498 results match your criteria 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
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.
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
J Pediatr 2018 May 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
J Gastroenterol Hepatol 2018 Mar;33(3):562
Department of Pathology, Chonnam National University Medical School, Gwangju, Korea.
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
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
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 , the authors requested the following corrections: 1. Author 2-given name should be Dilanthi and family name Warawitage. 2. Read More
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
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
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
Eur J Hum Genet 2016 10;24(10):1515
Int J Surg Pathol 2017 Apr 24;25(2):162. Epub 2016 Sep 24.
1 Department of Pathology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
N Engl J Med 2016 Jul;375(1):e1
Japanese Red Cross Society Himeji Hospital, Himeji, Japan
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
Hepatobiliary Pancreat Dis Int 2015 Dec;14(6):660-4
Institute of Liver Studies, King's College Hospital, Denmark Hill, SE5 9RS, London, UK.
According to the most recent WHO classification of hepatocellular adenomas, a small percentage of inflammatory hepatocellular adenomas presents with mutation in the beta-catenin gene and are at higher risk of malignant transformation. It has been recognized that adenoma-like hepatocellular neoplasms with focal atypia, or in unusual clinical context present with similar cytogenetic and immunohistochemistry characteristics to well-differentiated hepatocellular carcinomas. We report a case of a well-differentiated hepatocellular neoplasm with Dubin-Johnson-like pigment displaying histological features overlapping with a beta-catenin mutated inflammatory adenoma and a well-differentiated hepatocellular carcinoma in a non-cirrhotic liver. Read More
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
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
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
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
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
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
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
Clin Exp Gastroenterol 2014 2;7:307-28. Epub 2014 Sep 2.
Research Service, Veterans Affairs Medical Center, Minneapolis, MN, USA.
Serum bilirubin measurements are commonly obtained for the evaluation of ill patients and to screen for liver disease in routine physical exams. An enormous research effort has identified the multiple mechanisms involved in the production and metabolism of conjugated (CB) and unconjugated bilirubin (UB). While the qualitative effects of these mechanisms are well understood, their expected quantitative influence on serum bilirubin homeostasis has received less attention. Read More
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
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
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
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
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
Int J Surg Case Rep 2013 17;4(7):587-8. Epub 2013 Apr 17.
Department of Hepatobiliary Surgery, the First Affiliated Hospital, School of Medicine, Xi'an Jiao Tong University, Xi'an 710061, China.
Introduction: Dubin-Johnson syndrome (DJS) is unusual during common medical work. Moreover, cholecystolithiasis and choledocholithiasis involvement has not been reported.
Presentation Of Case: We describe a case of DJS complicated by cholecystolithiasis and choledocholithiasis. Read More
Indian J Pathol Microbiol 2012 Oct-Dec;55(4):528-30
Department of Pathology, Global Hospital and Health City, Chennai, Tamil Nadu, India.
WHO defines hepatocellular adenoma (HCA) as a benign tumor composed of cells closely resembling normal hepatocytes, which are arranged in plates separated by sinusoids. It is more common in women. The present concerns a 41 years female who was found to have a mass lesion in liver on ultrasound while undergoing routine evaluation for dyspepsia. Read More
World J Gastroenterol 2013 Feb;19(6):946-50
Center for Experimental Medicine, Institute for Clinical and Experimental Medicine, 14021 Prague 4, Czech Republic.
Hyperbilirubinemia has been presumed to prevent the process of atherogenesis and cancerogenesis mainly by decreasing oxidative stress. Dubin-Johnson syndrome is a rare, autosomal recessive, inherited disorder characterized by biphasic, predominantly conjugated hyperbilirubinemia with no progression to end-stage liver disease. The molecular basis in Dubin-Johnson syndrome is absence or deficiency of human canalicular multispecific organic anion transporter MRP2/cMOAT caused by homozygous or compound heterozygous mutation(s) in ABCC2 located on chromosome 10q24. Read More
Clin J Gastroenterol 2013 Feb 6;6(1):69-74. Epub 2012 Dec 6.
National Hospital Iwakuni Clinical Center, Department of Surgery, 2-5-1 Kuroiso-machi, Iwakuni-shi, Yamaguchi, 740-8510, Japan.
A 77-year-old male patient with history of jaundice was referred to our hospital for treatment of hepatocellular carcinoma (HCC). He was found to have Dubin-Johnson syndrome (DJS), a clinical feature of constitutional jaundice with conjugated hyperbilirubinemia, and indocyanine green (ICG) excretory defect, both of which are rare conditions. Total bilirubin was 5. Read More
Ann Clin Biochem 2012 Nov 12;49(Pt 6):609-12. Epub 2012 Oct 12.
Department of Biochemistry, Wishaw General Hospital, 50 Netherton Street, Wishaw, Lanarkshire ML2 0DP, UK.
A patient with sepsis and jaundice was admitted for diagnosis and treatment. Associated biochemical changes included increased C-reactive protein, conjugated bilirubin and gamma-glutamyltransferase, the duration of which was protracted. High urine coproporphyrin isomer-1 and immunostaining of liver tissue suggested Dubin-Johnson syndrome. Read More
Hepatol Res 2013 May 10;43(5):569-75. Epub 2012 Oct 10.
Department of Clinical Chemistry and Laboratory Medicine, Graduate School of Medical Sciences, Kyushu University, Fukuoka.
Dubin-Johnson syndrome (DJS) is a recessive inherited disorder characterized by conjugated hyperbilirubinemia. It is caused by dysfunction of adenosine triphosphate-binding cassette, sub-family C, member 2 (ABCC2/MRP2) on the canalicular membrane of hepatocytes. We performed mutational analysis of the ABCC2/MRP2 gene in a Japanese female with DJS. Read More
Korean J Gastroenterol 2012 Apr;59(4):313-6
Department of Internal Medicine, Yonsei University Wonju College of Medicine, Wonju, Korea.
Dubin-Johnson syndrome is a rare clinical entity. It shows intermittent symptoms such as chronic or intermittent jaundice, abdominal pain, weakness, nausea, vomiting, anorexia and diarrhea. Symptoms are precipitated or aggravated by pregnancy, alcoholism, surgical procedures and intercurrent disease. Read More
Turk J Gastroenterol 2011 Aug;22(4):422-5
Kocaeli University Medical Faculty, Department of Gastroenterology, Kocaeli, Turkey.
Dubin-Johnson syndrome is a chronic, benign, intermittent jaundice, mostly of conjugated hyperbilirubinemia. The level of bilirubin is not expected to be more than 20 mg/dl in this syndrome. In this article, we report a patient who was evaluated for hyperbilirubinemia and liver function test abnormalities and diagnosed with Dubin-Johnson syndrome coexisting with hereditary spherocytosis. Read More
FEBS J 2011 Sep 1;278(18):3226-45. Epub 2011 Aug 1.
Department of Pharmaceutical Sciences, College of Pharmacy and Allied Health Professions, St. John's University, Queens, NY 11439, USA.
The ATP-binding cassette (ABC) transporters are a superfamily of membrane proteins that are best known for their ability to transport a wide variety of exogenous and endogenous substances across membranes against a concentration gradient via ATP hydrolysis. There are seven subfamilies of human ABC transporters, one of the largest being the 'C' subfamily (gene symbol ABCC). Nine ABCC subfamily members, the so-called multidrug resistance proteins (MRPs) 1-9, have been implicated in mediating multidrug resistance in tumor cells to varying degrees as the efflux extrude chemotherapeutic compounds (or their metabolites) from malignant cells. Read More
Gastroenterol Hepatol Bed Bench 2011 ;4(3):164-6
Research Institute for Gastroenterology and Liver Disease, Shahid Beheshti University of Medical sciences Tehran, Iran.
Elevated serum level of bilirubin is a common manifestation which is occurred in several diseases. Hyperbilirubinemia can manifest either conjugated or unconjugated. Conjugated or direct hyperbilirubinemia usually are caused by hepatocellular diseases or cholestatic liver diseases. Read More
Surg Today 2011 Jun 28;41(6):881-3. Epub 2011 May 28.
Department of Gastroenterological Surgery, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto, 860-8556, Japan.
Hepatocellular adenoma is a rare, benign neoplasm that is related to the use of contraceptives or androgenic-anabolic steroids. A 51-year-old man with no history of steroid use was found to have a liver tumor. Plain computed tomography showed a high-density tumor that was enhanced in the arterial phase, and the enhancement was prolonged in the delayed phase. Read More
Zhonghua Gan Zang Bing Za Zhi 2011 Mar;19(3):210-3
Center of Liver Diseases, First Hospital, Xinjiang Medical University, Urumqi, China.
Objective: To explore characteristics of the myelin-like bodies in the hepatocytes of patients with Dubin-Johnson syndrome (DJS) complicated with chronic hepatitis B (CHB).
Methods: 11 cases of DJS complicated with CHB and 5 cases DJS without CHB were studied clinicopathologically. The hepatocyte ultrastructure was observed with transmission electron microscope and taken photos. Read More
Am J Surg Pathol 2011 Jun;35(6):927-32
Department of Pathology, Mount Sinai School of Medicine, One Gustave L. Levy Place, New York, NY 10029, USA.
Telangiectatic hepatocellular adenoma is a rare, recently recognized subtype of hepatocellular adenoma that is often underrecognized by pathologists. We report a case of hepatocellular carcinoma arising within a pigmented telangiectatic hepatocellular adenoma in a noncirrhotic man with diffuse glutamine synthetase and nuclear β-catenin positivity. This case highlights malignant transformation of telangiectatic adenomas, and describes a previously unreported association between pigment deposition and telangiectatic adenoma. Read More
J Biomed Biotechnol 2011 14;2011:498757. Epub 2011 Mar 14.
CHRU de Tours, Laboratoire de Biochimie et Biologie Moléculaire, Tours, France.
MRP2 encoded by ABCC2 gene is involved in the secretion of numerous drugs and endogenous substrates. Patients with Dubin-Johnson syndrome due to mutation in ABCC2 gene have elevated urinary coproporphyrin ratio (UCP I/(I + III)). Here we investigated whether this ratio could serve as a biomarker of MRP2 function. Read More
Handb Exp Pharmacol 2011 (201):299-323
German Cancer Research Center, Heidelberg, Germany.
The nine multidrug resistance proteins (MRPs) represent the major part of the 12 members of the MRP/CFTR subfamily belonging to the 48 human ATP-binding cassette (ABC) transporters. Cloning, functional characterization, and cellular localization of most MRP subfamily members have identified them as ATP-dependent efflux pumps with a broad substrate specificity for the transport of endogenous and xenobiotic anionic substances localized in cellular plasma membranes. Prototypic substrates include glutathione conjugates such as leukotriene C(4) for MRP1, MRP2, and MRP4, bilirubin glucuronosides for MRP2 and MRP3, and cyclic AMP and cyclic GMP for MRP4, MRP5, and MRP8. Read More
Clin Genet 2010 Dec;78(6):598-600
Best Pract Res Clin Gastroenterol 2010 Oct;24(5):555-71
Department of Gastroenterology, Hepatology and Endocrinology, Hannover Medical School, Carl-Neuberg-Str. 1, 30625 Hannover, Germany.
Hyperbilirubinemia is an important clinical sign that often indicates severe hepatobiliary disease of different etiologies. Inherited non-haemolytichyperbilirubinemic conditions include Dubin-Johnson, Rotor, and Gilbert-Meulengracht syndromes, which are important differential diagnoses indicating benign disease that require no immediate treatment. Dubin-Johnson and Rotor syndromes are rare, exhibit mixed direct and indirect hyperbilirubinemia as well as typical profiles or urinary coproporphyrin excretion. Read More
Pediatr Transplant 2012 Feb 1;16(1):E25-9. Epub 2010 Sep 1.
Division of Pediatric Surgery, Taipei Veterans General Hospital, Taiwan.
DJS is an autosomal recessive disorder that causes an increase in conjugated bilirubin without elevation of liver enzymes. Most patients are asymptomatic and have normal life spans, but to the best of our knowledge, their livers have never been reported to be grafts in liver transplantation. Herein, we report an infant patient with MMA that received a partial liver graft from his mother, who had DJS. Read More
J Pediatr 2010 Jul 15;157(1):167. Epub 2010 Mar 15.
Division of Pediatric Gastroenterology, University of Mississippi Medical Center, Jackson, Mississippi, USA.
Drug Metab Rev 2010 Aug;42(3):402-36
Chemical Research Center, Institute of Biomolecular Chemistry, HAS, Budapest, Hungary.
ABCC2/Abcc2 (MRP2/Mrp2) is expressed at major physiological barriers, such as the canalicular membrane of liver cells, kidney proximal tubule epithelial cells, enterocytes of the small and large intestine, and syncytiotrophoblast of the placenta. ABCC2/Abcc2 always localizes in the apical membranes. Although ABCC2/Abcc2 transports a variety of amphiphilic anions that belong to different classes of molecules, such as endogenous compounds (e. Read More
Drug Metab Pharmacokinet 2009 ;24(5):464-8
Department of Gastroenterology and Hepatology, Saiseikai Maebashi Hospital, Gunma, Japan.
The Dubin-Johnson syndrome (DJS) is an inherited liver disorder characterized by conjugated hyperbilirubinemia and caused by ABCC2 gene mutations resulting in deficiency of multidrug resistance associated-protein 2 (MRP2) function. A 76-year-old woman with serious jaundice was referred to our hospital. She was clinically diagnosed with DJS with hepatic congestion, due to constrictive pericarditis. Read More