Successful management of severe intrahepatic cholestasis of pregnancy: report of a first Japanese case
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- 作者：Kenya Kamimura (1)
Hiroyuki Abe (1)
Naomi Kamimura (2)
Masayuki Yamaguchi (2)
Maiko Mamizu (1)
Kanna Ogi (2)
Yoshifumi Takahashi (1)
Ken-ichi Mizuno (1)
Hiroteru Kamimura (1)
Yuji Kobayashi (1)
Manabu Takeuchi (1)
Kunihiko Yoshida (2)
Kyoko Yamada (2)
Takayuki Enomoto (2)
Koichi Takakuwa (3)
Minoru Nomoto (1)
Miki Obata (4)
Yoshinori Katsuragi (4)
Yukio Mishima (4)
Ryo Kominami (4)
Tomoteru Kamimura (5)
Yutaka Aoyagi (1)
1. Division of Gastroenterology and Hepatology ; Graduate School of Medical and Dental Sciences ; Niigata University ; 1-757 Asahimachido-ri ; Chuo-ku ; Niigata ; 951-8510 ; Japan
2. Department of Obstetrics and Gynecology ; Niigata University Medical and Dental Hospital ; 1-754 Asahimachido-ri ; Chuo-ku ; Niigata ; 951-8510 ; Japan
3. General Center for Perinatal ; Maternal and Neonatal Medicine ; Niigata University Hospital of Medical and Dental Sciences ; 1-754 Asahimachido-ri ; Chuo-ku ; Niigata ; 951-8520 ; Japan
4. Department of Molecular Genetics ; Graduate School of Medical and Dental Sciences ; Niigata University ; 1-757 Asahimachido-ri ; Chuo-ku ; Niigata ; 951-8510 ; Japan
5. Department of Gastroenterology and Hepatology ; Saiseikai Niigata Daini Hospital ; 280-7 Teraji ; Nishi-ku ; Niigata ; 950-1104 ; Japan - 关键词：Intrahepatic cholestasis of pregnancy ; Bile acid ; Ursodeoxycholic acid ; Single ; nucleotide polymorphism ; ABCB11 ; ABCB4
- 刊名：BMC Gastroenterology
- 出版年：2014
- 出版时间：December 2014
- 年：2014
- 卷：14
- 期：1
- 全文大小：361 KB
- 参考文献：1. Dixon, PH, Wadsworth, CA, Chambers, J, Donnelly, J, Cooley, S, Buckley, R, Mannino, R, Jarvis, S, Syngelaki, A, Geenes, V, Paul, P, Sothinathan, M, Kubitz, R, Lammert, F, Tribe, RM, Ch鈥檔g, CL, Marschall, HU, Glantz, A, Khan, SA, Nicolaides, K, Whittaker, J, Geary, M, Williamson, C (2014) A comprehensive analysis of common genetic variation around six candidate loci for intrahepatic cholestasis of pregnancy. Am J Gastroenterol 109: pp. 76-84 38/ajg.2013.406" target="_blank" title="It opens in new window">CrossRef
2. Geenes, V, Williamson, C (2009) Intrahepatic cholestasis of pregnancy. World J Gastroenterol 15: pp. 2049-2066 3748/wjg.15.2049" target="_blank" title="It opens in new window">CrossRef
3. Schutt, VA, Minuk, GY (2007) Liver diseases unique to pregnancy. Best Pract Res Clin Gastroenterol 21: pp. 771-792 CrossRef
4. Joshi, D, James, A, Quaglia, A, Westbrook, RH, Heneghan, MA (2010) Liver disease in pregnancy. Lancet 375: pp. 594-605 36(09)61495-1" target="_blank" title="It opens in new window">CrossRef
5. Bacq, Y (2011) Liver diseases unique to pregnancy: a 2010 update. Clin Res Hepatol Gastroenterol 35: pp. 182-193 CrossRef
6. Ahmed, KT, Almashhrawi, AA, Rahman, RN, Hammoud, GM, Ibdah, JA (2013) Liver diseases in pregnancy: diseases unique to pregnancy. World J Gastroenterol 19: pp. 7639-7646 3748/wjg.v19.i43.7639" target="_blank" title="It opens in new window">CrossRef
7. Geenes, V, Chappell, LC, Seed, PT, Steer, PJ, Knight, M, Williamson, C (2014) Association of severe intrahepatic cholestasis of pregnancy with adverse pregnancy outcomes: A prospective population-based case鈥揷ontrol study. Hepatology 59: pp. 1482-1491 CrossRef
8. Marschall, HU, Wikstrom Shemer, E, Ludvigsson, JF, Stephansson, O (2013) Intrahepatic cholestasis of pregnancy and associated hepatobiliary disease: a population-based cohort study. Hepatology 58: pp. 1385-1391 CrossRef
9. Schneider, G, Paus, TC, Kullak-Ublick, GA, Meier, PJ, Wienker, TF, Lang, T, van de Vondel, P, Sauerbruch, T, Reichel, C (2007) Linkage between a new splicing site mutation in the MDR3 alias ABCB4 gene and intrahepatic cholestasis of pregnancy. Hepatology 45: pp. 150-158 CrossRef
10. Floreani, A, Carderi, I, Paternoster, D, Soardo, G, Azzaroli, F, Esposito, W, Montagnani, M, Marchesoni, D, Variola, A, Rosa Rizzotto, E, Braghin, C, Mazzella, G (2008) Hepatobiliary phospholipid transporter ABCB4, MDR3 gene variants in a large cohort of Italian women with intrahepatic cholestasis of pregnancy. Dig Liver Dis 40: pp. 366-370 CrossRef
11. Trauner, M, Fickert, P, Wagner, M (2007) MDR3 (ABCB4) defects: a paradigm for the genetics of adult cholestatic syndromes. Semin Liver Dis 27: pp. 77-98 CrossRef
12. Floreani, A, Carderi, I, Paternoster, D, Soardo, G, Azzaroli, F, Esposito, W, Variola, A, Tommasi, AM, Marchesoni, D, Braghin, C, Mazzella, G (2006) Intrahepatic cholestasis of pregnancy: three novel MDR3 gene mutations. Aliment Pharmacol Ther 23: pp. 1649-1653 365-2036.2006.02869.x" target="_blank" title="It opens in new window">CrossRef
13. Pauli-Magnus, C, Lang, T, Meier, Y, Zodan-Marin, T, Jung, D, Breymann, C, Zimmermann, R, Kenngott, S, Beuers, U, Reichel, C, Kerb, R, Penger, A, Meier, PJ, Kullak-Ublick, GA (2004) Sequence analysis of bile salt export pump (ABCB11) and multidrug resistance p-glycoprotein 3 (ABCB4, MDR3) in patients with intrahepatic cholestasis of pregnancy. Pharmacogenetics 14: pp. 91-102 3" target="_blank" title="It opens in new window">CrossRef
14. Dixon, PH, van Mil, SW, Chambers, J, Strautnieks, S, Thompson, RJ, Lammert, F, Kubitz, R, Keitel, V, Glantz, A, Mattsson, LA, Marschall, HU, Molokhia, M, Moore, GE, Linton, KJ, Williamson, C (2009) Contribution of variant alleles of ABCB11 to susceptibility to intrahepatic cholestasis of pregnancy. Gut 58: pp. 537-544 36/gut.2008.159541" target="_blank" title="It opens in new window">CrossRef
15. Keitel, V, Vogt, C, Haussinger, D, Kubitz, R (2006) Combined mutations of canalicular transporter proteins cause severe intrahepatic cholestasis of pregnancy. Gastroenterology 131: pp. 624-629 3/j.gastro.2006.05.003" target="_blank" title="It opens in new window">CrossRef
16. Kim, SR, Saito, Y, Itoda, M, Maekawa, K, Kawamoto, M, Kamatani, N, Ozawa, S, Sawada, J (2009) Genetic variations of the ABC transporter gene ABCB11 encoding the human bile salt export pump (BSEP) in a Japanese population. Drug Metab Pharmacokinet 24: pp. 277-281 33/dmpk.24.277" target="_blank" title="It opens in new window">CrossRef
17. Lang, T, Haberl, M, Jung, D, Drescher, A, Schlagenhaufer, R, Keil, A, Mornhinweg, E, Stieger, B, Kullak-Ublick, GA, Kerb, R (2006) Genetic variability, haplotype structures, and ethnic diversity of hepatic transporters MDR3 (ABCB4) and bile salt export pump (ABCB11). Drug Metab Dispos 34: pp. 1582-1599 CrossRef
18. Meier, Y, Pauli-Magnus, C, Zanger, UM, Klein, K, Schaeffeler, E, Nussler, AK, Nussler, N, Eichelbaum, M, Meier, PJ, Stieger, B (2006) Interindividual variability of canalicular ATP-binding-cassette (ABC)-transporter expression in human liver. Hepatology 44: pp. 62-74 CrossRef
19. Glantz, A, Reilly, SJ, Benthin, L, Lammert, F, Mattsson, LA, Marschall, HU (2008) Intrahepatic cholestasis of pregnancy: Amelioration of pruritus by UDCA is associated with decreased progesterone disulphates in urine. Hepatology 47: pp. 544-551 CrossRef
20. Chappell, LC, Gurung, V, Seed, PT, Chambers, J, Williamson, C, Thornton, JG (2012) Ursodeoxycholic acid versus placebo, and early term delivery versus expectant management, in women with intrahepatic cholestasis of pregnancy: semifactorial randomised clinical trial. BMJ 344: pp. e3799 36/bmj.e3799" target="_blank" title="It opens in new window">CrossRef
21. Bacq, Y, Sentilhes, L, Reyes, HB, Glantz, A, Kondrackiene, J, Binder, T, Nicastri, PL, Locatelli, A, Floreani, A, Hernandez, I, Di Martino, V (2012) Efficacy of ursodeoxycholic acid in treating intrahepatic cholestasis of pregnancy: a meta-analysis. Gastroenterology 143: pp. 1492-1501 3/j.gastro.2012.08.004" target="_blank" title="It opens in new window">CrossRef
22. The pre-publication history for this paper can be accessed here: 30X/14/160/prepub" class="a-plus-plus">http://www.biomedcentral.com/1471-230X/14/160/prepub - 刊物主题：Gastroenterology; Internal Medicine;
- 出版者：BioMed Central
- ISSN：1471-230X
文摘
Background Intrahepatic cholestasis of pregnancy (ICP) is a cholestasis condition caused by elevated levels of serum bile acids that mainly occurs in the third trimester of pregnancy. Maternal symptoms include pruritus; elevation of transaminases, biliary enzymes, and bilirubin levels; and abnormal liver function tests. Fetal symptoms include spontaneous preterm labor, fetal distress, and intrauterine death. It is more prevalent in the Caucasians and is rarely found in Asian countries, including Japan. The etiology of ICP has been reported as involving various factors such as, environmental factors, hormone balance, and genetic components. The genetic factors include single-nucleotide polymorphisms (SNPs) in the genes of canalicular transporters, including ABCB4 and ABCB11. It has also been reported that the combination of these SNPs induces severe cholestasis and liver dysfunction. Case presentation Here, we report for the first time a 24-year Japanese case of severe ICP diagnosed by typical symptoms, serum biochemical analysis, and treated with the administration of ursodeoxycholic acid which improved cholestasis and liver injury and prevented fetal death. The sequence analysis showed SNPs reported their association with ICP in the ABCB11 (rs2287622, V444A) and ABCB4 (rs1202283, N168N) loci. Conclusion The risk of ICP has been reported to be population-specific, and it is rare in the Japanese population. Our case was successfully treated with ursodeoxycholic acid and the genetic sequence analysis has supported the diagnosis. Because genetic variation in ABCB4 and ABCB11 has also been reported in the Japanese population, we need to be aware of potential ICP cases in pregnant Japanese women although further studies are necessary.