先天性胆汁酸合成障碍与胆汁淤积性肝病

方玲娟; 王建设

先天性胆汁酸合成障碍与胆汁淤积性肝病

复旦大学附属儿科医院

详细信息

中图分类号: R575
计量
- 文章访问数: 22494
- HTML全文浏览量: 461
- PDF下载量: 2110
- 被引次数: 0
出版历程
- 出版日期: 2010-06-20

Congenital bile acid synthesis defect and cholestatic liver disease

摘要

摘要: 胆汁淤积性肝病病因多样,先天性胆汁酸合成障碍(CBAS)就是其中之一。CBAS多属于常染色体隐性遗传,由胆汁酸合成过程中的酶缺陷所致。虽罕见,但由于CBAS病人多数早期可通过口服补充胆汁酸及脂溶性维生素等治疗获得良好疗效,因此早期明确诊断尤为重要。现对此病的病因、临床表现、诊断、治疗等作一综述。
- 胆汁淤积,肝内 /
- 先天性胆汁酸合成障碍
Abstract: The etiologies of cholestatic liver disease are various and complicated.Congenital bile acid synthesis defect (CBAS) is about 1%-2% of children's cholestasis.CBAS usually occured by autosomal recessive inheritance, due to various enzymes defect in bile acid synthesis.Although very rare, CBAS are treatable, usually by replacement of the deficient primary bile acids.Therefore, early diagnosis and treatment are very important for patients with CBAS.This paper summarized the etiology, clinical manifestations, diagnosis, treatment and so on.
- cholestasis /
- intrahepatic

HTML全文

参考文献(24)

[1]Bove KE, Heubi JE, Balistreri WF, et al.Bile acid synthetic defects and liver disease:a comprehensive review[J].Pediatr Dev Pathol, 2004, 7 (4) ∶315-334.

[2]Monte MJ, Marin JJ, Antelo A, et al.Bile acids:chemistry, physiology, and pathophysiology[J].World J Gastroenterol, 2009, 15 (7) ∶804-816.

[3]Clayton PT, Leonard JV, Lawson AM, et al.Familial giant cell hepatitis associated with synthesis of3beta, 7alpha-dihydroxy and3beta, 7alpha, 12alpha-trihydroxy-5-cholenoic acids[J].J Clin Invest, 1987, 79 (4) ∶1031-1038.

[4]Cheng JB, Jacquemin E, Gerhardt M, et al.Molecular genetics of3beta-hydroxy-Delta5-C27-steroid oxidoreductase deficiency in16patients with loss of bile acid synthesis and liver disease[J].J Clin Endocrinol Metab, 2003, 88 (4) ∶1833-1841.

[5]Fischler B, Bodin K, Stjernman H, et al.Cholestatic liver disease in adults may be due to an inherited defect in bile acid biosynthesis[J].J Intern Med, 2007, 262 (2) ∶254-262.

[6]Jacquemin E, Setchell KD, O'Connell NC, et al.A new cause of progressive intrahepatic cholestasis:3beta-hydroxy-C27-steroid dehydrogenase/isomerase deficiency[J].J Pediatr, 1994, 125 (3) ∶379-384.

[7]Subramaniam P, Clayton PT, Portmann BC, et al.Variable clinical spectrum of the most common inborn error of bile acid metabolism3beta-hydroxy-Delta5-C27-steroid dehydrogenase deficiency[J].J Pediatr Gastroenterol Nutr, 2010, 50 (1) ∶910.

[8]Setchell KD, Suchy FJ, Welsh MB, et al.Delta4-3-oxosteroid5beta-reductase deficiency described in identical twins with neonatal hepatitis.A new inborn error in bile acid synthesis[J].J Clin Invest, 1988, 82 (6) ∶2148-2157.

[9]Lemonde HA, Custard EJ, Bouquet J, et al.Mutations in SRD5B1 (AKR1D1) , the gene encoding delta (4) -3-oxosteroid5beta reductase, in hepatitis and liver failure in infancy[J].Gut, 2003, 52 (10) ∶1494-1499.

[10]Gonzales E, Cresteil D, Baussan C, et al.SRD5B1 (AKR1D1) gene analysis in delta (4) -3-oxosteroid5beta-reductase deficiency:evidence for primary genetic defect[J].J Hepatol, 2004, 40 (4) ∶716-718.

[11]Ueki I, Kimura A, Chen HL, et al.SRD5B1gene analysis needed for the accurate diagnosis of primary3-oxo-Delta-steroid5beta-reductase deficiency[J].J Gastroenterol Hepatol, 2009, 24 (5) ∶776-785.

[12]Setchell KD, Schwarz M, O'Connell NC, et al.Identification of a new inborn error in bile acid synthesis:mutation of the oxysterol7alpha-hydroxylase gene causes severe neonatal liver disease[J].J Clin Invest, 1998, 102 (9) ∶1690-1703.

[13]Ueki I, Kimura A, Nishiyori A, et al.Neonatal cholestatic liver disease in an Asian patient with a homozygous mutation in the oxysterol7alpha-hydroxylase gene[J].J Pediatr Gastroenterol Nutr, 2008, 46 (4) ∶465-469.

[14]Ferdinandusse S, Denis S, Clayton PT, et al.Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy[J].Nat Genet, 2000, 24 (2) ∶188-191.

[15]Setchell KD, Heubi JE, Bove KE, et al.Liver disease caused by failure to racemize trihydroxycholestanoic acid:gene mutation and effect of bile acid therapy[J].Gastroenterology, 2003, 124 (1) ∶217-232.

[16]Gallus GN, Dotti Mt, Federico A.Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1gene[J].Neurol Sci, 2006, 27 (2) ∶143-149.

[17]Keren Z, Falik-Zaccai TC.Cerebrotendinous xanthomatosis (CTX) :a treatable lipid storage disease[J].Pediatr Endocrinol Rev, 2009, 7 (1) ∶6-11.

[18]Bjorkhem I, Hansson M.Cerebrotendinous xanthomatosis:an inborn error in bile acid synthesis with defined mutations but still a challenge[J].Biochem Biophys Res Commun, 2010, 396 (1) ∶46-49.

[19]Clayton PT, Casteels M, Mieli-Vergani G, et al.Familial giant cell hepatitis with low bile acid concentrations and increased urinary excretion of specific bile alcohols:a new inborn error of bile acid synthesis[J].Pediatr Res, 1995, 37 (4) ∶424-431.

[20]Setchell KD, Heubi J, O'Connell NC, et al.Identification of a unique inborn error in bile acid conjugation involving a deficiency in amidation[J].In:Paumgartner G, Stiehl A, Gerok W.eds.Dordrecht/Boston/London:Kluwer Academic Publishers, 1997∶4347.

[21]Hofmann AF, Strandvik B.Defective bile acid amidation:predicted features of a new inborn error of metabolism[J].Lancet, 1988, 2 (8606) ∶311-313.

[22]Hubbard B, Doege H, Punreddy S, et al.Mice deleted for fatty acid transport protein5have defective bile acid conjugation and are protected from obesity[J].Gastroenterology, 2006, 130 (4) ∶1259-1269.

[23]Carlton VE, Harris BZ, Puffenberger EG, et al.Complex inheritance of familial hypercholanemia with associated mutations in TJP2and BAAT[J].Nat Genet, 2003, 34 (1) ∶91-96.

[24]Savolainen K, Kotti TJ, Schmitz W, et al.A mouse model for alpha-methylacyl-CoA racemase deficiency:adjustment of bile acid synthesis and intolerance to dietary methyl-branched lipids[J].Hum Mol Genet, 2004, 13 (9) ∶955-965.

施引文献

资源附件(0)

访问统计