Bicakcı, Riza Rizalar, Ender Ariturk, Ferit Bernay
BACKGROUND: Progressive familial intrahepatic cholestasis (PFIC) is a cholestatic liver disease of childhood. Pruritus resulting from increased bile salts in serum might not respond to medical treatment, and internal or external biliary drainage methods have been described. In this study, we aimed to evaluate different internal drainage techniques in patients with PFIC. PATIENTS AND METHODS: Between 2009 and 2014, seven children (4 male, 3 female, 3months-5years old), (median 2years of age) with PFIC were evaluated...
March 2016: Journal of Pediatric Surgery
Wendy L van der Woerd, Freddy T Kokke, David C van der Zee, Roderick H Houwen
BACKGROUND: Progressive familial intrahepatic cholestasis (PFIC) with low gamma-glutamyl transpeptidase (GGT) and Alagille syndrome are associated with persistent cholestasis and severe pruritus. Various types of biliary diversion have been used to reduce this pruritus and prevent liver dysfunction. We report our experience concerning the efficacy and safety of total biliary diversion (TBD) as an additional treatment option. METHODS: TBD was performed in four PFIC patients and one patient with Alagille syndrome, and was accomplished by anastomosing a jejunal segment to the choledochal duct terminating as an end stoma, or by disconnecting the choledochal duct after previous cholecystojejunocutaneostomy...
November 2015: Journal of Pediatric Surgery
Bernardo Frider, Amalia Castillo, Raquel Gordo-Gilart, Andrés Bruno, Marcelo Amante, Luis Alvarez, Verónica Mathet
INTRODUCTION: Progressive familial intrahepatic cholestasis type 3 (PFIC-3) is a severe liver disorder associated with inherited dysfunction of multidrug resistance protein 3 (MDR3/ABCB4), which functions as a phospholipid floppase, translocating phosphatidylcholine from the inner to the outer hemileaflet of the canalicular membrane of hepatocytes. MDR3 deficiency results in a disbalanced bile which may damage the luminal membrane of cells of the hepatobiliary system. We evaluated clinical, biochemical and histological improvement in a genetically proven PFIC-3 patient after long-term ursodeoxycholic acid (UDCA) administration...
September 2015: Annals of Hepatology
Clavia Ruth Wooton-Kee, Ajay K Jain, Martin Wagner, Michael A Grusak, Milton J Finegold, Svetlana Lutsenko, David D Moore
Wilson's disease (WD) is an autosomal recessive disorder that results in accumulation of copper in the liver as a consequence of mutations in the gene encoding the copper-transporting P-type ATPase (ATP7B). WD is a chronic liver disorder, and individuals with the disease present with a variety of complications, including steatosis, cholestasis, cirrhosis, and liver failure. Similar to patients with WD, Atp7b⁻/⁻ mice have markedly elevated levels of hepatic copper and liver pathology. Previous studies have demonstrated that replacement of zinc in the DNA-binding domain of the estrogen receptor (ER) with copper disrupts specific binding to DNA response elements...
September 2015: Journal of Clinical Investigation
Gavin R Sun, Michele Burns
Hepatic cirrhosis is an important cause of morbidity and mortality. An unusual case of cirrhosis and portal hypertension in an 18-year-old patient secondary to Progressive Intrahepatic Cholestasis is discussed. The clinical and biochemical findings are discussed and a clinical approach to determining the underlying etiology of cirrhosis is outlined. Significant complications of portal hypertension include ascites, spontaneous bacterial peritonitis, hepatorenal syndrome, varices, and hepatic encephalopathy. A clinical approach to these complications of cirrhosis is presented...
2015: Case Reports in Medicine
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