912 results match your criteria Dubin-Johnson Syndrome


Idiopathic Adulthood Ductopenia Causing Cirrhosis.

ACG Case Rep J 2020 Mar 17;7(3):e00349. Epub 2020 Mar 17.

Department of Pathology, Medical University of South Carolina, Charleston, SC.

Idiopathic adulthood ductopenia (IAD) is a chronic small duct cholestatic biliary disease that is characterized by the loss of interlobular bile ducts. It is diagnosed when there is biochemical evidence of cholestatic liver disease, ductopenia on liver biopsy, and no other identifiable cause of cholestasis. We present a patient with 10 days of progressive abdominal pain, jaundice, and worsening liver function tests who advanced to fulminant liver failure with no apparent underlying cause. Read More

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http://dx.doi.org/10.14309/crj.0000000000000349DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7162123PMC

A recurrent ABCC2 p.G693R mutation resulting in loss of function of MRP2 and hyperbilirubinemia in Dubin-Johnson syndrome in China.

Orphanet J Rare Dis 2020 Mar 18;15(1):74. Epub 2020 Mar 18.

Liver Research Center, Experimental Center, Beijing Friendship Hospital, Capital Medical University, 95 Yong-An Road, Beijing, 100050, China.

Background: Dubin-Johnson syndrome (DJS) is a rare autosomal recessive disorder characterized by predominantly conjugated hyperbilirubinemia that is caused by pathogenic mutations in the adenosine triphosphate-binding cassette subfamily C member 2 (ABCC2) gene, which encodes multidrug resistance-associated protein 2 (MRP2). However, little is known about the causative mutation of DJS in China. Recently, we have reported ABCC2 p. Read More

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http://dx.doi.org/10.1186/s13023-020-1346-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7079413PMC

Dubin-Johnson Syndrome Presenting During Cardiac Transplantation Evaluation.

Cureus 2020 Jan 8;12(1):e6594. Epub 2020 Jan 8.

Internal Medicine: Gastroenterology, Tufts Medical Center, Boston, USA.

Dubin-Johnson syndrome is a rare, benign disorder that results in conjugated hyperbilirubinemia. The disease manifests as intermittent jaundice without long-term hepatic or other clinical complications. This article reports a case of Dubin-Johnson syndrome, which was identified during cardiac transplant evaluation for cardiomyopathy secondary to a polyglycogen storage disease. Read More

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http://dx.doi.org/10.7759/cureus.6594DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7003716PMC
January 2020

Laparoscopic cholecystectomy for cholecystolithiasis with Dubin-Johnson syndrome.

JGH Open 2019 Dec 22;3(6):532-533. Epub 2019 Jul 22.

Centre of General Surgery, Hospital of People's Liberation Army Urumqi City Xinjiang China.

Dubin-Johnson syndrome is a rare, autosomal recessive hereditary disease, commonly known as "black liver disease." It is of great interest for surgeons to accidentally find the "black liver" during laparoscopic cholecystectomy (LC). We performed an emergency LC for cholecystolithiasis with Dubin-Johnson syndrome in 2013. Read More

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http://dx.doi.org/10.1002/jgh3.12204DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6891015PMC
December 2019

Next generation sequencing reveals co-existence of hereditary spherocytosis and Dubin-Johnson syndrome in a Chinese gril: A case report.

World J Clin Cases 2019 Oct;7(20):3303-3309

Anemia Therapeutic Center, Institute of Hematology and Blood Diseases Hospital, CAMS and PUMC, Tianjin 300020, China.

Background: Hereditary spherocytosis (HS) is a hereditary disease of hemolytic anemia that occurs due to the erythrocyte membrane defects. Dubin-Johnson syndrome (DJS), which commonly results in jaundice, is a benign hereditary disorder of bilirubin clearance that occurs only rarely. The co-occurrence of HS and DJS is extremely rare. Read More

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http://dx.doi.org/10.12998/wjcc.v7.i20.3303DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6819282PMC
October 2019

Genetic contribution of ABCC2 to Dubin-Johnson syndrome and inherited cholestatic disorders.

Liver Int 2020 01 13;40(1):163-174. Epub 2019 Oct 13.

INSERM, Centre de Recherche Saint-Antoine (CRSA), Institut Hospitalo-Universitaire de Cardio-métabolisme et Nutrition (ICAN), Sorbonne Université, Paris, France.

Background And Aims: The ABCC2 gene is implicated in Dubin-Johnson syndrome (DJS), a rare autosomal recessive liver disorder. The primary aim of this study was to determine the diagnostic value of ABCC2 genetic testing in the largest cohort of DJS reported to date. The high number of patients with cholestatic manifestations in this series prompted us to evaluate the genetic contribution of rare, potentially pathogenic ABCC2 variants to other inherited cholestatic disorders. Read More

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http://dx.doi.org/10.1111/liv.14260DOI Listing
January 2020
3 Reads

Prevalence of Cerebrotendinous Xanthomatosis Among Patients Diagnosed With Acquired Juvenile-Onset Idiopathic Bilateral Cataracts.

JAMA Ophthalmol 2019 Sep 19. Epub 2019 Sep 19.

Formerly at Retrophin, Inc, San Diego, California.

Importance: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive bile acid synthesis disorder caused by mutations in CYP27A1, the gene encoding sterol 27-hydroxylase, which results in elevated levels of plasma cholestanol and urinary bile alcohols. Clinical symptoms and signs may include early-onset chronic diarrhea, juvenile-onset bilateral cataracts, cholestatic jaundice, tendon xanthomas, and progressive neurological deterioration. Although initiation of treatment at a young age can prevent disease complications, diagnosis often occurs after the onset of permanent neurologic damage. Read More

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http://dx.doi.org/10.1001/jamaophthalmol.2019.3639DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6753501PMC
September 2019
3 Reads

Adult Coats' Disease, Dubin-Johnson Syndrome, and the Search for Targeted Therapies.

Ophthalmic Surg Lasers Imaging Retina 2019 05;50(5):318-321

Coats' disease is nonhereditary retinal vascular disorder characterized by telangiectatic retinal vessels with prominent aneurysmal changes and exudation. A conclusive etiology has not yet been determined. In this retrospective case report and literature review, a 64-year-old male with Dubin-Johnson syndrome presented with unilateral retinal vascular changes and exudation consistent with a diagnosis of adult Coats' disease. Read More

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http://dx.doi.org/10.3928/23258160-20190503-10DOI Listing
May 2019
7 Reads

A Case of Dubin-Johnson Syndrome in Pregnancy.

Cureus 2019 Feb 11;11(2):e4048. Epub 2019 Feb 11.

Obstetrics & Gynecology, Maulana Azad Medical College, New Delhi, IND.

Dubin-Johnson syndrome is an autosomal recessive condition characterized by recurrent episodes of jaundice and conjugated hyperbilirubinemia. It exacerbates during pregnancy and needs to be differentiated from other causes of jaundice. A 30-year-old patient presented to us with jaundice in her fourth pregnancy. Read More

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http://dx.doi.org/10.7759/cureus.4048DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6464460PMC
February 2019
7 Reads

[Diagnosis of a patient with Dubin-Johnson syndrome by using next generation sequencing].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2019 Mar;36(3):242-245

Ji'nan Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Ji'nan, Shandong 250022, China.

Objective: To explore the clinical characteristics and molecular basis for a Chinese boy affected with jaundiced skin and liver disease.

Methods: The patient was subjected to clinical examination and laboratory tests. Genomic DNA of the patient and his parents was extracted and analyzed by using next generation sequencing (NGS). Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2019.03.012DOI Listing
March 2019
10 Reads

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

Dig Dis Sci 2019 03 6;64(3):632-642. 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
March 2019
8 Reads

[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
8 Reads

[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
6 Reads

A Rare Cause of Neonatal Cholestasis Without Liver Dysfunction.

Gastroenterology 2019 06 18;156(8):e9-e11. Epub 2019 Jan 18.

Department of Gastroenterology and Hepatology, The Children's Hospital at Westmead.

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http://dx.doi.org/10.1053/j.gastro.2019.01.031DOI Listing
June 2019
4 Reads

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

Presse Med 2019 Jan 10;48(1 Pt 1):81-82. 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
January 2019
8 Reads

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
17 Reads
0.940 Impact Factor

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

Clin Genet 2018 11 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
9 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
21 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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May 2019
46 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
16 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
10 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
31 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
22 Reads

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

BMC Res Notes 2017 10 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
19 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
32 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
11 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
April 2018
6 Reads

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
4 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
7 Reads

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
27 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
17 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
6 Reads

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
11 Reads

[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
12 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
63 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
41 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
18 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
41 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
33 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
23 Reads

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
27 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
40 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
17 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
22 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
34 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
30 Reads