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Liver disease associated cystic fibrosis

Samantha A Woodruff, Marci K Sontag, Frank J Accurso, Ronald J Sokol, Michael R Narkewicz
BACKGROUND: Prevalence and risks for elevated liver enzymes have not been studied systematically in children with CF identified by newborn screen. METHODS: 298 CF children identified by newborn screen since 1982. AST, ALT and GGT tested at annual visits. Percent of children with 1 or ≥2 values of elevated AST, ALT and GGT determined. Relationship of liver enzymes to clinical factors or subsequent liver disease was analyzed RESULTS: At least one abnormal value for AST (63%), ALT (93%) and ALT ≥1...
August 20, 2016: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
K P Srikanth, Inusha Panigrahi, Babu Ram Thapa, Kim Vaiphei
We present a rare presentation of cystic fibrosis with neonatal cholestasis. Histological features of mucoviscidosis were present in liver involving the biliary tract, intestinal mucosa, pancreas, and lung. Besides, there was a rare association with autosomal dominant type of polycystic renal disease.
July 2016: Indian Journal of Pathology & Microbiology
C Lemaitre, S Dominique, E Billoud, M Eliezer, H Montialoux, M Quillard, G Riachi, E Koning, H Morisse-Pradier, G Savoye, C Savoye-Collet, O Goria
Background. Cystic fibrosis-associated liver disease (CFLD) is a major cause of death. The objective of our retrospective study was to describe the relevance of magnetic resonance imaging (MRI) and liver stiffness measurement (LSM) for CFLD evaluation. Methods. All cystic fibrosis adult patients evaluated by MRI and LSM were included. MR signs of portal hypertension (PHT), dysmorphia, or cholangitis were collected and LSM expressed in kPa and Metavir. Results. Of 25 patients, 52% had abnormal MRI. Median LSM was 5...
2016: Canadian Respiratory Journal: Journal of the Canadian Thoracic Society
Carla Colombo, Andrea Crosignani, Gianfranco Alicandro, Wujuan Zhang, Arianna Biffi, Valentina Motta, Fabiola Corti, Kenneth D R Setchell
OBJECTIVE: To evaluate the fasting and postprandial serum bile acid composition in patients with cystic fibrosis-associated liver disease (CFLD) after chronic administration of ursodeoxycholic acid (UDCA) (20 mg/kg/day). The aim was to specifically focus on the extent of biotransformation of UDCA to its hepatotoxic metabolite, lithocholic acid, because of recent concerns regarding the safety of long-term, high-dose UDCA treatment for CFLD. STUDY DESIGN: Twenty patients with CFLD (median age 16 years, range: 2...
October 2016: Journal of Pediatrics
N Armaghanian, J C Brand-Miller, T P Markovic, K S Steinbeck
BACKGROUND: Hypoglycaemia in CF in the absence of diabetes or glucose lowering therapies is a phenomenon that is receiving growing attention in the literature. These episodes are sometimes symptomatic and likely have variable aetiologies. Our first aim was to conduct a systematic review of the literature to determine what is known about hypoglycaemia in CF. Our second aim was to assess evidence based guidelines for management strategies. METHODS: A comprehensive search of databases and guideline compiler entities was performed...
May 2016: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
Anne Munck, Corinne Alberti, Carla Colombo, Nataliya Kashirskaya, Helmut Ellemunter, Maria Fotoulaki, Roderick Houwen, Eddy Robberecht, Priscilla Boizeau, Michael Wilschanski
BACKGROUND: Distal intestinal obstruction syndrome (DIOS) is a specific complication of cystic fibrosis. METHODS: A study was performed in 10 countries to prospectively evaluate the incidence, associated factors, and treatment modalities in children and adults. RESULTS: 102 patients presented 112 episodes. The incidence of DIOS was similar in children and adults. Medical treatment failed only in cases of complete DIOS (11%). Children with meconium ileus had a higher rate of surgery for DIOS (15% vs...
July 2016: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
Sławomira Drzymała-Czyż, Katarzyna Jończyk-Potoczna, Aleksandra Lisowska, Marek Stajgis, Jarosław Walkowiak
BACKGROUND: Ursodeoxycholic acid (UDCA) supplementation is recommended for cystic fibrosis (CF) patients with associated liver disease. However, its effect on fat digestion and absorption is not known. MATERIALS AND METHODS: In 23 patients with mild liver involvement, a C-mixed triglyceride breath test was performed on UDCA supplementation (with and without pancreatic enzymes - standard and increased dose) and after 1 month of UDCA withdrawal. Cumulative percentage dose recovery [CPDR; median (interquartile range)] has been considered to reflect lipid digestion and absorption...
June 2016: European Journal of Gastroenterology & Hepatology
Wendy L van der Woerd, Catharina G K Wichers, Anna L Vestergaard, Jens Peter Andersen, Coen C Paulusma, Roderick H J Houwen, Stan F J van de Graaf
BACKGROUND & AIMS: ATP8B1 deficiency is an autosomal recessive liver disease characterized by intrahepatic cholestasis. ATP8B1 mutation p.I661T, the most frequent mutation in European patients, results in protein misfolding and impaired targeting to the plasma membrane. Similarly, mutations in cystic fibrosis transmembrane conductance regulator (CFTR), associated with cystic fibrosis, impair protein folding and trafficking. The aim of this study was to investigate whether compounds that rescue CFTR F508del trafficking are capable of improving p...
June 2016: Journal of Hepatology
Odile Cabaret, Christine Bonnal, Florence Canoui-Poitrine, Aurélie Emirian, Geoffray Bizouard, Eric Levesque, Bernard Maitre, Vincent Fihman, Jean-Winoc Decousser, Françoise Botterel
Concomitant lung colonization by Aspergillus fumigatus and Stenotrophomonas maltophilia was reported mainly in patients with cystic fibrosis (CF) and immunocompromised patients. The aim of the study was to assess the frequency of co-culture of A. fumigatus and S. maltophilia in respiratory samples of hospitalized patients, and to determine its associated factors. Between 2007 and 2011, all patients who had A. fumigatus in their respiratory samples were retrospectively enrolled in the study. Their clinical and laboratory data, including the presence of S...
May 2016: Journal of Medical Microbiology
Oded Breuer, Eyal Shteyer, Michael Wilschanski, Zeev Perles, Malena Cohen-Cymberknoh, Eitan Kerem, David Shoseyov
Hepatopulmonary syndrome (HPS) is a liver-induced lung disorder defined as a triad of liver disease, pulmonary vascular dilatation, and a defect in oxygenation. It can complicate chronic liver disease of any etiology, but is most commonly associated with portal hypertension. Severe liver disease with portal hypertension is present in 2% to 8% of patients with cystic fibrosis (CF), but to date, to our knowledge, only one patient with CF has been reported to suffer from HPS. Here, we describe two patients with CF diagnosed with HPS, one subsequent to unresolved hypoxemia and the other following screening for HPS performed in our center...
February 2016: Chest
M Cornberg, B Schlevogt, J Rademacher, A Schwarz, M Sandherr, G Maschmeyer
This article is concerned with the important topic of infections associated with organ transplantation and includes a discussion on four subtopics. The first section describes the current options in the prevention and therapy of viral hepatitis in association with liver transplantation. Infections with hepatitis B, C, D (delta) and E are discussed with special emphasis on the interferon-free treatment of hepatitis C with the new antiviral drugs.The second section deals with Pseudomonas aeruginosa (PA) infections following lung transplantation (LuTx), which is one of the most frequently detected pathogens in the airway after LuTx...
January 2016: Der Internist
Teresa Cañas, Araceli Maciá, Rosa Ana Muñoz-Codoceo, Teresa Fontanilla, Patricia González-Rios, María Miralles, Gloria Gómez-Mardones
Liver disease associated with cystic fibrosis (CFLD) is the second cause of mortality in these patients. The diagnosis is difficult because none of the available tests are specific enough. Noninvasive elastographic techniques have been proven to be useful to diagnose hepatic fibrosis. Acoustic radiation force impulse (ARFI) imaging is an elastography imaging system. The purpose of the work was to study the utility of liver and spleen ARFI Imaging in the detection of CFLD. Method. 72 patients with cystic fibrosis (CF) were studied and received ARFI imaging in the liver and in the spleen...
2015: BioMed Research International
Lela Lackey, Evonne McArthur, Alain Laederach
Genome-wide association studies aim to correlate genotype with phenotype. Many common diseases including Type II diabetes, Alzheimer's, Parkinson's and Chronic Obstructive Pulmonary Disease (COPD) are complex genetic traits with hundreds of different loci that are associated with varied disease risk. Identifying common features in the genes associated with each disease remains a challenge. Furthermore, the role of post-transcriptional regulation, and in particular alternative splicing, is still poorly understood in most multigenic diseases...
2015: PloS One
Andrea D Praticò, Elena R Praticò, Novella Rotolo, Stefania Salafia, Chiara Franzonello, Salvatore Leonardi
Today the knowledge of genotype-phenotype correlation in cystic fibrosis is enriched by the growing discoveries of new mutations of the CFTR gene. Although the combination of two severe mutations usually leads to the classic disease (pulmonary and pancreatic insufficiency, sterility, nasal polyposis), the presence of a complex genotype characterized by severe and milder mutations or polymorphism can cause a hidden disease, which is often asymptomatic at early ages. We report on a case of a 15 years old boy, in whom the only clinical signs of CF were chronic hypertransaminasemia and hyperbilirubinemia, and in whom it was demonstrated the presence of the mutations F508del associated with TG11-9T-470M in one allele and TG12-5T-470V in the other allele...
November 2015: Annals of Hepatology
Michal Shteinberg, Joseph Rivlin, Michal Gur, Muriel Konopnicki, Nili Stein, Michael M Tunney, J Stuart Elborn, Damian G Downey, Elinor Johnston, Hadar Shalom, Andrew Levy
Haptoglobin (Hp), a heme-Iron chelator, has different isoforms which are associated with variable tendency toward infections: Hp 1-1, Hp 2-1, and Hp 2-2. Cystic fibrosis (CF) outcomes are variable and influenced by genetic and environmental factors. The aim of this study was to determine whether Hp phenotype influenced disease severity in CF. One hundred forty-two CF patients from two centers were analyzed for Haptoglobin phenotype using gel electrophoresis of hemoglobin enriched serum. Clinical and microbiological data including bacterial colonization status, lung function, presence of CF-related diabetes and liver disease, rate of exacerbation, and mortality were compared between Hp phenotype groups...
December 2015: Lung
Daniel H Leung, Wen Ye, Jean P Molleston, Alexander Weymann, Simon Ling, Shruti M Paranjape, Rene Romero, Sara Jane Schwarzenberg, Joseph Palermo, Estella M Alonso, Karen F Murray, Bruce C Marshall, Averell H Sherker, Marilyn J Siegel, Rajesh Krishnamurthy, Roger Harned, Boaz Karmazyn, John C Magee, Michael R Narkewicz
OBJECTIVE: To investigate the relationship between abdominal ultrasound findings and demographic, historical, and clinical features in children with cystic fibrosis (CF). STUDY DESIGN: Children age 3-12 years with CF without known cirrhosis, were enrolled in a prospective, multicenter study of ultrasound to predict hepatic fibrosis. Consensus ultrasound patterns were assigned by 3 radiologists as normal, heterogeneous, homogeneous, or cirrhosis. Data were derived from direct collection and US or Toronto CF registries...
October 2015: Journal of Pediatrics
Daniel H Leung, Mahjabeen Khan, Charles G Minard, Danielle Guffey, Louise E Ramm, Andrew D Clouston, Gregory Miller, Peter J Lewindon, Ross W Shepherd, Grant A Ramm
UNLABELLED: Up to 10% of cystic fibrosis (CF) children develop cirrhosis by the first decade. We evaluated the utility of two simple biomarkers, aspartate aminotransferase to platelet ratio index (APRI) and FIB-4, in predicting degree of fibrosis in pediatric CF liver disease (CFLD) validated by liver biopsy. In this retrospective, cross-sectional study, 67 children with CFLD had dual-pass liver biopsies and 104 age- and sex-matched CF children without liver disease (CFnoLD) had serum to calculate APRI and FIB-4 collected at enrollment...
November 2015: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
Roberto Scirpo, Romina Fiorotto, Ambra Villani, Mariangela Amenduni, Carlo Spirli, Mario Strazzabosco
UNLABELLED: Cystic fibrosis-associated liver disease is a chronic cholangiopathy that negatively affects the quality of life of cystic fibrosis patients. In addition to reducing biliary chloride and bicarbonate secretion, up-regulation of toll-like receptor 4/nuclear factor kappa light-chain-enhancer of activated B cells (NF-κB)-dependent immune mechanisms plays a major role in the pathogenesis of cystic fibrosis-associated liver disease and may represent a therapeutic target. Nuclear receptors are transcription factors that regulate several intracellular functions...
November 2015: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
Fotios Sampaziotis, Miguel Cardoso de Brito, Pedro Madrigal, Alessandro Bertero, Kourosh Saeb-Parsy, Filipa A C Soares, Elisabeth Schrumpf, Espen Melum, Tom H Karlsen, J Andrew Bradley, William T H Gelson, Susan Davies, Alastair Baker, Arthur Kaser, Graeme J Alexander, Nicholas R F Hannan, Ludovic Vallier
The study of biliary disease has been constrained by a lack of primary human cholangiocytes. Here we present an efficient, serum-free protocol for directed differentiation of human induced pluripotent stem cells into cholangiocyte-like cells (CLCs). CLCs show functional characteristics of cholangiocytes, including bile acids transfer, alkaline phosphatase activity, γ-glutamyl-transpeptidase activity and physiological responses to secretin, somatostatin and vascular endothelial growth factor. We use CLCs to model in vitro key features of Alagille syndrome, polycystic liver disease and cystic fibrosis (CF)-associated cholangiopathy...
August 2015: Nature Biotechnology
Li Li, Shawn Somerset
An increased prevalence of cystic fibrosis (CF) related complications such as impaired bone health and diabetes has accompanied increased survival of patients with CF. This review was conducted to determine the extent to which adults with CF are meeting current nutrition recommendations for micronutrients in association with CF-related complications management. Although dietary intake and nutritional status in CF has improved significantly in recent decades, micronutrient status seems to have diverged. While vitamin A and E intakes appear adequate, frequent vitamin D and K deficiency/insufficiency and compromised bone health in CF, occurs despite supplementation...
August 2016: Clinical Nutrition: Official Journal of the European Society of Parenteral and Enteral Nutrition
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