中文English
ISSN 1001-5256 (Print)
ISSN 2097-3497 (Online)
CN 22-1108/R
Volume 40 Issue 2
Feb.  2024
Turn off MathJax
Article Contents

Clinical significance of benign liver function abnormality

DOI: 10.12449/JCH240231
Research funding:

National Natural Science Foundation of China (81970454);

Key Project of Jiangsu Provincial Health Commission (ZD2021061)

More Information
  • Corresponding author: YANG Yongfeng, yangyongfeng@njucm.edu.cn (ORCID: 0000-0002-3214-0038)
  • Received Date: 2023-06-11
  • Accepted Date: 2023-07-26
  • Published Date: 2024-02-19
  • Biochemical liver function tests are important methods to determine liver function in clinical practice, but abnormal liver biochemical parameters are not completely equivalent to liver damage. Some genetic and immune factors can also cause abnormal liver biochemical parameters, but with good prognosis in most cases. This article summarizes the causes of some benign abnormal liver biochemical parameters, so as to help clinicians to broaden their thinking of diagnosis and treatment, take into account genetic and immune factors, and avoid misdiagnosis and mistreatment.

     

  • loading
  • [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.
  • 加载中

Catalog

    通讯作者: 陈斌, bchen63@163.com
    • 1. 

      沈阳化工大学材料科学与工程学院 沈阳 110142

    1. 本站搜索
    2. 百度学术搜索
    3. 万方数据库搜索
    4. CNKI搜索

    Article Metrics

    Article views (590) PDF downloads(176) Cited by()
    Proportional views
    Related

    /

    DownLoad:  Full-Size Img  PowerPoint
    Return
    Return