10 - World Journal of Gastroenterology

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scribed, one presenting with biliary atresia (patient AS) and the other (patient MK) with cystic fibrosis, cholestasis and severe malabsorption. Since one patient with 5β-reductase deficiency had a clinical presentation resembling biliary atresia 5β-reductase deficiency should be considered in the differential diagnosis of biliary atresia [19] . Although liver transplantation is curative for both biliary atresia and 5β-reductase deficiency, it is crucial to define the molecular basis of the diseases in these individuals prior to counselling of the parents regarding recurrence risk in further pregnancies. In our patient AS, mutation analysis of the 5β-reductase gene (AKR1D1) excluded a deficiency in bile acid synthesis leaving biliary atresia as the most likely diagnosis, so that she subsequently underwent successful liver transplantation. In patient MK, the common ΔF508 mutation was detected in the CFTR gene, and this individual experienced a normalization of her urinary cholanoid profile after supplementation with pancreatic enzymes, vitamins and ursodesoxycholic acid. The mechanism underlying the aberrant cholanoid profiles in patients AS and MK is not clear. There may be secondary inhibition of 5β-reductase by an as yet undefined substance occurring in both conditions. Because of the clinical variability associated with atypical presentations, as in the patients described in this article, the availability of a quick and reliable method for determination of bile acid metabolites is essential in the diagnostic work-up. The ESI-MS/MS method described is fast and reliable. However, in some patients cholanoid profiles suggesting 5β-reductase deficiency are obtained. In these cases mutation analysis of the AKR1D1 gene is necessary. If 5β-reductase deficiency is excluded cystic fibrosis or biliary atresia should be considered in the differential diagnosis. ACKNOWLEDGMENTS We thank Davis DL, Treiber DK, and Schmidt KV for their excellent technical assistance and the Department of Human Genetics, DNA-Diagnostics, University Medical Center Nijmegen for mutation analysis of the CYP27A1 gene. COMMENTS Background Bile acid synthesis defects can result in progressive cholestatic liver disease and neurological disease. They can be treated effectively with bile acid supplementation when determined early but result in permanent liver failure requiring liver transplantation or irreversible neurological damage when diagnosed at a late stage. Therefore knowledge of clinical symptoms and early diagnosis are important. Research frontiers Analysis of urinary bile acids by electrospray ionization-tandem mass spectrometry (ESI-MS/MS) is the method of choice to screen for bile acid synthesis defects. However, patients with liver disease of other origin may show similar patterns of bile acid metabolites. Moreover patients with disorders of bile acid synthesis may present with atypical clinical symptoms. WJG|www.wjgnet.com Innovations and breakthroughs In the present study authors analyzed urinary bile acid metabolites in a large number of patients, in whom bile acid synthesis defects were suspected. In patients with abnormal bile acid profiles authors performed complete biochemical and molecular diagnostic workup. The pitfalls of the ESI-MS/MS method were evaluated and differential diagnoses discussed. Applications To expand the knowledge about clinical presentation of bile acid synthesis defects and the differential diagnoses. To be aware of pitfalls of the ESI-MS/MS method and further diagnostic procedures to confirm or exclude defects of bile acid synthesis. Peer review This work is well written. Although the group of patients with bile acid synthesis defects is small, it is important to make the clinical diagnosis. This paper will be particularly interesting for pediatricians. REFERENCES Haas D et al . Bile acid synthesis defects 1 Bove KE, Daugherty CC, Tyson W, Mierau G, Heubi JE, Balistreri WF, Setchell KD. Bile acid synthetic defects and liver disease. Pediatr Dev Pathol 2000; 3: 1-16 2 Clayton PT. Disorders of bile acid synthesis. J Inherit Metab Dis 2011; 34: 593-604 3 Clayton PT, Leonard JV, Lawson AM, Setchell KD, Andersson S, Egestad B, Sjövall J. Familial giant cell hepatitis associated with synthesis of 3 beta, 7 alpha-dihydroxy-and 3 beta,7 alpha, 12 alpha-trihydroxy-5-cholenoic acids. J Clin Invest 1987; 79: 1031-1038 4 Setchell KD, Suchy FJ, Welsh MB, Zimmer-Nechemias L, Heubi J, Balistreri WF. Delta 4-3-oxosteroid 5 beta-reductase deficiency described in identical twins with neonatal hepatitis. A new inborn error in bile acid synthesis. J Clin Invest 1988; 82: 2148-2157 5 Setchell KD, Schwarz M, O’Connell NC, Lund EG, Davis DL, Lathe R, Thompson HR, Weslie Tyson R, Sokol RJ, Russell DW. Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease. J Clin Invest 1998; 102: 1690-1703 6 Pullinger CR, Eng C, Salen G, Shefer S, Batta AK, Erickson SK, Verhagen A, Rivera CR, Mulvihill SJ, Malloy MJ, Kane JP. Human cholesterol 7alpha-hydroxylase (CYP7A1) deficiency has a hypercholesterolemic phenotype. J Clin Invest 2002; 110: 109-117 7 Ferdinandusse S, Overmars H, Denis S, Waterham HR, Wanders RJ, Vreken P. Plasma analysis of di- and trihydroxycholestanoic acid diastereoisomers in peroxisomal alpha-methylacyl-CoA racemase deficiency. J Lipid Res 2001; 42: 137-141 8 Setchell KD, Heubi JE, Bove KE, O’Connell NC, Brewsaugh T, Steinberg SJ, Moser A, Squires RH. Liver disease caused by failure to racemize trihydroxycholestanoic acid: gene mutation and effect of bile acid therapy. Gastroenterology 2003; 124: 217-232 9 Une M, Konishi M, Suzuki Y, Akaboshi S, Yoshii M, Kuramoto T, Fujimura K. Bile acid profiles in a peroxisomal D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency. J Biochem 1997; 122: 655-658 10 Ferdinandusse S, Ylianttila MS, Gloerich J, Koski MK, Oostheim W, Waterham HR, Hiltunen JK, Wanders RJ, Glumoff T. Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis. Am J Hum Genet 2006; 78: 112-124 11 Ferdinandusse S, Kostopoulos P, Denis S, Rusch H, Overmars H, Dillmann U, Reith W, Haas D, Wanders RJ, Duran M, Marziniak M. Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy. Am J Hum Genet 1075 March 14, 2012|Volume 18|Issue 10|
Haas D et al . Bile acid synthesis defects 2006; 78: 1046-1052 12 Niwa T. Mass spectrometry in hepatic diseases. Clin Chim Acta 1995; 241-242: 253-289 13 Scalia S. Bile acid separation. J Chromatogr B Biomed Appl 1995; 671: 299-317 14 Roda A, Piazza F, Baraldini M. Separation techniques for bile salts analysis. J Chromatogr B Biomed Sci Appl 1998; 717: 263-278 15 Setchell KD, Lawson AM, Tanida N, Sjövall J. General methods for the analysis of metabolic profiles of bile acids and related compounds in feces. J Lipid Res 1983; 24: 1085-1100 16 Gan-Schreier H, Okun JG, Kohlmueller D, Langhans CD, Peters V, Ten Brink HJ, Verhoeven NM, Jakobs C, Voelkl A, Hoffmann GF. Measurement of bile acid CoA esters by high-performance liquid chromatography-electrospray ionisation tandem mass spectrometry (HPLC-ESI-MS/MS). J Mass Spectrom 2005; 40: 882-889 17 Buchmann MS, Kvittingen EA, Nazer H, Gunasekaran T, Clayton PT, Sjövall J, Björkhem I. Lack of 3 beta-hydroxydelta 5-C27-steroid dehydrogenase/isomerase in fibroblasts from a child with urinary excretion of 3 beta-hydroxy-delta WJG|www.wjgnet.com 5-bile acids. A new inborn error of metabolism. J Clin Invest 1990; 86: 2034-2037 18 Cheng JB, Jacquemin E, Gerhardt M, Nazer H, Cresteil D, Heubi JE, Setchell KD, Russell DW. Molecular genetics of 3beta-hydroxy-Delta5-C27-steroid oxidoreductase deficiency in 16 patients with loss of bile acid synthesis and liver disease. J Clin Endocrinol Metab 2003; 88: 1833-1841 19 Lemonde HA, Custard EJ, Bouquet J, Duran M, Overmars H, Scambler PJ, Clayton PT. Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy. Gut 2003; 52: 1494-1499 20 Verrips A, Hoefsloot LH, Steenbergen GC, Theelen JP, Wevers RA, Gabreëls FJ, van Engelen BG, van den Heuvel LP. Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis. Brain 2000; 123 (Pt 5): 908-919 21 Berginer VM, Salen G, Shefer S. Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid. N Engl J Med 1984; 311: 1649-1652 22 Clayton PT, Patel E, Lawson AM, Carruthers RA, Tanner MS, Strandvik B, Egestad B, Sjövall J. 3-Oxo-delta 4 bile acids in liver disease. Lancet 1988; 1: 1283-1284 S- Editor Gou SX L- Editor O’Neill M E- Editor Zhang DN 1076 March 14, 2012|Volume 18|Issue 10|
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World Journal of Gastroenterology W
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Phillip S Oates, Perth Ross C Smith
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Deepak N Amarapurkar, Mumbai Abhiji
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Trine Olsen, Tromsø Eyvind J Pauls
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Conor P Delaney, Cleveland Sharon D
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S Contents EDITORIAL ORIGINAL ARTIC
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Contents ACKNOWLEDGMENTS APPENDIX A
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(Table 1). Seven hundred and forty-
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23 Yoon HM, Kim JH, Shin YM, Won HJ
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Online Submissions: http://www.wjgn
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Location known Resection Primary tu
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pathologic classification of neuroe
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Table 1 Diagnosis of definitive and
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Figure 3 Endoscopic retrograde chol
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and high dose (50 IU). The patients
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Page 40: © 2012 Baishideng. All rights rese
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Enzyme-linked immunosorbent assay T
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cer cells was easily observed in hu
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24 Chelouche-Lev D, Miller CP, Tell
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Shen ZW, Cao Z, You KZ, Yang ZX, Xi
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Table 1 Summary of data quality rel
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such as the concentration and relax
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ized by stem cell disorders, multi-
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SUBMISSION OF MANUSCRIPTS Manuscrip
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ic effect of Jianpi Yishen decoctio
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World Journal of Gastroenterology V
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10 - World Journal of Gastroenterology

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