899 results match your criteria Dubin-Johnson Syndrome


Primary Sclerosing Cholangitis: A Concise Review of Diagnosis and Management.

Dig Dis Sci 2019 Feb 6. Epub 2019 Feb 6.

Section of Gastroenterology, Evans Department of Medicine, Boston University School of Medicine, Suite 7717, 85 E Concord St, Boston, MA, 02118, USA.

Primary sclerosing cholangitis is a rare, chronic cholestatic liver disease characterized by progressive idiopathic stricturing of the biliary system, typically leading to cirrhosis, end-stage liver disease, and colonic or hepatobiliary malignancy. Its presentation is often that of asymptomatic alkaline phosphatase elevation. When symptoms are present, they typically include fatigue, pruritus, or jaundice. Read More

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http://dx.doi.org/10.1007/s10620-019-05484-yDOI Listing
February 2019
1 Read

[Clinical features and ABCC2 genotypic analysis of an infant with Dubin-Johnson syndrome].

Zhongguo Dang Dai Er Ke Za Zhi 2019 Jan;21(1):64-70

Department of Pediatrics, First Affiliated Hospital of Jinan University, Guangzhou 510632, China.

Dubin-Johnson syndrome (DJS) is an autosomal recessive disorder resulting from biallelic mutations of ABCC2 gene, with long-term or intermittent conjugated hyperbilirubinemia being the main clinical manifestation. This paper aims to report the clinical features and ABCC2 genotypes of an infant with DJS. A 9. Read More

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January 2019
1 Read

[Clinical and pathological features of inherited metabolic liver disease in adults].

Authors:
Z Y He H You X Y Zhao

Zhonghua Gan Zang Bing Za Zhi 2018 Dec;26(12):889-893

Liver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing 100050, China.

Inherited metabolic liver disease is a kind of metabolic disorders caused by the interactions between host and environmental factors because of genetic defects. The incidence of inherited metabolic liver disease is low and its clinical manifestations are complex and diverse, which initiates difficulties in clinical diagnosis. In addition, hereditary hemochromatosis and Wilson's disease are common types of metabolic abnormalities, often seem in clinical practice, and early diagnosis and treatment can improve the prognosis. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1007-3418.2018.12.003DOI Listing
December 2018
1 Read

Dubin-Johnson syndrome in Tunisia: Spectrum of a rare disease.

Presse Med 2018 Dec 10. Epub 2018 Dec 10.

Laboratory of Experimental Hepatology, Experimental Medicine Centre, Institute for Clinical and Experimental Medicine, 14021 Prague 4, Czech Republic.

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http://dx.doi.org/10.1016/j.lpm.2018.09.020DOI Listing
December 2018
1 Read

Mutation analysis of the gene in Chinese patients with Dubin-Johnson syndrome.

Exp Ther Med 2018 Nov 3;16(5):4201-4206. Epub 2018 Sep 3.

Liver Research Center, Experimental Center, Beijing Friendship Hospital, Capital Medical University, Beijing 100050, P.R. China.

Dubin-Johnson syndrome (DJS) is a rare, autosomal recessive disorder characterized by predominantly conjugated hyperbilirubinemia, caused by a mutation in the adenosine triphosphate-binding cassette subfamily C member 2 () gene coding the multidrug resistance-associated protein 2 (MRP2) protein. mutations have been identified in patients with DJS worldwide; however, the mutation pattern of in China is not well studied. In the present study, the mutation pattern of the gene in Chinese patients with DJS was investigated. Read More

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http://www.spandidos-publications.com/10.3892/etm.2018.6682
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http://dx.doi.org/10.3892/etm.2018.6682DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6176208PMC
November 2018
7 Reads
0.940 Impact Factor

Novel compound heterozygous ABCC2 variants in patients with Dubin-Johnson syndrome and intrahepatic cholestasis of pregnancy.

Clin Genet 2018 Nov 9;94(5):480-481. Epub 2018 Aug 9.

Laboratoire commun de Biologie et Génétique Moléculaires, APHP, hôpital Saint-Antoine, Paris, France.

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http://dx.doi.org/10.1111/cge.13420DOI Listing
November 2018
2 Reads

Variants Associated with Infantile Cholestatic Syndromes Detected in Extrahepatic Biliary Atresia by Whole Exome Studies: A 20-Case Series from Thailand.

J Pediatr Genet 2018 Jun 16;7(2):67-73. Epub 2018 Feb 16.

Pediatric Surgery Unit, Department of Surgery, Prince of Songkla University, Hat Yai, Songkhla, Thailand.

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. Read More

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http://dx.doi.org/10.1055/s-0038-1632395DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5916803PMC
June 2018
4 Reads

Diagnostic Challenges in Chronic Constrictive Pericarditis.

Rev Port Cir Cardiotorac Vasc 2017 Jul-Dec;24(3-4):160

Hospital de Santa Cruz, Portugal.

Introduction: Chronic constrictive pericarditis (CCP) is a disease that has multiple possible causes and is associated with variable clinical findings, depending on its severity. It develops insidiously, and in many cases, particularly in developed countries, no antecedent diagnosis can be found. These cases are termed idiopathic. Read More

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July 2017
10 Reads

Clinical, Pathologic, and Genetic Features of Neonatal Dubin-Johnson Syndrome: A Multicenter Study in Japan.

J Pediatr 2018 05 28;196:161-167.e1. Epub 2018 Feb 28.

Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.

Objective: To clarify the clinical, pathologic, and genetic features of neonatal Dubin-Johnson syndrome.

Study Design: Ten patients with neonatal Dubin-Johnson syndrome were recruited from 6 pediatric centers in Japan between September 2013 and October 2016. Clinical and laboratory course, macroscopic and microscopic liver findings, and molecular genetic findings concerning ATP-binding cassette subfamily C member 2 (ABCC2) were retrospectively and prospectively examined. Read More

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http://dx.doi.org/10.1016/j.jpeds.2017.12.058DOI Listing
May 2018
7 Reads

Hepatobiliary and Pancreatic: A black liver of Dubin-Johnson syndrome.

J Gastroenterol Hepatol 2018 Mar;33(3):562

Department of Pathology, Chonnam National University Medical School, Gwangju, Korea.

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http://dx.doi.org/10.1111/jgh.14036DOI Listing
March 2018
4 Reads

Diagnostic criteria and contributors to Gilbert's syndrome.

Crit Rev Clin Lab Sci 2018 03 1;55(2):129-139. Epub 2018 Feb 1.

b School of Medical Science and Menzies Health Institute Queensland , Griffith University , Gold Coast , Australia.

Hyperbilirubinemia is a well-known condition in the clinical setting; however, the causes of elevated serum bilirubin are diverse, as are the clinical ramifications of this condition. For example, diagnoses of individuals vary depending on whether they exhibit an unconjugated or conjugated hyperbilirubinemia. Diagnoses can include conditions of disordered bilirubin metabolism (Gilbert's, Crigler-Najjar, Rotor, or Dubin-Johnson syndromes) or an acquired disease, including alcoholic/non-alcoholic fatty liver disease, hepatotropic hepatitis, cirrhosis, or hepato-biliary malignancy. Read More

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http://dx.doi.org/10.1080/10408363.2018.1428526DOI Listing
March 2018
10 Reads

Conjugated hyperbilirubinemia after surgery. A diagnosis of Dubin-Johnson syndrome confirmed by genetic testing.

Rev Esp Enferm Dig 2017 Nov;109(11):801-802

Servicio de Bioquímica Clínica, Hospital Universitario Miguel Servet, España.

Dubin-Johnson syndrome is a rare benign inherited disorder, caused by mutations in ABCC2 gen, and it is characterized by predominantly conjugated hyperbilirubinemia that can be increased by intercurrent infectious illnesses or surgical procedures. We report the case of a 10 year-old patient who showed, after a surgical procedure for peritonitis due to appendicitis, jaundice and predominantly conjugated hyperbilirubinemia, and he was diagnosed with Dubin-Johnson syndrome by genetic testing. Read More

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http://dx.doi.org/10.17235/reed.2017.4989/2017DOI Listing
November 2017
10 Reads

Correction to: Dubin-Johnson syndrome and intrahepatic cholestasis of pregnancy in a Sri Lankan family: a case report.

BMC Res Notes 2017 Oct 5;10(1):492. Epub 2017 Oct 5.

Laboratoire Commun de Biologie et de Génétique Moléculaires, Hôpital Saint-Antoine, 184, rue du Faubourg Saint-Antoine, 75012, Paris, France.

Following publication of the original article [1], the authors requested the following corrections: 1. Author 2-given name should be Dilanthi and family name Warawitage. 2. Read More

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http://dx.doi.org/10.1186/s13104-017-2815-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5629802PMC
October 2017
13 Reads

Dubin-Johnson syndrome and intrahepatic cholestasis of pregnancy in a Sri Lankan family: a case report.

BMC Res Notes 2017 Sep 18;10(1):487. Epub 2017 Sep 18.

Laboratoire Commun de Biologie et de Génétique Moléculaires, Hôpital Saint-Antoine, 184, rue du Faubourg Saint-Antoine, 75012, Paris, France.

Background: Dubin-Johnson syndrome and intrahepatic cholestasis of pregnancy are rare chronic liver disorders. Dubin-Johnson syndrome may manifest as conjugated hyperbilirubinemia, darkly pigmented liver, presence of abnormal pigment in the parenchyma of hepatocytes and abnormal distribution of the coproporphyrin isomers I and III in the urine. Intrahepatic cholestatic jaundice of pregnancy presents as pruritus, abnormal liver biochemistry and increased serum bile acids. Read More

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http://dx.doi.org/10.1186/s13104-017-2811-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5604299PMC
September 2017
17 Reads

Diagnosis and Management of Autoimmune Pancreatitis.

Curr Treat Options Gastroenterol 2017 Dec;15(4):538-547

Department of Gastroenterology and Hepatology, Kansai Medical University Hirakata Hospital, Osaka, Japan.

Opinion Statement: Although autoimmune pancreatitis is a relatively uncommon pancreatic disorder, it is an important consideration in the differential diagnosis of jaundice and pancreatic masses to avoid unnecessary surgical resection. The clinical diagnosis of autoimmune pancreatitis involves considering multiple pieces of information including the pancreatic imaging, serum IgG4 level, presence of characteristic other involvement, and histologic findings. Unlike other pancreatic disorders, this condition rapidly responds to treatment with steroids. Read More

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http://dx.doi.org/10.1007/s11938-017-0147-xDOI Listing
December 2017
6 Reads

Case of a Young Man With Abdominal Pain and Jaundice.

Gastroenterology 2018 Apr 19;154(5):e8-e9. Epub 2017 Jul 19.

Kumamoto Central Hospital, Kumamoto, Japan.

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http://dx.doi.org/10.1053/j.gastro.2017.06.063DOI Listing

Mixed Dubin-Gilbert Syndrome: A Compound Heterozygous Phenotype of Two Novel Variants in Gene.

Chin Med J (Engl) 2017 Apr;130(8):1003-1005

Department of Infectious Diseases, China-Japan Friendship Hospital, Beijing 100029, China.

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http://dx.doi.org/10.4103/0366-6999.204108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5407029PMC
April 2017
2 Reads

Autoimmune Pancreatitis.

Dig Dis Sci 2017 07 1;62(7):1762-1769. Epub 2017 Apr 1.

Division of Gastroenterology and Hepatology, Mayo Clinic, 200 First St SW, Rochester, MN, 55905, USA.

Autoimmune pancreatitis (AIP) is a chronic fibroinflammatory disease of the pancreas that belongs to the spectrum of immunoglobulin G-subclass4-related diseases (IgG4-RD) and typically presents with obstructive jaundice. Idiopathic duct-centric pancreatitis (IDCP) is a closely related but distinct disease that mimics AIP radiologically but manifests clinically most commonly as recurrent acute pancreatitis in young individuals with concurrent inflammatory bowel disease. IgG4 levels are often elevated in AIP and normal in IDCP. Read More

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http://dx.doi.org/10.1007/s10620-017-4541-yDOI Listing
July 2017
1 Read

From Pathogenesis, Clinical Manifestation, and Diagnosis to Treatment: An Overview on Autoimmune Pancreatitis.

Authors:
Ou Cai Shiyun Tan

Gastroenterol Res Pract 2017 19;2017:3246459. Epub 2017 Jan 19.

Department of Gastroenterology, Renmin Hospital of Wuhan University, Wuhan, Hubei, China.

Autoimmune pancreatitis (AIP) is a special type of chronic pancreatitis which is autoimmune mediated. The international consensus diagnostic criteria (ICDC) 2011 proposed two types of AIP: type I is associated with histological pattern of lymphoplasmacytic sclerosing pancreatitis (LPSP), characterized by serum IgG4 elevation, whereas type 2 is named idiopathic duct-centric pancreatitis (IDCP), with granulocytic epithelial lesion (GEL) and immunoglobulin G4 (IgG4) negative. The pathogenic mechanism is unclear now; based on genetic factors, disease specific or related antigens, innate and adaptive immunity may be involved. Read More

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http://dx.doi.org/10.1155/2017/3246459DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5288542PMC
January 2017
4 Reads

A Time-Dependent Model Describes Methotrexate Elimination and Supports Dynamic Modification of MRP2/ABCC2 Activity.

Ther Drug Monit 2017 04;39(2):145-156

*Department of Pharmacology and Toxicology, CHU Limoges; †INSERM UMR 850, University of Limoges, Limoges, France; ‡Laboratory of Biochemistry and Molecular Biology, CHU Tours, Tours, France; §Department of Clinical Hematology, CHU Limoges, Limoges; and ¶Department of Clinical Hematology, La Pitié Salpetrière Hospital, APHP, Paris, France.

Background: Multidrug resistance protein-2 encoded by the ABCC2 gene (MRP2/ABCC2), an efflux transporter expressed at the proximal renal tubule, is rate-limiting for urine excretion of coproporphyrin (UCP) isomers I and III, translating in high UCP [I/(I + III)] ratio in MRP2-deficient patients presenting with the Dubin-Johnson Syndrome. MRP2 is also a major contributor to methotrexate (MTX) clearance. As MTX is both a substrate and an inhibitor of MRP2, time course of the concentrations of MTX in blood could induce functional modification of MRP2 over time, which in turn can modify its own elimination rate. Read More

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http://dx.doi.org/10.1097/FTD.0000000000000381DOI Listing
April 2017
9 Reads

Histopathologic Findings in Autopsies with Emphasis on Interesting and Incidental Findings-A Pathologist's Perspective.

J Clin Diagn Res 2016 Nov 1;10(11):EC08-EC12. Epub 2016 Nov 1.

Professor and HOD, Department of Pathology, JSS Medical College, JSS University , Mysuru, India .

Introduction: Autopsy aids to the knowledge of pathology by unveiling the rare lesions which are a source of learning from a pathologist's perspective Some of them are only diagnosed at autopsy as they do not cause any functional derangement. This study emphasizes the various incidental lesions which otherwise would have been unnoticed during a person's life.

Aim: The aim of this study was to determine the spectrum of histopathological findings including neoplastic lesions related or unrelated to the cause of death. Read More

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http://dx.doi.org/10.7860/JCDR/2016/21106.8850DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5198326PMC
November 2016
1 Read

IMAGES IN CLINICAL MEDICINE. Dubin-Johnson Syndrome.

N Engl J Med 2016 Jul;375(1):e1

Japanese Red Cross Society Himeji Hospital, Himeji, Japan

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http://www.nejm.org/doi/10.1056/NEJMicm1509529
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http://dx.doi.org/10.1056/NEJMicm1509529DOI Listing
July 2016
1 Read

[Autoimmune pancreatitis: An update].

Authors:
T Helmberger

Radiologe 2016 Apr;56(4):363-70

Institut für Diagnostische und Interventionelle Radiologie, Neuroradiologie und Nuklearmedizin, Klinikum Bogenhausen, Städt. Klinikum, Englschalkinger Str. 77, 81925, München, Deutschland.

Clinical/methodical Issue: Autoimmune pancreatitis (AIP) is a rare disease, the pathophysiological understanding of which has been greatly improved over the last years. The most common form, type 1 AIP belongs to the IgG4-related diseases and must be distinguished from type 2 AIP, which is a much rarer entity associated with chronic inflammatory bowel disease. Clinically, there is an overlap with pancreatic cancer. Read More

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http://link.springer.com/10.1007/s00117-016-0096-8
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http://dx.doi.org/10.1007/s00117-016-0096-8DOI Listing
April 2016
3 Reads

Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing.

J Pediatr 2016 Apr 5;171:171-7.e1-4. Epub 2016 Feb 5.

Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.

Objectives: To ascertain a molecular genetic diagnosis for subjects with neonatal/infantile intrahepatic cholestasis (NIIC) by the use of next-generation sequencing (NGS) and to perform a genotype-phenotype correlation.

Study Design: We recruited Japanese subjects with NIIC who had no definitive molecular genetic diagnosis. We developed a diagnostic custom panel of 18 genes, and the amplicon library was sequenced via NGS. Read More

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http://dx.doi.org/10.1016/j.jpeds.2016.01.006DOI Listing
April 2016
31 Reads

Epidemiology, clinical presentation, diagnosis and treatment of autoimmune pancreatitis: A retrospective analysis of 53 patients.

Pancreatology 2016 Jan-Feb;16(1):73-7. Epub 2015 Nov 27.

II. Medizinische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Ismaninger Straße 22, 81675 München, Germany.

Background: Most of the data about epidemiology, clinical presentation and treatment of autoimmune pancreatitis (AIP) is based on case series or small study groups. We therefore analyzed all cases of AIP treated at our clinic retrospectively.

Methods: We searched our clinical database for the diagnosis pancreatitis between January 2007 and June 2014, selected patients with AIP and entered all relevant information in a database for statistical analysis. Read More

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http://dx.doi.org/10.1016/j.pan.2015.11.006DOI Listing
December 2016
7 Reads

Inherited disorders of bilirubin clearance.

Pediatr Res 2016 Mar 23;79(3):378-86. Epub 2015 Nov 23.

Department of Pharmacology and Toxicology, Rutgers University, Piscataway, New Jersey.

Inherited disorders of hyperbilirubinemia may be caused by increased bilirubin production or decreased bilirubin clearance. Reduced hepatic bilirubin clearance can be due to defective (i) unconjugated bilirubin uptake and intrahepatic storage, (ii) conjugation of glucuronic acid to bilirubin (e.g. Read More

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http://dx.doi.org/10.1038/pr.2015.247DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4821713PMC
March 2016
9 Reads

Coronary Artery Disease in Patients With Disorders of Bilirubin Excretion.

Am J Ther 2017 Nov/Dec;24(6):e653-e658

1Department of Internal Medicine, Westchester Medical Center, New York Medical College, Valhalla, NY; 2Department of Medicine, Sinai Hospital of Baltimore, Johns Hopkins University, Baltimore, MD; 3Department of Medicine, Englewood Hospital and Medical Center, Mount Sinai School of Medicine, Englewood, NJ; 4Government Medical College, Amritsar, India; and 5Department of Medicine, Division of Gastroenterology and Hepatobiliary Disease, New York Medical College, Westchester Medical Center, Valhalla, NY.

We aimed to determine the predictors of coronary artery disease (CAD) in patients with abnormal bilirubin excretion, that is, Gilbert syndrome, Crigler-Najjar syndrome, Dubin-Johnson syndrome, and Rotor syndrome. We analyzed data from the Healthcare Cost and Utilization Project (HCUP) of the Agency for Healthcare Research and Quality, Rockville, MD for the period 2009 to 2010. All patients ≥18 years of age with a primary diagnosis of "disorders of bilirubin excretion" [International Classification of Diseases, Ninth Edition, Clinical Modification (ICD-9CM) code 277. Read More

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http://Insights.ovid.com/crossref?an=00045391-201711000-0000
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http://dx.doi.org/10.1097/MJT.0000000000000343DOI Listing
June 2018
21 Reads

Genetic and biochemical study of dual hereditary jaundice: Dubin-Johnson and Gilbert's syndromes. Haplotyping and founder effect of deletion in ABCC2.

Eur J Hum Genet 2016 May 9;24(5):704-9. Epub 2015 Sep 9.

Department of Pediatrics, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czech Republic.

Dual hereditary jaundice, a combination of Dubin-Johnson and Gilbert's syndromes, is a rare clinical entity resulting from the compound defects of bilirubin conjugation and transport. We aimed to study the hereditary jaundice in 56 members from seven seemingly unrelated Roma families, to find the causal genetic defect and to estimate its origin in Roma population. On the basis of biochemical results of total and conjugated serum bilirubin and clinical observations, ABCC2 gene, TATA box and phenobarbital enhancer (PBREM) of UGT1A1 gene were analyzed by sequencing, RFLP and fragment analysis. Read More

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http://dx.doi.org/10.1038/ejhg.2015.181DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4930088PMC
May 2016
19 Reads

Autoimmune Pancreatitis: A Diagnostic Challenge for the Clinician.

South Med J 2015 Sep;108(9):579-89

From the Departments of Medicine, Pathology, and Gastroenterology, Penn State College of Medicine/Penn State Hershey Medical Center, Hershey, Pennsylvania.

Autoimmune pancreatitis (AIP) is a rare cause of chronic pancreatitis that poses a diagnostic challenge to the clinician in that it mimics pancreatic cancer and presents with painless obstructive jaundice. In this review, we discuss the two types of AIP: type 1, known as lymphoplasmacytic sclerosing pancreatitis and type 2, known as idiopathic duct centric pancreatitis. Type 1 AIP is considered as a pancreatic manifestation of immunoglobulin G4-related disease. Read More

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http://dx.doi.org/10.14423/SMJ.0000000000000344DOI Listing
September 2015
1 Read

Treatment for tuberculosis in a patient with Dubin-Johnson syndrome.

BMJ Case Rep 2015 Aug 11;2015. Epub 2015 Aug 11.

Department of Internal Medicine, Maulana Azad Medical College, New Delhi, India.

Dubin-Johnson syndrome (DJS) is an autosomal recessive disorder characterised by conjugated hyperbilirubinemia resulting from mutations of ABCC2/MRP2 gene. The beneficial effects of ursodeoxycholic acid (UDCA) and rifampicin were found to be complementary in the treatment of cholestatic liver disease secondary to DJS. We present a case of a young woman with tubercular meningitis. Read More

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http://casereports.bmj.com/content/2015/bcr-2015-211123.full
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http://casereports.bmj.com/lookup/doi/10.1136/bcr-2015-21112
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http://dx.doi.org/10.1136/bcr-2015-211123DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4533671PMC
August 2015
9 Reads

Clinical profiles and outcomes in idiopathic duct-centric chronic pancreatitis (type 2 autoimmune pancreatitis): the Mayo Clinic experience.

Gut 2016 10 17;65(10):1702-9. Epub 2015 Jun 17.

Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, Minnesota, USA.

Objective: Idiopathic duct-centric chronic pancreatitis (IDCP), also known as type 2 autoimmune pancreatitis (AIP), is an uncommon subtype of AIP. International Consensus Diagnostic Criteria for IDCP propose that the diagnosis requires pancreatic histology and/or concurrent IBD. We examined our experience with IDCP (type 2 AIP) to assess the appropriateness of these criteria, and identify unique characteristics in patients presenting with acute pancreatitis. Read More

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http://dx.doi.org/10.1136/gutjnl-2015-309275DOI Listing
October 2016
9 Reads

[Autoimmune pancreatitis].

Gastroenterol Hepatol 2015 Nov 20;38(9):549-55. Epub 2015 Mar 20.

Servicio de Aparato Digestivo, Hospital Universitario Ramón y Cajal, Madrid, España.

Autoimmune pancreatitis is a benign fibroinflammatory disease of the pancreas of probable autoimmune origin, which includes 2 different phenotypes: type 1 (lymphoplasmacytic sclerosing pancreatitis) and type 2 (idiopathic duct-centric pancreatitis). Its clinical presentation as obstructive jaundice in patients with a pancreatic mass is common and therefore it must be included in the differential diagnosis of pancreatic neoplasia. Many diagnostic criteria have been described throughout history. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S02105705150002
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http://dx.doi.org/10.1016/j.gastrohep.2015.01.006DOI Listing
November 2015
7 Reads

Recent Advances in Autoimmune Pancreatitis.

Gastroenterology 2015 Jul 12;149(1):39-51. Epub 2015 Mar 12.

Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, Minnesota. Electronic address:

Autoimmune pancreatitis (AIP) is a form of chronic pancreatitis that is characterized clinically by frequent presentation with obstructive jaundice, histologically by a dense lymphoplasmacytic infiltrate with fibrosis, and therapeutically by a dramatic response to corticosteroid therapy. Two distinct diseases, type 1 and type 2 AIP, share these features. However, these 2 diseases have unique pancreatic histopathologic patterns and differ significantly in their demographic profiles, clinical presentation, and natural history. Read More

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http://dx.doi.org/10.1053/j.gastro.2015.03.010DOI Listing
July 2015
3 Reads

Autoimmune pancreatitis complicated with inflammatory bowel disease and comparative study of type 1 and type 2 autoimmune pancreatitis.

J Gastroenterol 2015 Jul 16;50(7):805-15. Epub 2014 Nov 16.

Center for Health, Safety, and Environmental Management, Shinshu University, 3-1-1 Asahi, Matsumoto, 390-8621, Japan,

Background: Two types of autoimmune pancreatitis (AIP) have been reported, lymphoplasmacytic sclerosing pancreatitis and idiopathic duct-centric chronic pancreatitis (IDCP), which are now recognized as type 1 and type 2 AIP, respectively. Since the clinical features of type 2 AIP have not been fully elucidated and this condition is frequently accompanied by inflammatory bowel disease (IBD), we performed a nationwide survey of patients with AIP complicated with IBD to precisely characterize this disease entity.

Methods: We collected 138 cases of pancreatitis with complicating IBD from affiliated institutes specializing in AIP or IBD, and comparative study between the IDCP groups and type 1 AIP was performed. Read More

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http://dx.doi.org/10.1007/s00535-014-1012-5DOI Listing
July 2015
7 Reads

New insights in the biology of ABC transporters ABCC2 and ABCC3: impact on drug disposition.

Expert Opin Drug Metab Toxicol 2015 Feb 7;11(2):273-93. Epub 2014 Nov 7.

University of Groningen, University Medical Center Groningen, Center for Liver, Digestive and Metabolic Diseases, Department of Pediatrics , Hanzeplein 1, 9713 GZ Groningen , The Netherlands

Introduction: For the elimination of environmental chemicals and metabolic waste products, the body is equipped with a range of broad specificity transporters that are present in excretory organs as well as in several epithelial blood-tissue barriers.

Areas Covered: ABCC2 and ABCC3 (also known as MRP2 and MRP3) mediate the transport of various conjugated organic anions, including many drugs, toxicants and endogenous compounds. This review focuses on the physiology of these transporters, their roles in drug disposition and how they affect drug sensitivity and toxicity. Read More

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http://dx.doi.org/10.1517/17425255.2015.981152DOI Listing
February 2015
4 Reads

Neonatal Dubin-Johnson syndrome: novel compound heterozygous mutation in the ABCC2 gene.

Pediatr Int 2014 Oct;56(5):e62-4

Department of Pediatrics, Faculty of Medicine, Kagawa University, Kagawa, Japan.

Dubin-Johnson syndrome (DJS) is an autosomal recessive inherited disorder characterized by conjugated hyperbilirubinemia. Neonatal-onset DJS is rare. It is caused by dysfunction of adenosine triphosphate-binding cassette, sub-family C, member 2 (ABCC2). Read More

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http://dx.doi.org/10.1111/ped.12404DOI Listing
October 2014
9 Reads

Gene replacement therapy for genetic hepatocellular jaundice.

Clin Rev Allergy Immunol 2015 Jun;48(2-3):243-53

Department of Gastroenterology and Hepatology, Tytgat Institute for Liver and Intestinal Research, Academic Medical Center, S1-172, University of Amsterdam, Meibergdreef 69, 1105BK, Amsterdam, The Netherlands,

Jaundice results from the systemic accumulation of bilirubin, the final product of the catabolism of haem. Inherited liver disorders of bilirubin metabolism and transport can result in reduced hepatic uptake, conjugation or biliary secretion of bilirubin. In patients with Rotor syndrome, bilirubin (re)uptake is impaired due to the deficiency of two basolateral/sinusoidal hepatocellular membrane proteins, organic anion-transporting polypeptide 1B1 (OATP1B1) and OATP1B3. Read More

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http://dx.doi.org/10.1007/s12016-014-8454-7DOI Listing
June 2015
33 Reads

[Autoimmune pancreatitis--treatment and pitfalls in diagnostics].

Internist (Berl) 2014 Oct;55(10):1231-41

Ambulanz für Pankreaserkrankungen, II. Medizinische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Ismaninger Straße 22, 81675, München, Deutschland,

Background: Autoimmune pancreatitis (AIP) was first classified as a defined disease entity in 1995. It accounts for approximately 2 % of cases of chronic pancreatitis (western world prevalence 36-41/100,000 inhabitants) and AIP is diagnosed in 2.4 % of pancreas resection specimens. Read More

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http://dx.doi.org/10.1007/s00108-014-3562-2DOI Listing
October 2014
1 Read

Autoimmune pancreatitis: a surgical dilemma.

Cir Esp 2014 Dec 24;92(10):645-53. Epub 2014 Jul 24.

Unidad de Cirugía Hepato-Bilio-Pancreática, Servicio de Cirugía General y Digestiva, Institut Clínic de Malalties Digestives i Metabòliques, Hospital Clínic de Barcelona, Barcelona, España.

Autoimmune pancreatitis (AIP) is defined as a particular form of pancreatitis that often manifests as obstructive jaundice associated with a pancreatic mass or an obstructive bile duct lesion, and that has an excellent response to corticosteroid treatment. The prevalence of AIP worldwide is unknown, and it is considered as a rare entity. The clinical and radiological presentation of AIP can mimic bilio-pancreatic cancer, presenting difficulties for diagnosis and obliging the surgeon to balance decision-making between the potential risk presented by the misdiagnosis of a deadly disease against the desire to avoid unnecessary major surgery for a disease that responds effectively to corticosteroid treatment. Read More

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http://dx.doi.org/10.1016/j.ciresp.2014.01.013DOI Listing
December 2014
6 Reads

Prevalence and impact of active and passive cigarette smoking in acute respiratory distress syndrome.

Crit Care Med 2014 Sep;42(9):2058-68

1Division of Critical Care Medicine, Department of Medicine, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY. 2Cardiovascular Research Institute, University of California, San Francisco, CA. 3Division of Clinical Pharmacology and Experimental Therapeutics, University of California, San Francisco, CA. 4Center for Tobacco Control Research and Education, University of California, San Francisco, CA. 5Division of Pulmonary and Critical Care Medicine, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA. 6Division of Nephrology, Department of Medicine, University of California, San Francisco, CA. 7Department of Anesthesia, University of California, San Francisco, CA. 8Division of Pulmonary and Critical Care, Department of Medicine, University of California, San Francisco, CA.

Objectives: Cigarette smoke exposure has recently been found to be associated with increased susceptibility to trauma- and transfusion-associated acute respiratory distress syndrome. We sought to determine 1) the incidence of cigarette smoke exposure in a diverse multicenter sample of acute respiratory distress syndrome patients and 2) whether cigarette smoke exposure is associated with severity of lung injury and mortality in acute respiratory distress syndrome.

Design: Analysis of the Albuterol for the Treatment of Acute Lung Injury and Omega Acute Respiratory Distress Syndrome Network studies. Read More

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/CCM.0000000000000418DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4134734PMC
September 2014
2 Reads

Hereditary hyperbilirubinemias.

Srp Arh Celok Lek 2014 Mar-Apr;142(3-4):257-60

Inherited disorders of bilirubin metabolism involve four autosomal recessive syndromes: Gilbert, CriglerNajjar, Dubin-Johnson and Rotor, among which the first two are characterized by unconjugated and the second two by conjugated hyperbilirubinemia. Gilbert syndrome occurs in 2%-10% of general population, while others are rare. Except for Crigler-Najjar syndrome, hereditary hyperbilirubinemias belong to benign disorders and thus no treatment is required. Read More

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October 2015
7 Reads

Inherited disorders of bilirubin transport and conjugation: new insights into molecular mechanisms and consequences.

Gastroenterology 2014 Jun 1;146(7):1625-38. Epub 2014 Apr 1.

Henri Mondor Hospital, Créteil, University of Paris-Est, Créteil, France.

Inherited disorders of bilirubin metabolism might reduce bilirubin uptake by hepatocytes, bilirubin conjugation, or secretion of bilirubin into bile. Reductions in uptake could increase levels of unconjugated or conjugated bilirubin (Rotor syndrome). Defects in bilirubin conjugation could increase levels of unconjugated bilirubin; the effects can be benign and frequent (Gilbert syndrome) or rare but severe, increasing the risk of bilirubin encephalopathy (Crigler-Najjar syndrome). Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00165085140044
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http://dx.doi.org/10.1053/j.gastro.2014.03.047DOI Listing
June 2014
10 Reads

The roles of MRP2, MRP3, OATP1B1, and OATP1B3 in conjugated hyperbilirubinemia.

Authors:
Dietrich Keppler

Drug Metab Dispos 2014 Apr 23;42(4):561-5. Epub 2014 Jan 23.

German Cancer Research Center (DKFZ), Heidelberg, Germany.

Increased concentrations of bilirubin glucuronides in blood plasma indicate hepatocellular dysfunction. Elucidation of the transport processes of bilirubin conjugates across the basolateral (sinusoidal) and the canalicular plasma membrane domains of hepatocytes has decisively contributed to our current understanding of the molecular basis of conjugated hyperbilirubinemia in human liver diseases. Under normal conditions, unconjugated bilirubin is taken up into hepatocytes by transporters of the organic anion-transporting polypeptide (OATP) family, followed by conjugation with glucuronic acid, and ATP-dependent transport into bile. Read More

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http://dx.doi.org/10.1124/dmd.113.055772DOI Listing
April 2014
10 Reads

Dubin-Johnson syndrome with multiple liver cavernous hemangiomas: report of a familial case.

Int J Clin Exp Pathol 2013 15;6(11):2636-9. Epub 2013 Oct 15.

Department of Pathology, General Hospital of Jinan Military Command Jinan, Shandong Province 250031, China.

Dubin-Johnson syndrome (DJS) is a rare autosomal recessive inheritance disorder of bilirubin metabolism. Herein we reported a complicated but interesting case which is readily resulted in misdiagnosis or an indefinite diagnosis, and this is the first reported familial case of DJS with multiple liver cavernous hemangiomas. A 49-year-old man was referred to our hospital for jaundice and multiple low-density liver masses. Read More

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http://www.ijcep.com/files/ijcep1308004.pdf
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3816840PMC
July 2014
20 Reads

[Autoimmune pancreatitis].

Dtsch Med Wochenschr 2013 Nov 5;138(46):2359-70; quiz 2371-4. Epub 2013 Nov 5.

Klinik für Innere Medizin A, Universitätsmedizin Greifswald, Ernst-Moritz-Arndt-Universität Greifswald.

Autoimmune pancreatitis is a relatively rare form of chronic pancreatitis which is characterized by a lymphoplasmatic infiltrate with a storiform fibrosis and often goes along with painless jaundice and discrete discomfort of the upper abdomen. Clinically we distinguish between two subtypes, which differ in terms of their histology, clinical picture and prognosis. Type 1 autoimmune pancreatitis is the pancreatic manifestation of the IgG4-associated syndrome which also involves other organs. Read More

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0033-1349475
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http://dx.doi.org/10.1055/s-0033-1349475DOI Listing
November 2013
6 Reads

New insights in bilirubin metabolism and their clinical implications.

World J Gastroenterol 2013 Oct;19(38):6398-407

Eva Sticova, Milan Jirsa, Centre for Experimental Medicine, Institute for Clinical and Experimental Medicine, 14021 Prague 4, Czech Republic.

Bilirubin, a major end product of heme breakdown, is an important constituent of bile, responsible for its characteristic colour. Over recent decades, our understanding of bilirubin metabolism has expanded along with the processes of elimination of other endogenous and exogenous anionic substrates, mediated by the action of multiple transport systems at the sinusoidal and canalicular membrane of hepatocytes. Several inherited disorders characterised by impaired bilirubin conjugation (Crigler-Najjar syndrome type I and type II, Gilbert syndrome) or transport (Dubin-Johnson and Rotor syndrome) result in various degrees of hyperbilirubinemia of either the predominantly unconjugated or predominantly conjugated type. Read More

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http://dx.doi.org/10.3748/wjg.v19.i38.6398DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3801310PMC
October 2013
8 Reads

[Neonatal hyperbilirubinemia and molecular mechanisms of jaundice].

Authors:
M Jirsa E Sticová

Vnitr Lek 2013 Jul;59(7):566-71

Centrum experimentální medicíny IKEM Praha.

The introductory summarises the classical path of heme degradation and classification of jaundice. Subsequently, a description of neonatal types of jaundice is given, known as Crigler Najjar, Gilberts, DubinJohnson and Rotor syndromes, emphasising the explanation of the molecular mechanisms of these metabolic disorders. Special attention is given to a recently discovered molecular mechanism of the Rotor syndrome. Read More

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July 2013
1 Read

A national survey of patients with intestinal motility disorders who are potential candidates for intestinal transplantation in Japan.

Transplant Proc 2013 Jun;45(5):2029-31

Pediatric Surgery, Osaka University, Suita, Japan.

Intestinal motility disorders are a major cause of intestinal failure. Severe cases such as idiopathic pseudo-obstruction represent life-threatening illnessed. Intestinal transplantation is a treatment for severe motility disorders with irreversible intestinal failure. Read More

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http://dx.doi.org/10.1016/j.transproceed.2013.01.092DOI Listing
June 2013
1 Read