[1] |
MEMON N, WEINBERGER BI, HEGYI T, et al. Inherited disorders of bilirubin clearance[J]. Pediatr Res, 2016, 79( 3): 378- 386. DOI: 10.1038/pr.2015.247.
|
[2] |
WAGNER KH, SHIELS RG, LANG CA, et al. Diagnostic criteria and contributors to Gilbert’s syndrome[J]. Crit Rev Clin Lab Sci, 2018, 55( 2): 129- 139. DOI: 10.1080/10408363.2018.1428526.
|
[3] |
ERLINGER S, ARIAS IM, DHUMEAUX D. Inherited disorders of bilirubin transport and conjugation: New insights into molecular mechanisms and consequences[J]. Gastroenterology, 2014, 146( 7): 1625- 1638. DOI: 10.1053/j.gastro.2014.03.047.
|
[4] |
KAMAL S, ABDELHAKAM S, GHORABA D, et al. The frequency, clinical course, and health related quality of life in adults with Gilbert’s syndrome: A longitudinal study[J]. BMC Gastroenterol, 2019, 19( 1): 22. DOI: 10.1186/s12876-019-0931-2.
|
[5] |
KING D, ARMSTRONG MJ. Overview of Gilbert’s syndrome[J]. Drug Ther Bull, 2019, 57( 2): 27- 31. DOI: 10.1136/dtb.2018.000028.
|
[6] |
HUANG MJ, CHEN YC, HUANG YY, et al. Effect of UDP-glucuronosyltransferase 1A1 activity on risk for developing Gilbert’s syndrome[J]. Kaohsiung J Med Sci, 2019, 35( 7): 432- 439. DOI: 10.1002/kjm2.12077.
|
[7] |
HAMOUD AR, WEAVER L, STEC DE, et al. Bilirubin in the liver-gut signaling axis[J]. Trends Endocrinol Metab, 2018, 29( 3): 140- 150. DOI: 10.1016/j.tem.2018.01.002.
|
[8] |
INOGUCHI T, SASAKI S, KOBAYASHI K, et al. Relationship between Gilbert syndrome and prevalence of vascular complications in patients with diabetes[J]. JAMA, 2007, 298( 12): 1398- 1400. DOI: 10.1001/jama.298.12.1398-b.
|
[9] |
NANO J, MUKA T, CEPEDA M, et al. Association of circulating total bilirubin with the metabolic syndrome and type 2 diabetes: A systematic review and meta-analysis of observational evidence[J]. Diabetes Metab, 2016, 42( 6): 389- 397. DOI: 10.1016/j.diabet.2016.06.002.
|
[10] |
NOVOTNÝ L, VÍTEK L. Inverse relationship between serum bilirubin and atherosclerosis in men: A meta-analysis of published studies[J]. Exp Biol Med(Maywood), 2003, 228( 5): 568- 571. DOI: 10.1177/15353702-0322805-29.
|
[11] |
RUBINO A, BARBIERI A, PIERRO M. Therapeutic use of Luminal in Crigler-Najjar type icterus[J]. Pediatria(Napoli), 1968, 76( 3): 358- 365.
|
[12] |
KUMAR P, SASMAL G, GUPTA S, et al. Crigler najjar syndrome type 2(CNS type 2): An unwonted cause of jaundice in adults[J]. J Clin Diagn Res, 2017, 11( 7): OD05-OD 06. DOI: 10.7860/JCDR/2017/28195.10221.
|
[13] |
FERNANDES SR, MOURA CM, RODRIGUES B, et al. Acute cholangitis in an old patient with Crigler-Najjar syndrome type II- a case report[J]. BMC Gastroenterol, 2016, 16: 33. DOI: 10.1186/s12876-016-0449-9.
|
[14] |
MARUO Y, BEHNAM M, IKUSHIRO S, et al. Two different UGT1A1 mutations causing Crigler-Najjar syndrome types I and II in an Iranian family[J]. J Gastrointestin Liver Dis, 2015, 24( 4): 523- 526. DOI: 10.15403/jgld.2014.1121.244.ugt.
|
[15] |
GAILITE L, ROTS D, PUKITE I, et al. Case report: Multiple UGT1A1 gene variants in a patient with Crigler-Najjar syndrome[J]. BMC Pediatr, 2018, 18( 1): 317. DOI: 10.1186/s12887-018-1285-6.
|
[16] |
ZHENG BX, HU GR, YU J, et al. Crigler-Najjar syndrome type II in a Chinese boy resulting from three mutations in the bilirubin uridine 5′-diphosphate-glucuronosyltransferase(UGT1A1) gene and a family genetic analysis[J]. BMC Pediatr, 2014, 14: 267. DOI: 10.1186/1471-2431-14-267.
|
[17] |
WU JX, CHENG GY, HUANG J. A homozygous mutation in a Chinese man with Crigler-Najjar syndrome type II and a family genetic analysis[J]. J Dig Dis, 2008, 9( 2): 89- 94. DOI: 10.1111/j.1751-2980.2008.00328.x.
|
[18] |
MARUO Y, OZGENC F, MIMURA Y, et al. Compound heterozygote of a novel missense mutation(p.K402T) and a double missense mutation(p.[G71R;Y486D]) in type II crigler-najjar syndrome[J]. J Pediatr Gastroenterol Nutr, 2011, 52( 3): 362- 365. DOI: 10.1097/MPG.0b013e3181fcafb8.
|
[19] |
YAMAMOTO K, SATO H, FUJIYAMA Y, et al. Contribution of two missense mutations(G71R and Y486D) of the bilirubin UDP glycosyltransferase(UGT1A1) gene to phenotypes of Gilbert’s syndrome and Crigler-Najjar syndrome type II[J]. Biochim Biophys Acta, 1998, 1406( 3): 267- 273. DOI: 10.1016/s0925-4439(98)00013-1.
|
[20] |
CHAUBAL AN, PATEL R, CHOKSI D, et al. Management of pregnancy in Crigler Najjar syndrome type 2[J]. World J Hepatol, 2016, 8( 11): 530- 532. DOI: 10.4254/wjh.v8.i11.530.
|
[21] |
TOH S, WADA M, UCHIUMI T, et al. Genomic structure of the canalicular multispecific organic anion-transporter gene(MRP2/cMOAT) and mutations in the ATP-binding-cassette region in Dubin-Johnson syndrome[J]. Am J Hum Genet, 1999, 64( 3): 739- 746. DOI: 10.1086/302292.
|
[22] |
WU LN, LI YM, SONG Y, et al. A recurrent ABCC2 p.693R mutation resulting in loss of function of MRP2 and hyperbilirubinemia in Dubin-Johnson syndrome in China[J]. Orphanet J Rare Dis, 2020, 15( 1): 74. DOI: 10.1186/s13023-020-1346-4.
|
[23] |
van de STEEG E, STRÁNECKÝ V, HARTMANNOVÁ H, et al. Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver[J]. J Clin Invest, 2012, 122( 2): 519- 528. DOI: 10.1172/JCI59526.
|
[24] |
CORPECHOT C, BARBU V, CHAZOUILLÈRES O, et al. Genetic contribution of ABCC2 to Dubin-Johnson syndrome and inherited cholestatic disorders[J]. Liver Int, 2020, 40( 1): 163- 174. DOI: 10.1111/liv.14260.
|
[25] |
ZHOU DH, QI SP, ZHANG W, et al. Insertion of LINE-1 retrotransposon inducing exon inversion causes a rotor syndrome phenotype[J]. Front Genet, 2019, 10: 1399. DOI: 10.3389/fgene.2019.01399.
|
[26] |
KAGAWA T, OKA A, KOBAYASHI Y, et al. Recessive inheritance of population-specific intronic LINE-1 insertion causes a rotor syndrome phenotype[J]. Hum Mutat, 2015, 36( 3): 327- 332. DOI: 10.1002/humu.22745.
|
[27] |
VITEK L, BELLAROSA C, TIRIBELLI C. Induction of mild hyperbilirubinemia: Hype or real therapeutic opportunity?[J]. Clin Pharmacol Ther, 2019, 106( 3): 568- 575. DOI: 10.1002/cpt.1341.
|
[28] |
DANIELSON ML, SAWADA GA, RAUB TJ, et al. In silico and in vitro assessment of OATP1B1 inhibition in drug discovery[J]. Mol Pharm, 2018, 15( 8): 3060- 3068. DOI: 10.1021/acs.molpharmaceut.8b00168.
|
[29] |
FORTUNATO G, IORIO R, ESPOSITO P, et al. Macroenzyme investigation and monitoring in children with persistent increase of aspartate aminotransferase of unexplained origin[J]. J Pediatr, 1998, 133( 2): 286- 289. DOI: 10.1016/s0022-3476(98)70238-0.
|
[30] |
CHTIOUI H, MAUERHOFER O, GÜNTHER B, et al. Macro-AST in an asymptomatic young patient[J]. Ann Hepatol, 2010, 9( 1): 93- 95. DOI: 10.1016/s1665-2681(19)31687-4.
|
[31] |
LORD R, FAHIE-WILSON M, SURI S. A paediatric case of macro aspartate aminotransferase[J]. Ann Clin Biochem, 2008, 45( 3): 323- 324. DOI: 10.1258/acb.2007.007094.
|
[32] |
KONTTINEN A, MURROS J, OJALA K, et al. A new cause of increased serum aspartate aminotransferase activity[J]. Clin Chim Acta, 1978, 84( 1-2): 145- 147. DOI: 10.1016/0009-8981(78)90487-4.
|
[33] |
TRIESTER SL, DOUGLAS DD. Development of macro-aspartate aminotransferase in a patient undergoing specific allergen injection immunotherapy[J]. Am J Gastroenterol, 2005, 100( 1): 243- 245. DOI: 10.1111/j.1572-0241.2005.41284.x.
|
[34] |
KULECKA M, WIERZBICKA A, PAZIEWSKA A, et al. A heterozygous mutation in GOT1 is associated with familial macro-aspartate aminotransferase[J]. J Hepatol, 2017, 67( 5): 1026- 1030. DOI: 10.1016/j.jhep.2017.07.003.
|
[35] |
CASTIELLA A, AGUAYO FJ, RUEDA M, et al. Macroaspartate aminotransferase(Macro-AST) a rare cause of hipertransaminasemia: Another way to diagnosis?[J]. J Clin Gastroenterol, 2006, 40( 7): 655. DOI: 10.1097/00004836-200608000-00024.
|
[36] |
CAROPRESO M, FORTUNATO G, LENTA S, et al. Prevalence and long-term course of macro-aspartate aminotransferase in children[J]. J Pediatr, 2009, 154( 5): 744- 748. DOI: 10.1016/j.jpeds.2008.11.010.
|
[37] |
WERNER T, VARGAS HE, CHALASANI N. Macro-aspartate aminotransferase and monoclonal gammopathy: A review of two cases[J]. Dig Dis Sci, 2007, 52( 5): 1197- 1198. DOI: 10.1007/s10620-006-9555-9.
|
[38] |
CABRERA-ABREU J, JAIN R, ROBINSON P, et al. A case of aspartate aminotransferase macroenzyme[J]. Ann Clin Biochem, 2008, 45( Pt 3): 320- 322. DOI: 10.1258/acb.2007.007063.
|
[39] |
SHAH-KHAN SM, HSUEH W, REYNOLDS GJ. An 8-year history of increased level of aspartate aminotransferase[J]. Gastroenterology, 2019, 157( 2): 318- 319. DOI: 10.1053/j.gastro.2018.11.079.
|
[40] |
MCTAGGART MP, RAWSON C, LAWRENCE D, et al. Identification of a macro-alkaline phosphatase complex in a patient with inflammatory bowel disease[J]. Ann Clin Biochem, 2012, 49( Pt 4): 405- 407. DOI: 10.1258/acb.2011.011224.
|
[41] |
KLONOFF DC. Macroamylasemia and other immunoglobulin-complexed enzyme disorders[J]. West J Med, 1980, 133( 5): 392- 407.
|
[42] |
CERVINSKI MA, LEE HK, MARTIN IW, et al. A macro-enzyme cause of an isolated increase of alkaline phosphatase[J]. Clin Chim Acta, 2015, 440: 169- 171. DOI: 10.1016/j.cca.2014.11.017.
|
[43] |
WATANABE M, KITAHORA T, AISO S, et al. A case of ulcerative colitis associated with alkaline phosphatase(ALP)-and lactate dehydrogenase(LDH)-binding immunoglobulins[J]. Nihon Shokakibyo Gakkai Zasshi, 1984, 81( 6): 1468- 1473.
|
[44] |
KUNUTSOR SK. Gamma-glutamyltransferase-friend or foe within?[J]. Liver Int, 2016, 36( 12): 1723- 1734. DOI: 10.1111/liv.13221.
|
[45] |
de GRANDI A, FRANZINI M, ROSIPAL Š, et al. Highly elevated plasma γ-glutamyltransferase elevations: A trait caused by γ-glutamyltransferase 1 transmembrane mutations[J]. Hepatology, 2020, 71( 3): 1124- 1127. DOI: 10.1002/hep.30944.
|
[46] |
FRANZINI M, FORNACIARI I, FIERABRACCI V, et al. Accuracy of b-GGT fraction for the diagnosis of non-alcoholic fatty liver disease[J]. Liver Int, 2012, 32( 4): 629- 634. DOI: 10.1111/j.1478-3231.2011.02673.x.
|
[47] |
FORNACIARI I, FIERABRACCI V, CORTI A, et al. Gamma-glutamyltransferase fractions in human plasma and bile: Characteristic and biogenesis[J]. PLoS One, 2014, 9( 2): e88532. DOI: 10.1371/journal.pone.0088532.
|
[48] |
VAZ FM, PAULUSMA CC, HUIDEKOPER H, et al. Sodium taurocholate cotransporting polypeptide(SLC10A1) deficiency: Conjugated hypercholanemia without a clear clinical phenotype[J]. Hepatology, 2015, 61( 1): 260- 267. DOI: 10.1002/hep.27240.
|
[49] |
ERLINGER S. NTCP deficiency: A new inherited disease of bile acid transport[J]. Clin Res Hepatol Gastroenterol, 2015, 39( 1): 7- 8. DOI: 10.1016/j.clinre.2014.07.011.
|
[50] |
GÄLMAN C, ANGELIN B, RUDLING M. Pronounced variation in bile acid synthesis in humans is related to gender, hypertriglyceridaemia and circulating levels of fibroblast growth factor 19[J]. J Intern Med, 2011, 270( 6): 580- 588. DOI: 10.1111/j.1365-2796.2011.02466.x.
|
[51] |
DENG LJ, OUYANG WX, LIU R, et al. Clinical characterization of NTCP deficiency in paediatric patients: A case-control study based on SLC10A1 genotyping analysis[J]. Liver Int, 2021, 41( 11): 2720- 2728. DOI: 10.1111/liv.15031.
|
[52] |
ROSENMAN KD, GUSS PS. Prevalence of congenital deficiency in serum cholinesterase[J]. Arch Environ Health, 1997, 52( 1): 42- 44. DOI: 10.1080/00039899709603798.
|
[53] |
BRAZZOLOTTO X, COURCELLE S, SAUVANET C, et al. Characterization of four BCHE mutations associated with prolonged effect of suxamethonium[J]. Pharmacogenomics J, 2021, 21( 2): 165- 173. DOI: 10.1038/s41397-020-00192-7.
|