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  1 / 903 MEDLINE  
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[PMID]:27539103
[Au] Autor:Stránecký V; Neroldová M; Hodanová K; Hartmannová H; Piherová L; Zemánková P; Pristoupilová A; Vrablík M; Adámková V; Kmoch S; Jirsa M
[Ad] Endereço:Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic; Institute for Clinical and Experimental Medicine, Prague, Czech Republic. miji@ikem.cz.
[Ti] Título:Large copy-number variations in patients with statin-associated myopathy affecting statin myopathy-related loci.
[So] Source:Physiol Res;65(6):1005-1011, 2016 Dec 13.
[Is] ISSN:1802-9973
[Cp] País de publicação:Czech Republic
[La] Idioma:eng
[Ab] Resumo:Some patients are susceptible to statin-associated myopathy (SAM) either because of genetic variations affecting statin uptake and metabolism, or because they predispose their carriers to muscular diseases. Among the frequent variants examined using the genome-wide association study approach, SLCO1B1 c.521T>C represents the only validated predictor of SAM in patients treated with high-dose simvastatin. Our aim was to ascertain the overall contribution of large copy-number variations (CNVs) to SAM diagnosed in 86 patients. CNVs were detected by whole genome genotyping using Illumina HumanOmni2.5 Exome BeadChips. Exome sequence data were used for validation of CNVs in SAM-related loci. In addition, we performed a specific search for CNVs in the SLCO1B region detected recently in Rotor syndrome subjects. Rare deletions possibly contributing to genetic predisposition to SAM were found in two patients: one removed EYS associated previously with SAM, the other was present in LARGE associated with congenital muscular dystrophy. Another two patients carried deletions in CYP2C19, which may predispose to clopidogrel-statin interactions. We found no common large CNVs potentially associated with SAM and no CNVs in the SLCO1B locus. Our findings suggest that large CNVs do not play a substantial role in the etiology of SAM.
[Mh] Termos MeSH primário: Variações do Número de Cópias de DNA/genética
Inibidores de Hidroximetilglutaril-CoA Redutases/efeitos adversos
Doenças Musculares/induzido quimicamente
Doenças Musculares/genética
[Mh] Termos MeSH secundário: Adulto
Idoso
Idoso de 80 Anos ou mais
Estudos de Casos e Controles
Creatina Quinase/sangue
Citocromo P-450 CYP2C19/genética
Feminino
Loci Gênicos
Genoma Humano
Estudo de Associação Genômica Ampla
Genótipo
Heterozigoto
Seres Humanos
Hiperbilirrubinemia Hereditária/genética
Masculino
Meia-Idade
Membro 1b1 da Família de Transportadores de Ânion Orgânico Carreador de Soluto/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Hydroxymethylglutaryl-CoA Reductase Inhibitors); 0 (SLCO1B1 protein, human); 0 (Solute Carrier Organic Anion Transporter Family Member 1b1); EC 1.14.14.1 (CYP2C19 protein, human); EC 1.14.14.1 (Cytochrome P-450 CYP2C19); EC 2.7.3.2 (Creatine Kinase)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170330
[Lr] Data última revisão:
170330
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160820
[St] Status:MEDLINE


  2 / 903 MEDLINE  
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[PMID]:27323053
[Au] Autor:Guo XH; Sun YF; Cui M; Wang JB; Han SZ; Miao J
[Ad] Endereço:Department of Pediatrics, Binzhou People's Hospital, Binzhou, Shandong, China.
[Ti] Título:Analysis of uridine diphosphate glucuronosyl transferase 1A1 gene mutations in neonates with unconjugated hyperbilirubinemia.
[So] Source:Genet Mol Res;15(2), 2016 May 20.
[Is] ISSN:1676-5680
[Cp] País de publicação:Brazil
[La] Idioma:eng
[Ab] Resumo:This study was carried out to analyze uridine diphosphate (UDP)-glucuronosyltransferase 1A1 (UGT1A1) gene mutations in neonates with unconjugated hyperbilirubinemia, from two different ethnic groups. Polymerase chain reaction and gene sequencing were used to analyze the differences in genotypes and allele frequencies of different gene mutations among the ethnic groups; this was followed by checking their correlation with the serum bilirubin level and the occurrence of unconjugated hyperbilirubinemia in neonates. Our results reveal that the UGT1A1 mutant genotype, 211G>A, is distributed differently in the case vs control groups, as well as in the Zhuang vs Han ethnic groups. Moreover, this difference is statistically significant (P < 0.05); the total serum bilirubin (TSB) and unconjugated bilirubin (UCB) levels in patients carrying the single homozygous mutation, 211G>A, were markedly higher than that in patients without the mutation (P < 0.05). Furthermore, the TSB and UCB levels were significantly different between patients carrying single or compound 211G>A heterozygous mutation, (TA)6/7, and 1941C>G/2042C>G heterozygous mutation, and patients without mutation (P > 0.05). Our findings suggest that the 211G>A mutation in the first exon may be a risk factor for unconjugated hyperbilirubinemia in Zhuang and Han neonates. The serum bilirubin levels seem to be affected by the homozygosity or heterozygosity of the UGT1A1 gene mutation; 211G>A homozygous mutation is an important factor that causes a rise in bilirubin in neonates with unconjugated hyperbilirubinemia.
[Mh] Termos MeSH primário: Estudos de Associação Genética
Predisposição Genética para Doença
Glucuronosiltransferase/genética
Hiperbilirrubinemia Hereditária/genética
[Mh] Termos MeSH secundário: Bilirrubina/sangue
Feminino
Frequência do Gene
Genótipo
Heterozigoto
Homozigoto
Seres Humanos
Hiperbilirrubinemia Hereditária/sangue
Hiperbilirrubinemia Hereditária/patologia
Recém-Nascido
Masculino
Mutação
Polimorfismo de Nucleotídeo Único
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.4.1.- (UGT1A1 enzyme); EC 2.4.1.17 (Glucuronosyltransferase); RFM9X3LJ49 (Bilirubin)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170209
[Lr] Data última revisão:
170209
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160621
[St] Status:MEDLINE
[do] DOI:10.4238/gmr.15028373


  3 / 903 MEDLINE  
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[PMID]:27292444
[Au] Autor:Agarwal AM; Nussenzveig RH; Reading NS; Patel JL; Sangle N; Salama ME; Prchal JT; Perkins SL; Yaish HM; Christensen RD
[Ad] Endereço:Department of Pathology, University of Utah and ARUP Laboratories, Salt Lake City, UT, USA.
[Ti] Título:Clinical utility of next-generation sequencing in the diagnosis of hereditary haemolytic anaemias.
[So] Source:Br J Haematol;174(5):806-14, 2016 Sep.
[Is] ISSN:1365-2141
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Hereditary haemolytic anaemias are genetically and phenotypically heterogeneous disorders characterized by increased red cell destruction, with consequences ranging from innocuous to severe life-threatening anaemia. Diagnostic laboratories endeavour to assist clinicians reach the exact patient diagnosis by using tests principally based on morphological and biochemical techniques. However, these routine studies may be inconclusive, particularly in newborn infants and when transfusions have recently been administered. Large numbers and size of the potentially involved genes also impose a practical challenge for molecular diagnosis using routine sequencing approaches. To overcome these diagnostic shortcomings, we have utilized next-generation sequencing to provide a high-throughput, highly sensitive assay. We developed a panel interrogating 28 genes encoding cytoskeletal proteins and enzymes with sequencing coverage of the coding regions, splice site junctions, deep intronic and regulatory regions. We then evaluated 19 samples, including infants with unexplained extreme hyperbilirubinaemia and patients with transfusion-dependent haemolytic anaemia. Where possible, inheritance patterns of pathogenic mutations were determined by sequencing of immediate relatives. We conclude that this next-generation sequencing panel could be a cost-effective approach to molecular diagnosis of hereditary haemolytic anaemia, especially when the family history is uninformative or when routine laboratory testing fails to identify the causative haemolytic process.
[Mh] Termos MeSH primário: Anemia Hemolítica Congênita/diagnóstico
Sequenciamento de Nucleotídeos em Larga Escala/métodos
[Mh] Termos MeSH secundário: Adolescente
Adulto
Anemia Hemolítica Congênita/genética
Criança
Pré-Escolar
Proteínas do Citoesqueleto/genética
Enzimas/genética
Componentes do Gene/genética
Sequenciamento de Nucleotídeos em Larga Escala/economia
Seres Humanos
Hiperbilirrubinemia Hereditária/diagnóstico
Lactente
Recém-Nascido
Técnicas de Diagnóstico Molecular/economia
Técnicas de Diagnóstico Molecular/métodos
Mutação
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Cytoskeletal Proteins); 0 (Enzymes)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170606
[Lr] Data última revisão:
170606
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160614
[St] Status:MEDLINE
[do] DOI:10.1111/bjh.14131


  4 / 903 MEDLINE  
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[PMID]:26914295
[Au] Autor:Andre M; Day AS
[Ad] Endereço:Paediatric Outpatient Department, Christchurch Hospital, 2 Riccarton Avenue, Christchurch, 4710, New Zealand. drmargaretandre@gmail.com.
[Ti] Título:Causes of prolonged jaundice in infancy: 3-year experience in a tertiary paediatric centre.
[So] Source:N Z Med J;129(1429):14-21, 2016 Jan 29.
[Is] ISSN:1175-8716
[Cp] País de publicação:New Zealand
[La] Idioma:eng
[Ab] Resumo:UNLABELLED: Although prolonged jaundice (PJ) commonly occurs in infancy, there is not yet agreement as to the appropriate extent of investigations, particularly in otherwise well children. Significant pathologies may present with PJ in this age group and need to be considered. AIM: The aim of this retrospective study was to ascertain the causes of PJ in infants referred to a single tertiary paediatric centre. METHODS: Infants referred with PJ over a 3-year period were identified. Clinical documentation, electronic notes and results of investigations performed prior to and after referral were reviewed. RESULTS: One hundred and sixty-seven infants with PJ were seen. Fifty-eight percent were over 28 days of age. Four patients had conjugated hyperbilirubinaemia. Eighteen percent of patients were found to have a specific medical diagnosis causing or contributing to PJ, almost half of whom had normal clinical examination. The single most common pathological cause for PJ was hypothyroidism found in six patients. CONCLUSIONS: This study demonstrates that normal clinical examination and exclusion of conjugated hyperbilirubinaemia are insufficient to exclude pathological causes of PJ. Overall, these children were referred late. Guidelines, in conjunction with education initiatives, are required to optimise the management of prolonged jaundice in infancy.
[Mh] Termos MeSH primário: Icterícia/etiologia
[Mh] Termos MeSH secundário: Feminino
Hospitais Pediátricos
Seres Humanos
Hiperbilirrubinemia Hereditária/complicações
Hiperbilirrubinemia Hereditária/diagnóstico
Hipotireoidismo/complicações
Hipotireoidismo/diagnóstico
Lactente
Recém-Nascido
Masculino
Estudos Retrospectivos
Centros de Atenção Terciária
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1607
[Cu] Atualização por classe:160226
[Lr] Data última revisão:
160226
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160226
[St] Status:MEDLINE


  5 / 903 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


  6 / 903 MEDLINE  
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[PMID]:26508179
[Au] Autor:Sirucek P; Sulakova A; Jirsa M; Mrhac L; Havel M; Kraft O
[Ad] Endereço:Faculty Hospital and Faculty of Medicine, Ostrava.
[Ti] Título:Radionuclide cholescintigraphy in genetically confirmed Rotor syndrome.
[So] Source:Pediatr Int;57(5):981-5, 2015 Oct.
[Is] ISSN:1442-200X
[Cp] País de publicação:Australia
[La] Idioma:eng
[Ab] Resumo:A 7-year-old girl had been followed up for persistent conjugated hyperbilirubinemia since birth. Alanine aminotransferase, aspartate aminotransferase and γ-glutamyl transpeptidase activity was within the normal range, and liver protein synthesis had always been normal. Infectious etiology of jaundice, autoimmune diseases, drug-induced liver injury, hemolytic anemia, α-1 anti-trypsin deficiency, Wilson disease and Gilbert syndrome were ruled out. At the age of 8 years the patient underwent radionuclide dynamic cholescintigraphy, indicating poor accumulation of the radiotracer in the liver on one hand, and severe retention of the radiopharmaceutical in the blood pool (including the heart) on the other hand. Rotor syndrome was suspected and finally confirmed on molecular analysis. This case represents the first cholescintigraphy report in a pediatric patient with genetically proven Rotor syndrome.
[Mh] Termos MeSH primário: Colecistografia/métodos
Vesícula Biliar/diagnóstico por imagem
Hiperbilirrubinemia Hereditária/diagnóstico
Icterícia/etiologia
Cintilografia/métodos
[Mh] Termos MeSH secundário: Criança
Diagnóstico Diferencial
Feminino
Seres Humanos
Hiperbilirrubinemia Hereditária/complicações
Icterícia/diagnóstico
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1612
[Cu] Atualização por classe:161230
[Lr] Data última revisão:
161230
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151029
[St] Status:MEDLINE
[do] DOI:10.1111/ped.12676


  7 / 903 MEDLINE  
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[PMID]:25546334
[Au] Autor:Kagawa T; Oka A; Kobayashi Y; Hiasa Y; Kitamura T; Sakugawa H; Adachi Y; Anzai K; Tsuruya K; Arase Y; Hirose S; Shiraishi K; Shiina T; Sato T; Wang T; Tanaka M; Hayashi H; Kawabe N; Robinson PN; Zemojtel T; Mine T
[Ad] Endereço:Division of Gastroenterology, Department of Internal Medicine, Tokai University School of Medicine, Isehara, Japan.
[Ti] Título:Recessive inheritance of population-specific intronic LINE-1 insertion causes a rotor syndrome phenotype.
[So] Source:Hum Mutat;36(3):327-32, 2015 Mar.
[Is] ISSN:1098-1004
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Sequences of long-interspersed elements (LINE-1, L1) make up ∼17% of the human genome. De novo insertions of retrotransposition-active L1s can result in genetic diseases. It has been recently shown that the homozygous inactivation of two adjacent genes SLCO1B1 and SLCO1B3 encoding organic anion transporting polypeptides OATP1B1 and OATP1B3 causes a benign recessive disease presenting with conjugated hyperbilirubinemia, Rotor syndrome. Here, we examined SLCO1B1 and SLCO1B3 genes in six Japanese diagnosed with Rotor syndrome on the basis of laboratory data and laparoscopy. All six Japanese patients were homozygous for the c.1738C>T nonsense mutation in SLCO1B1 and homozygous for the insertion of a ∼6.1-kbp L1 retrotransposon in intron 5 of SLCO1B3, which altogether make up a Japanese-specific haplotype. RNA analysis revealed that the L1 insertion induced deleterious splicing resulting in SLCO1B3 transcripts lacking exon 5 or exons 5-7 and containing premature stop codons. The expression of OATP1B1 and OATP1B3 proteins was not detected in liver tissues. This is the first documented case of a population-specific polymorphic intronic L1 transposon insertion contributing to molecular etiology of recessive genetic disease. Since L1 activity in human genomes is currently seen as a major source of individual genetic variation, further investigations are warranted to determine whether this phenomenon results in other autosomal-recessive diseases.
[Mh] Termos MeSH primário: Doenças Genéticas Inatas/genética
Hiperbilirrubinemia Hereditária/genética
Íntrons
Elementos Nucleotídeos Longos e Dispersos
[Mh] Termos MeSH secundário: Adulto
Feminino
Seres Humanos
Masculino
Meia-Idade
Transportadores de Ânions Orgânicos/genética
Transportadores de Ânions Orgânicos Sódio-Independentes/genética
Fenótipo
Retroelementos
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
[Nm] Nome de substância:
0 (Organic Anion Transporters); 0 (Organic Anion Transporters, Sodium-Independent); 0 (Retroelements); 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)
[Em] Mês de entrada:1511
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:141230
[St] Status:MEDLINE
[do] DOI:10.1002/humu.22745


  8 / 903 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


  9 / 903 MEDLINE  
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[PMID]:24839786
[Au] Autor:Radlovic N
[Ti] Título:Hereditary hyperbilirubinemias.
[So] Source:Srp Arh Celok Lek;142(3-4):257-60, 2014 Mar-Apr.
[Is] ISSN:0370-8179
[Cp] País de publicação:Serbia
[La] Idioma:eng
[Ab] Resumo: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.
[Mh] Termos MeSH primário: Hiperbilirrubinemia Hereditária
[Mh] Termos MeSH secundário: Bilirrubina/genética
Bilirrubina/metabolismo
Síndrome de Crigler-Najjar/epidemiologia
Síndrome de Crigler-Najjar/genética
Síndrome de Crigler-Najjar/terapia
Doença de Gilbert/epidemiologia
Doença de Gilbert/genética
Doença de Gilbert/terapia
Seres Humanos
Hiperbilirrubinemia/epidemiologia
Hiperbilirrubinemia/genética
Hiperbilirrubinemia/terapia
Hiperbilirrubinemia Hereditária/classificação
Hiperbilirrubinemia Hereditária/epidemiologia
Hiperbilirrubinemia Hereditária/genética
Hiperbilirrubinemia Hereditária/terapia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
RFM9X3LJ49 (Bilirubin)
[Em] Mês de entrada:1510
[Cu] Atualização por classe:140520
[Lr] Data última revisão:
140520
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:140521
[St] Status:MEDLINE


  10 / 903 MEDLINE  
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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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