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[PMID]:27406372
[Au] Autor:Morii K; Yamamoto T
[Ad] Endereço:Japanese Red Cross Society Himeji Hospital, Himeji, Japan moriikazuhiko@gmail.com.
[Ti] Título:IMAGES IN CLINICAL MEDICINE. Dubin-Johnson Syndrome.
[So] Source:N Engl J Med;375(1):e1, 2016 Jul 07.
[Is] ISSN:1533-4406
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Icterícia Idiopática Crônica/patologia
Fígado/patologia
Proteínas Associadas à Resistência a Múltiplos Medicamentos/metabolismo
[Mh] Termos MeSH secundário: Feminino
Seres Humanos
Icterícia Idiopática Crônica/sangue
Meia-Idade
Proteínas Associadas à Resistência a Múltiplos Medicamentos/genética
Mutação
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Multidrug Resistance-Associated Proteins); 4AF605U6JN (multidrug resistance-associated protein 2)
[Em] Mês de entrada:1607
[Cu] Atualização por classe:161126
[Lr] Data última revisão:
161126
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:160714
[St] Status:MEDLINE
[do] DOI:10.1056/NEJMicm1509529


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[PMID]:26858187
[Au] Autor:Togawa T; Sugiura T; Ito K; Endo T; Aoyama K; Ohashi K; Negishi Y; Kudo T; Ito R; Kikuchi A; Arai-Ichinoi N; Kure S; Saitoh S
[Ad] Endereço:Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
[Ti] Título:Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing.
[So] Source:J Pediatr;171:171-7.e1-4, 2016 Apr.
[Is] ISSN:1097-6833
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo: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. We then compared clinical data between the molecular genetically confirmed subjects with NIIC. RESULTS: We analyzed 109 patients with NIIC ("genetic cholestasis," 31 subjects; "unknown with complications" such as prematurity, 46 subjects; "unknown without complications," 32 subjects), and a molecular genetic diagnosis was made for 28 subjects (26%). The rate of positive molecular genetic diagnosis in each category was 22 of 31 (71%) for the "genetic cholestasis" group, 2 of 46 (4.3%) for the "unknown with complications" group, and 4 of 32 (12.5%) for the "unknown without complications" group. The grouping of the molecular diagnoses in the group with genetic cholestasis was as follows: 12 with Alagille syndrome, 5 with neonatal Dubin-Johnson syndrome, 5 with neonatal intrahepatic cholestasis caused by citrin deficiency, and 6 with progressive familial intrahepatic cholestasis or benign recurrent intrahepatic cholestasis with low gamma-glutamyl transpeptidase levels. Several clinical datasets, including age of onset, direct bilirubin, and aminotransferases, were significantly different between the disorders confirmed using molecular genetic diagnosis. CONCLUSION: Targeted NGS can be used for molecular genetic diagnosis in subjects with NIIC. Clinical diagnosis should be accordingly redefined in the view of molecular genetic findings.
[Mh] Termos MeSH primário: Colestase Intra-Hepática/diagnóstico
Colestase Intra-Hepática/genética
Sequenciamento de Nucleotídeos em Larga Escala
[Mh] Termos MeSH secundário: Síndrome de Alagille/diagnóstico
Síndrome de Alagille/genética
Bilirrubina/sangue
Proteínas de Ligação ao Cálcio/deficiência
Aberrações Cromossômicas
Éxons
Feminino
Deleção de Genes
Estudos de Associação Genética
Genômica
Seres Humanos
Lactente
Recém-Nascido
Japão
Icterícia Idiopática Crônica/diagnóstico
Icterícia Idiopática Crônica/genética
Masculino
Biologia Molecular
Transportadores de Ânions Orgânicos/deficiência
gama-Glutamiltransferase/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Calcium-Binding Proteins); 0 (Organic Anion Transporters); 1340-08-5 (citrin); EC 2.3.2.2 (gamma-Glutamyltransferase); RFM9X3LJ49 (Bilirubin)
[Em] Mês de entrada:1608
[Cu] Atualização por classe:160328
[Lr] Data última revisão:
160328
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:160210
[St] Status:MEDLINE


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[PMID]:26595536
[Au] Autor:Memon N; Weinberger BI; Hegyi T; Aleksunes LM
[Ad] Endereço:Department of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, New Jersey.
[Ti] Título:Inherited disorders of bilirubin clearance.
[So] Source:Pediatr Res;79(3):378-86, 2016 Mar.
[Is] ISSN:1530-0447
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo: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., Gilbert syndrome, Crigler-Najjar syndrome, Lucey-Driscoll syndrome, breast milk jaundice), (iii) bilirubin excretion into bile (Dubin-Johnson syndrome), or (iv) conjugated bilirubin re-uptake (Rotor syndrome). In this review, the molecular mechanisms and clinical manifestations of these conditions are described, as well as current approaches to diagnosis and therapy.
[Mh] Termos MeSH primário: Bilirrubina/sangue
Hiperbilirrubinemia Hereditária/genética
Hiperbilirrubinemia Neonatal/genética
[Mh] Termos MeSH secundário: Animais
Bile/química
Bilirrubina/química
Bilirrubina/metabolismo
Síndrome de Crigler-Najjar/genética
Doença de Gilbert/genética
Ácido Glucurônico/química
Glucuronosiltransferase/genética
Seres Humanos
Hiperbilirrubinemia Hereditária/diagnóstico
Hiperbilirrubinemia Neonatal/diagnóstico
Icterícia Idiopática Crônica/genética
Fígado/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; REVIEW
[Nm] Nome de substância:
8A5D83Q4RW (Glucuronic Acid); EC 2.4.1.- (UGT1A1 enzyme); EC 2.4.1.17 (Glucuronosyltransferase); RFM9X3LJ49 (Bilirubin)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170317
[Lr] Data última revisão:
170317
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151124
[St] Status:MEDLINE
[do] DOI:10.1038/pr.2015.247


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[PMID]:26350512
[Au] Autor:Slachtova L; Seda O; Behunova J; Mistrik M; Martasek P
[Ad] Endereço:Department of Pediatrics, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czech Republic.
[Ti] Título:Genetic and biochemical study of dual hereditary jaundice: Dubin-Johnson and Gilbert's syndromes. Haplotyping and founder effect of deletion in ABCC2.
[So] Source:Eur J Hum Genet;24(5):704-9, 2016 May.
[Is] ISSN:1476-5438
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo: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. We found a novel variant c.1013_1014delTG in the eighth exon of ABCC2 gene in 17 individuals in homozygous state. Dual defect NG_011798.1:c.[1013_1014delTG]; NG_002601.2:g.[175492_175493insTA] in homozygous state was found in four subjects. Biochemical analyses of porphyrins and coproporphyrin isomers in urine performed by HPLC showed inverted ratio of excreted coproporphyrin, with the predominance of coproporphyrin I (up to 100%), typical for patients with Dubin-Johnson syndrome. Pursuant cultural and social specifics of the population led us to suspect a founder effect; therefore, we performed a haplotype study using genotyping data from Affymetrix Genome-Wide Human SNP Array 6.0. As a result, we detected a common 86 kbp haplotype encompassing promoter and part of the ABCC2 coding region among all families, and estimated the age of the ancestral variant to 178-185 years. In this study, we found a novel deletion in ABCC2 gene, described genetic and biochemical features of dual hereditary jaundice and confirmed the existence of founder effect and common haplotype among seven Roma families.
[Mh] Termos MeSH primário: Efeito Fundador
Deleção de Genes
Doença de Gilbert/genética
Icterícia Idiopática Crônica/genética
Proteínas Associadas à Resistência a Múltiplos Medicamentos/genética
[Mh] Termos MeSH secundário: Bilirrubina/metabolismo
Coproporfirinas/urina
Feminino
Doença de Gilbert/diagnóstico
Glucuronosiltransferase/genética
Haplótipos
Homozigoto
Seres Humanos
Icterícia Idiopática Crônica/diagnóstico
Masculino
Polimorfismo de Fragmento de Restrição
Polimorfismo de Nucleotídeo Único
TATA Box
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Coproporphyrins); 0 (Multidrug Resistance-Associated Proteins); 4AF605U6JN (multidrug resistance-associated protein 2); EC 2.4.1.- (UGT1A1 enzyme); EC 2.4.1.17 (Glucuronosyltransferase); RFM9X3LJ49 (Bilirubin)
[Em] Mês de entrada:1612
[Cu] Atualização por classe:170501
[Lr] Data última revisão:
170501
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150910
[St] Status:MEDLINE
[do] DOI:10.1038/ejhg.2015.181


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[PMID]:26264947
[Au] Autor:Alpana M; Daga MK; Aggarwal S; Nidhi A
[Ad] Endereço:Department of Internal Medicine, Maulana Azad Medical College, New Delhi, India.
[Ti] Título:Treatment for tuberculosis in a patient with Dubin-Johnson syndrome.
[So] Source:BMJ Case Rep;2015, 2015 Aug 11.
[Is] ISSN:1757-790X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo: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. She was started on modified antitubercular therapy in view of conjugated hyperbilirubinemia. However, reinitiation of rifampicin resulted in redevelopment of jaundice. Liver biopsy was suggestive of DJS. The patient was started on rifampicin along with UDCA. There was improvement in hyperbilirubinemia and a full course of antituberculous therapy without further worsening of the disorder was possible. This is a rare case of DJS with tuberculosis, showing beneficial effects of rifampicin and UDCA combination therapy, which so far has been considered doubtful. It is uncertain what the level of efficacy of therapy is in various MRP2 gene mutations.
[Mh] Termos MeSH primário: Antituberculosos/uso terapêutico
Icterícia Idiopática Crônica/complicações
Icterícia Idiopática Crônica/tratamento farmacológico
Tuberculose Meníngea/complicações
Tuberculose Meníngea/tratamento farmacológico
[Mh] Termos MeSH secundário: Adulto
Colagogos e Coleréticos/uso terapêutico
Quimioterapia Combinada
Feminino
Seres Humanos
Isoniazida/uso terapêutico
Rifampina/uso terapêutico
Ácido Ursodesoxicólico/uso terapêutico
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antitubercular Agents); 0 (Cholagogues and Choleretics); 724L30Y2QR (Ursodeoxycholic Acid); V83O1VOZ8L (Isoniazid); VJT6J7R4TR (Rifampin)
[Em] Mês de entrada:1607
[Cu] Atualização por classe:170811
[Lr] Data última revisão:
170811
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150813
[St] Status:MEDLINE


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[PMID]:25315738
[Au] Autor:van Dijk R; Beuers U; Bosma PJ
[Ad] Endereço: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, r.vandijk@amc.uva.nl.
[Ti] Título:Gene replacement therapy for genetic hepatocellular jaundice.
[So] Source:Clin Rev Allergy Immunol;48(2-3):243-53, 2015 Jun.
[Is] ISSN:1559-0267
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo: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. Dubin-Johnson syndrome is caused by a defect in the ATP-dependent canalicular transporter, multidrug resistance-associated protein 2 (MRP2), which mediates the export of conjugated bilirubin into bile. Both disorders are benign and not progressive and are characterised by elevated serum levels of mainly conjugated bilirubin. Uridine diphospho-glucuronosyl transferase 1A1 (UGT1A1) is responsible for the glucuronidation of bilirubin; deficiency of this enzyme results in unconjugated hyperbilirubinaemia. Gilbert syndrome is the mild and benign form of inherited unconjugated hyperbilirubinaemia and is mostly caused by reduced promoter activity of the UGT1A1 gene. Crigler-Najjar syndrome is the severe inherited form of unconjugated hyperbilirubinaemia due to mutations in the UGT1A1 gene, which can cause kernicterus early in life and can be even lethal when left untreated. Due to major disadvantages of the current standard treatments for Crigler-Najjar syndrome, phototherapy and liver transplantation, new effective therapeutic strategies are under development. Here, we review the clinical features, pathophysiology and genetic background of these inherited disorders of bilirubin metabolism and transport. We also discuss the upcoming treatment option of viral gene therapy for genetic disorders such as Crigler-Najjar syndrome and the possible immunological consequences of this therapy.
[Mh] Termos MeSH primário: Terapia Genética
Icterícia/genética
Icterícia/terapia
[Mh] Termos MeSH secundário: Animais
Síndrome de Crigler-Najjar
Técnicas de Transferência de Genes
Vetores Genéticos/genética
Doença de Gilbert
Seres Humanos
Hiperbilirrubinemia Hereditária/diagnóstico
Hiperbilirrubinemia Hereditária/genética
Hiperbilirrubinemia Hereditária/terapia
Icterícia Idiopática Crônica/diagnóstico
Icterícia Idiopática Crônica/genética
Icterícia Idiopática Crônica/terapia
Fígado/metabolismo
Fígado/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1601
[Cu] Atualização por classe:171107
[Lr] Data última revisão:
171107
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:141016
[St] Status:MEDLINE
[do] DOI:10.1007/s12016-014-8454-7


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[PMID]:25336012
[Au] Autor:Okada H; Kusaka T; Fuke N; Kunikata J; Kondo S; Iwase T; Nan W; Hirota T; Ieiri I; Itoh S
[Ad] Endereço:Department of Pediatrics, Faculty of Medicine, Kagawa University, Kagawa, Japan.
[Ti] Título:Neonatal Dubin-Johnson syndrome: novel compound heterozygous mutation in the ABCC2 gene.
[So] Source:Pediatr Int;56(5):e62-4, 2014 Oct.
[Is] ISSN:1442-200X
[Cp] País de publicação:Australia
[La] Idioma:eng
[Ab] Resumo: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). We found a novel compound heterozygous mutation of DJS-related gene: W709R (T2145C): a missense mutation in exon 17, and R768W (C2302T), a missense mutation in exon 18. Serum diglucuronosyl bilirubin/monoglucuronosyl bilirubin ratio was high. ABCC2 may excrete diglucuronosyl bilirubin preferentially over monoglucuronosyl bilirubin.
[Mh] Termos MeSH primário: Icterícia Idiopática Crônica/genética
Proteínas Associadas à Resistência a Múltiplos Medicamentos/genética
Mutação
[Mh] Termos MeSH secundário: Feminino
Heterozigoto
Seres Humanos
Recém-Nascido
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Multidrug Resistance-Associated Proteins); 4AF605U6JN (multidrug resistance-associated protein 2)
[Em] Mês de entrada:1610
[Cu] Atualização por classe:170103
[Lr] Data última revisão:
170103
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:141023
[St] Status:MEDLINE
[do] DOI:10.1111/ped.12404


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[PMID]:24704527
[Au] Autor:Erlinger S; Arias IM; Dhumeaux D
[Ad] Endereço:University of Paris 7, Paris, France. Electronic address: serge.erlinger@gmail.com.
[Ti] Título:Inherited disorders of bilirubin transport and conjugation: new insights into molecular mechanisms and consequences.
[So] Source:Gastroenterology;146(7):1625-38, 2014 Jun.
[Is] ISSN:1528-0012
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo: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). Impairment of bilirubin secretion leads to accumulation of conjugated bilirubin (Dubin-Johnson syndrome). We review the genetic causes and pathophysiology of disorders of bilirubin transport and conjugation as well as clinical and therapeutic aspects. We also discuss the possible mechanisms by which hyperbilirubinemia protects against cardiovascular disease and the metabolic syndrome and the effects of specific genetic variants on drug metabolism and cancer development.
[Mh] Termos MeSH primário: Ácidos e Sais Biliares/metabolismo
Hiperbilirrubinemia Hereditária/metabolismo
Fígado/metabolismo
Proteínas de Membrana Transportadoras/metabolismo
[Mh] Termos MeSH secundário: Animais
Bile/metabolismo
Transporte Biológico
Síndrome de Crigler-Najjar/genética
Síndrome de Crigler-Najjar/metabolismo
Predisposição Genética para Doença
Doença de Gilbert/genética
Doença de Gilbert/metabolismo
Hepatócitos/metabolismo
Hereditariedade
Seres Humanos
Hiperbilirrubinemia Hereditária/genética
Hiperbilirrubinemia Hereditária/fisiopatologia
Icterícia Idiopática Crônica/genética
Icterícia Idiopática Crônica/metabolismo
Proteínas de Membrana Transportadoras/genética
Linhagem
Fenótipo
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Bile Acids and Salts); 0 (Membrane Transport Proteins)
[Em] Mês de entrada:1407
[Cu] Atualização por classe:140526
[Lr] Data última revisão:
140526
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:140408
[St] Status:MEDLINE


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[PMID]:24459177
[Au] Autor:Keppler D
[Ad] Endereço:German Cancer Research Center (DKFZ), Heidelberg, Germany.
[Ti] Título:The roles of MRP2, MRP3, OATP1B1, and OATP1B3 in conjugated hyperbilirubinemia.
[So] Source:Drug Metab Dispos;42(4):561-5, 2014 Apr.
[Is] ISSN:1521-009X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo: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. This efflux across the canalicular membrane is mediated by multidrug resistance protein 2 (MRP2 or ABCC2), which is a 190-kDa glycoprotein transporting with high affinity and efficiency monoglucuronosyl bilirubin and bisglucuronosyl bilirubin into bile. MRP2 is hereditarily deficient in human Dubin-Johnson syndrome. Under pathophysiological conditions such as cholestatic liver injury and MRP2 inhibition, the basolateral efflux pump multidrug resistance protein 3 (MRP3 or ABCC3) is responsible for the occurrence of conjugated hyperbilirubinemia. MRP3 is a glycoprotein with a similar molecular mass as MRP2, with 48% amino acid identity, and with overlapping substrate specificity. Human MRP3 is the only basolateral efflux pump shown to transport bilirubin glucuronides. In human and rat hepatocytes, MRP3/Mrp3 is strongly upregulated under conditions of cholestasis and MRP2 deficiency. This is in line with the concept that basolateral efflux pumps of the hepatocyte compensate for impaired canalicular efflux of compounds into bile and contribute to balance the rate of uptake or synthesis of compounds in hepatocytes with the capacity for efflux into bile.
[Mh] Termos MeSH primário: Hiperbilirrubinemia Hereditária/metabolismo
Proteínas Associadas à Resistência a Múltiplos Medicamentos/metabolismo
Transportadores de Ânions Orgânicos Sódio-Independentes/metabolismo
Transportadores de Ânions Orgânicos/metabolismo
[Mh] Termos MeSH secundário: Animais
Bile/metabolismo
Bilirrubina/análogos & derivados
Bilirrubina/sangue
Transporte Biológico
Hepatócitos/metabolismo
Seres Humanos
Hiperbilirrubinemia Hereditária/sangue
Icterícia Idiopática Crônica/sangue
Icterícia Idiopática Crônica/metabolismo
Membro 1B3 da Família de Transportadores de Ânion Orgânico Carreador de Soluto
Membro 1b1 da Família de Transportadores de Ânion Orgânico Carreador de Soluto
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Multidrug Resistance-Associated Proteins); 0 (Organic Anion Transporters); 0 (Organic Anion Transporters, Sodium-Independent); 0 (SLCO1B1 protein, human); 0 (SLCO1B3 protein, human); 0 (Solute Carrier Organic Anion Transporter Family Member 1B3); 0 (Solute Carrier Organic Anion Transporter Family Member 1b1); 1YV0492L5Z (multidrug resistance-associated protein 3); 27071-67-6 (bilirubin glucuronate); 4AF605U6JN (multidrug resistance-associated protein 2); RFM9X3LJ49 (Bilirubin)
[Em] Mês de entrada:1410
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:140125
[St] Status:MEDLINE
[do] DOI:10.1124/dmd.113.055772


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[PMID]:24228133
[Au] Autor:Li P; Wang Y; Zhang J; Geng M; Li Z
[Ad] Endereço:Department of Pathology, General Hospital of Jinan Military Command Jinan, Shandong Province 250031, China.
[Ti] Título:Dubin-Johnson syndrome with multiple liver cavernous hemangiomas: report of a familial case.
[So] Source:Int J Clin Exp Pathol;6(11):2636-9, 2013.
[Is] ISSN:1936-2625
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo: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. Extensive laboratory investigations showed conjugated hyperbilirubinaemia and positive urine bilirubin. Microscopically, lesions were composed of blood-filled vascular channels of various sizes lined by a single layer of flat endothelial cells supported by fibrous tissue. Coarse brown granules presented in the hepatocytes of the liver lobules locating beside the tumor, particularly in the centrilobular hepatocytes, and the granules showed blue-green with Schmorl's reaction lipofuscin staining. Interestingly, one of the patient's six siblings (female) shared the same condition with him. The relationship between DJS and hemangiomas remains unclear, and it might be contributed to some hereditary factors, or probably occurred simultaneously by chance. It was certified that the true reason for the long-term unclear jaundice was DJS, which was presumed clinically to be caused by bile excretion obstacles associated with the hemangiomas. Liver biopsy and histochemical stain may be helpful to identify the reason of jaundice and avoid misdiagnosis or an indefinite diagnosis.
[Mh] Termos MeSH primário: Hemangioma Cavernoso/complicações
Icterícia Idiopática Crônica/complicações
Neoplasias Hepáticas/complicações
Neoplasias Primárias Múltiplas
[Mh] Termos MeSH secundário: Erros de Diagnóstico/prevenção & controle
Feminino
Predisposição Genética para Doença
Hemangioma Cavernoso/diagnóstico
Hemangioma Cavernoso/genética
Hemangioma Cavernoso/cirurgia
Hepatectomia
Hereditariedade
Seres Humanos
Icterícia/etiologia
Icterícia Idiopática Crônica/diagnóstico
Icterícia Idiopática Crônica/genética
Neoplasias Hepáticas/diagnóstico
Neoplasias Hepáticas/genética
Neoplasias Hepáticas/cirurgia
Masculino
Meia-Idade
Linhagem
Fenótipo
Valor Preditivo dos Testes
Tomografia Computadorizada por Raios X
Resultado do Tratamento
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1407
[Cu] Atualização por classe:170220
[Lr] Data última revisão:
170220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:131115
[St] Status:MEDLINE



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