<?xml version="1.0" encoding="UTF-8"?>
<!DOCTYPE article PUBLIC "-//NLM//DTD JATS (Z39.96) Journal Publishing DTD v1.3 20210610//EN" "JATS-journalpublishing1-3.dtd">
<article article-type="research-article" dtd-version="1.3" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xml:lang="ru"><front><journal-meta><journal-id journal-id-type="publisher-id">gastro-j</journal-id><journal-title-group><journal-title xml:lang="ru">Российский журнал гастроэнтерологии, гепатологии, колопроктологии</journal-title><trans-title-group xml:lang="en"><trans-title>Russian Journal of Gastroenterology, Hepatology, Coloproctology</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">1382-4376</issn><issn pub-type="epub">2658-6673</issn><publisher><publisher-name>«Gastro» LLC</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.22416/1382-4376-2016-4-103-115</article-id><article-id custom-type="elpub" pub-id-type="custom">gastro-j-74</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="ru"><subject>КЛИНИЧЕСКИЙ РАЗБОР</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>CLINICAL ANALYSIS</subject></subj-group></article-categories><title-group><article-title>Рецидивирующий холестаз у пациента 16 лет</article-title><trans-title-group xml:lang="en"><trans-title>Recurrent cholestasis in 16 year-old patient (clinical case presentation)</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Тихонов</surname><given-names>И. Н.</given-names></name><name name-style="western" xml:lang="en"><surname>Tikhonov</surname><given-names>I. N.</given-names></name></name-alternatives><email xlink:type="simple">antihbs@gmail.com</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Жаркова</surname><given-names>М. С.</given-names></name><name name-style="western" xml:lang="en"><surname>Zharkova</surname><given-names>M. S.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Маевская</surname><given-names>М. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Mayevskaya</surname><given-names>M. V.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Павлов</surname><given-names>Ч. С.</given-names></name><name name-style="western" xml:lang="en"><surname>Pavlov</surname><given-names>Ch. S.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Некрасова</surname><given-names>Т. П.</given-names></name><name name-style="western" xml:lang="en"><surname>Nekrasova</surname><given-names>T. P.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Шептулина</surname><given-names>А. Ф.</given-names></name><name name-style="western" xml:lang="en"><surname>Sheptulina</surname><given-names>A. F.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Ивашкин</surname><given-names>В. Т.</given-names></name><name name-style="western" xml:lang="en"><surname>Ivashkin</surname><given-names>V. T.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-1"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>ФГБОУ ВО «Первый Московский государственный медицинский университет им. И.М. Сеченова»</institution><country>Россия</country></aff><aff xml:lang="en"><institution>State educational government-financed institution of higher professional education «Sechenov First Moscow state medical university»</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2016</year></pub-date><pub-date pub-type="epub"><day>12</day><month>08</month><year>2018</year></pub-date><volume>26</volume><issue>4</issue><fpage>103</fpage><lpage>115</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Тихонов И.Н., Жаркова М.С., Маевская М.В., Павлов Ч.С., Некрасова Т.П., Шептулина А.Ф., Ивашкин В.Т., 2018</copyright-statement><copyright-year>2018</copyright-year><copyright-holder xml:lang="ru">Тихонов И.Н., Жаркова М.С., Маевская М.В., Павлов Ч.С., Некрасова Т.П., Шептулина А.Ф., Ивашкин В.Т.</copyright-holder><copyright-holder xml:lang="en">Tikhonov I.N., Zharkova M.S., Mayevskaya M.V., Pavlov C.S., Nekrasova T.P., Sheptulina A.F., Ivashkin V.T.</copyright-holder><license xml:lang="ru" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>Данная работа распространяется под лицензией Creative Commons Attribution 4.0.</license-p></license><license xml:lang="en" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>This work is licensed under a Creative Commons Attribution 4.0 License.</license-p></license></permissions><self-uri xlink:href="https://www.gastro-j.ru/jour/article/view/74">https://www.gastro-j.ru/jour/article/view/74</self-uri></article-meta></front><back><ref-list><title>References</title><ref id="cit1"><label>1</label><citation-alternatives><mixed-citation xml:lang="ru">Knisely A.S., Strautnieks S.S., Meier Y., Stieger B., Byrne J.A. et al. Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency. Hepatology 2006; 44(2):478-86.</mixed-citation><mixed-citation xml:lang="en">Knisely A.S., Strautnieks S.S., Meier Y., Stieger B., Byrne J.A. et al. Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency. Hepatology 2006; 44(2):478-86.</mixed-citation></citation-alternatives></ref><ref id="cit2"><label>2</label><citation-alternatives><mixed-citation xml:lang="ru">Hadzic N., Verkade H.J. The changing spectrum of neonatal hepatitis. J Pediatr Gastroenterol Nutr 2016. - article in press - doi: 10.1097/MPG.00000000000001203.</mixed-citation><mixed-citation xml:lang="en">Hadzic N., Verkade H.J. The changing spectrum of neonatal hepatitis. J Pediatr Gastroenterol Nutr 2016. - article in press - doi: 10.1097/MPG.00000000000001203.</mixed-citation></citation-alternatives></ref><ref id="cit3"><label>3</label><citation-alternatives><mixed-citation xml:lang="ru">Ивашкин В.Т., Широкова Е.Н., Маевская М.В., Павлов Ч.С., Шифрин О.С., Маев И.В., Трухманов А.С. Клинические рекомендации Российской гастроэнтерологической ассоциации и Российского общества по изучению печени по диагностике и лечению холестаза. Рос жур гастроэнтерол гепатол колопроктол 2015; 25(20):41-57.</mixed-citation><mixed-citation xml:lang="en">Ивашкин В.Т., Широкова Е.Н., Маевская М.В., Павлов Ч.С., Шифрин О.С., Маев И.В., Трухманов А.С. Клинические рекомендации Российской гастроэнтерологической ассоциации и Российского общества по изучению печени по диагностике и лечению холестаза. Рос жур гастроэнтерол гепатол колопроктол 2015; 25(20):41-57.</mixed-citation></citation-alternatives></ref><ref id="cit4"><label>4</label><citation-alternatives><mixed-citation xml:lang="ru">Lykavieris P., van Mil S., Cresteil D., Fabre M., Hadchouel M., Klomp L. et al. Progressive familial intrahepatic cholestasis type 1 and extrahepatic features: no catch-up of stature growth, exacerbation of diarrhea, and appearance of liver steatosis after liver transplantation. J Hepatol 2003; 39: 447-52.</mixed-citation><mixed-citation xml:lang="en">Lykavieris P., van Mil S., Cresteil D., Fabre M., Hadchouel M., Klomp L. et al. Progressive familial intrahepatic cholestasis type 1 and extrahepatic features: no catch-up of stature growth, exacerbation of diarrhea, and appearance of liver steatosis after liver transplantation. J Hepatol 2003; 39: 447-52.</mixed-citation></citation-alternatives></ref><ref id="cit5"><label>5</label><citation-alternatives><mixed-citation xml:lang="ru">Müllenbach R., Bennett A., Tellow N., Patel N., Hamilton G. et al. ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy. Gut 2005;54(6):829-34.</mixed-citation><mixed-citation xml:lang="en">Müllenbach R., Bennett A., Tellow N., Patel N., Hamilton G. et al. ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy. Gut 2005;54(6):829-34.</mixed-citation></citation-alternatives></ref><ref id="cit6"><label>6</label><citation-alternatives><mixed-citation xml:lang="ru">Painter J.N., Savander M., Ropponen A., Nupponen N., Riikonen S. et al. Sequence variation in the ATP8B1 gene and intrahepatic cholestasis of pregnancy. Eur J Hum Genet 2005; 13(4):435-9.</mixed-citation><mixed-citation xml:lang="en">Painter J.N., Savander M., Ropponen A., Nupponen N., Riikonen S. et al. Sequence variation in the ATP8B1 gene and intrahepatic cholestasis of pregnancy. Eur J Hum Genet 2005; 13(4):435-9.</mixed-citation></citation-alternatives></ref><ref id="cit7"><label>7</label><citation-alternatives><mixed-citation xml:lang="ru">Pawlokovska L., Groen A., Eppens E.F., Kunne C., Ottenhoff R. et al. A mouse genetic model for familial cholestasis caused by ATP8B1 mutations reveals perturbed bile salt homeostasis but no impairment in bile secretion. Hum Mol Genet 2004; 13(8):881-92.</mixed-citation><mixed-citation xml:lang="en">Pawlokovska L., Groen A., Eppens E.F., Kunne C., Ottenhoff R. et al. A mouse genetic model for familial cholestasis caused by ATP8B1 mutations reveals perturbed bile salt homeostasis but no impairment in bile secretion. Hum Mol Genet 2004; 13(8):881-92.</mixed-citation></citation-alternatives></ref><ref id="cit8"><label>8</label><citation-alternatives><mixed-citation xml:lang="ru">Ray N.B., Durairaj L., Chen B.B., McVerry B.J., Ryan A.J. et al. Dynamic regulation of cardiolipin by the lipid pump Atp8b1 determines the severity of lung injury in experimental pneumonia. Nat Met 2010;16(10):1120-7.</mixed-citation><mixed-citation xml:lang="en">Ray N.B., Durairaj L., Chen B.B., McVerry B.J., Ryan A.J. et al. Dynamic regulation of cardiolipin by the lipid pump Atp8b1 determines the severity of lung injury in experimental pneumonia. Nat Met 2010;16(10):1120-7.</mixed-citation></citation-alternatives></ref><ref id="cit9"><label>9</label><citation-alternatives><mixed-citation xml:lang="ru">Cai S.Y., Gautman S., Nguyen T., Soroka C.J., Rahner C., Boyer J.L. ATP8B1 deficiency disrupts the bile canalicular membrane bilayer structure in hepatocytes, but FXR expression and acivity are maintained. Gastroenterology 2009; 136(3):1060-9.</mixed-citation><mixed-citation xml:lang="en">Cai S.Y., Gautman S., Nguyen T., Soroka C.J., Rahner C., Boyer J.L. ATP8B1 deficiency disrupts the bile canalicular membrane bilayer structure in hepatocytes, but FXR expression and acivity are maintained. Gastroenterology 2009; 136(3):1060-9.</mixed-citation></citation-alternatives></ref><ref id="cit10"><label>10</label><citation-alternatives><mixed-citation xml:lang="ru">Klomp L.W.J., Vargas J.C., van Mil S.W.C., Pawlikowska L., Strautnieks S.S. et al. Characterisation of mutations in ATP8B1 gene associated with hereditary cholestasis. Hepatology 2004; 40:27-38.</mixed-citation><mixed-citation xml:lang="en">Klomp L.W.J., Vargas J.C., van Mil S.W.C., Pawlikowska L., Strautnieks S.S. et al. Characterisation of mutations in ATP8B1 gene associated with hereditary cholestasis. Hepatology 2004; 40:27-38.</mixed-citation></citation-alternatives></ref><ref id="cit11"><label>11</label><citation-alternatives><mixed-citation xml:lang="ru">Alvarez L., Jara P., Sanchéz-Sabaté E., Hierro L., Larrauri J. et al. Reduced hepatic expression of farnesoid X receptor in hereditary cholestasis associated to mutation in ATP8B1. Hum Mol Genet 2004; 13(20):2451-60.</mixed-citation><mixed-citation xml:lang="en">Alvarez L., Jara P., Sanchéz-Sabaté E., Hierro L., Larrauri J. et al. Reduced hepatic expression of farnesoid X receptor in hereditary cholestasis associated to mutation in ATP8B1. Hum Mol Genet 2004; 13(20):2451-60.</mixed-citation></citation-alternatives></ref><ref id="cit12"><label>12</label><citation-alternatives><mixed-citation xml:lang="ru">Shapiro R., Anikster Y., Yardeni T., Korem S., Hartman K. et al. DHPLC screening for mutations in progressive familial intrahepatic cholestasis. J Hum Genet 2010; 55:308-13.</mixed-citation><mixed-citation xml:lang="en">Shapiro R., Anikster Y., Yardeni T., Korem S., Hartman K. et al. DHPLC screening for mutations in progressive familial intrahepatic cholestasis. J Hum Genet 2010; 55:308-13.</mixed-citation></citation-alternatives></ref><ref id="cit13"><label>13</label><citation-alternatives><mixed-citation xml:lang="ru">Oelkers P., Kirby L.C., Heubi J.E., Dawson P.A. Primary bile acid malabsorption caused by mutations in the ileal sodium-dependent bile acid transporter gene (SLC10A2). J Clin Invest 1997; 99(8):1880-7.</mixed-citation><mixed-citation xml:lang="en">Oelkers P., Kirby L.C., Heubi J.E., Dawson P.A. Primary bile acid malabsorption caused by mutations in the ileal sodium-dependent bile acid transporter gene (SLC10A2). J Clin Invest 1997; 99(8):1880-7.</mixed-citation></citation-alternatives></ref><ref id="cit14"><label>14</label><citation-alternatives><mixed-citation xml:lang="ru">Alonso E.M., Snover D.C., Montag A., Freese D.K., Whitington P.F. Histologic pathology of the liver in progressive familial intrahepatic cholestasis. J Pediatr Gastroenterol Nutr 1994;18(2):128-33.</mixed-citation><mixed-citation xml:lang="en">Alonso E.M., Snover D.C., Montag A., Freese D.K., Whitington P.F. Histologic pathology of the liver in progressive familial intrahepatic cholestasis. J Pediatr Gastroenterol Nutr 1994;18(2):128-33.</mixed-citation></citation-alternatives></ref><ref id="cit15"><label>15</label><citation-alternatives><mixed-citation xml:lang="ru">Jansen P.L., Strautnieks S.S., Jacquemin E., Hadchouel M., Sokal E.M. et al. Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis. Gastrroenterology 1999; 117(6):1370-9.</mixed-citation><mixed-citation xml:lang="en">Jansen P.L., Strautnieks S.S., Jacquemin E., Hadchouel M., Sokal E.M. et al. Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis. Gastrroenterology 1999; 117(6):1370-9.</mixed-citation></citation-alternatives></ref><ref id="cit16"><label>16</label><citation-alternatives><mixed-citation xml:lang="ru">Uegaki S., Tanaka A., Mori Y., Kodama H., Fukusato T., Takikawa H. Successful treatment with colestimide for a bout of cholestasis in a Japanese patient with benign recurrent intrahepatic cholestasis caused by ATP8B1 mutation. Inter Med 2008; 47:599-608.</mixed-citation><mixed-citation xml:lang="en">Uegaki S., Tanaka A., Mori Y., Kodama H., Fukusato T., Takikawa H. Successful treatment with colestimide for a bout of cholestasis in a Japanese patient with benign recurrent intrahepatic cholestasis caused by ATP8B1 mutation. Inter Med 2008; 47:599-608.</mixed-citation></citation-alternatives></ref><ref id="cit17"><label>17</label><citation-alternatives><mixed-citation xml:lang="ru">Ismail H., Kaliciński P., Markiewicz M., Jankowska I., Pawlowska J., Kluge P., Eliadou E. et al. Treatment of progressive familial intrahepatic cholestasis: liver transplantation or partial external biliary diversion. Pediatr Transpl 1999; 3(3):219-24.</mixed-citation><mixed-citation xml:lang="en">Ismail H., Kaliciński P., Markiewicz M., Jankowska I., Pawlowska J., Kluge P., Eliadou E. et al. Treatment of progressive familial intrahepatic cholestasis: liver transplantation or partial external biliary diversion. Pediatr Transpl 1999; 3(3):219-24.</mixed-citation></citation-alternatives></ref><ref id="cit18"><label>18</label><citation-alternatives><mixed-citation xml:lang="ru">Kalicinski P.J., Ismail H., Jankowska I., Kaminski A., Pawlowska J., Drewniak T. Surgical treatment of progressive familial intrahepatic cholestasis: comparison of partial external biliary diversion and ileal bypass. Eur J Pediatr Surg 2003;13(5): 307-11.</mixed-citation><mixed-citation xml:lang="en">Kalicinski P.J., Ismail H., Jankowska I., Kaminski A., Pawlowska J., Drewniak T. Surgical treatment of progressive familial intrahepatic cholestasis: comparison of partial external biliary diversion and ileal bypass. Eur J Pediatr Surg 2003;13(5): 307-11.</mixed-citation></citation-alternatives></ref><ref id="cit19"><label>19</label><citation-alternatives><mixed-citation xml:lang="ru">Gunaydin M., Tander B., Demirel D., Caltepe G., Kalayci A.G., Eren E. et al. Different techniques for biliary diversion in progressive familial intrahepatic cholestasis. J Pediatr Surg 2016; 51(3):386-9.</mixed-citation><mixed-citation xml:lang="en">Gunaydin M., Tander B., Demirel D., Caltepe G., Kalayci A.G., Eren E. et al. Different techniques for biliary diversion in progressive familial intrahepatic cholestasis. J Pediatr Surg 2016; 51(3):386-9.</mixed-citation></citation-alternatives></ref><ref id="cit20"><label>20</label><citation-alternatives><mixed-citation xml:lang="ru">Ivashkin V., Tikhonov I., Maevskaya M., Pavlov C., Ondos S.A., Sheptulina A., Nekrasova T. A novel mutation of ATP8B1 gene in young patient with familial intrahepatic cholestasis. Hepatol Int 2016; 10 (Suppl 1): S1-S506.</mixed-citation><mixed-citation xml:lang="en">Ivashkin V., Tikhonov I., Maevskaya M., Pavlov C., Ondos S.A., Sheptulina A., Nekrasova T. A novel mutation of ATP8B1 gene in young patient with familial intrahepatic cholestasis. Hepatol Int 2016; 10 (Suppl 1): S1-S506.</mixed-citation></citation-alternatives></ref></ref-list><fn-group><fn fn-type="conflict"><p>The authors declare that there are no conflicts of interest present.</p></fn></fn-group></back></article>
