Рецидивирующий холестаз у пациента 16 лет
https://doi.org/10.22416/1382-4376-2016-4-103-115
Об авторах
И. Н. ТихоновРоссия
М. С. Жаркова
Россия
М. В. Маевская
Россия
Ч. С. Павлов
Россия
Т. П. Некрасова
Россия
А. Ф. Шептулина
Россия
В. Т. Ивашкин
Россия
Список литературы
1. 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.
2. Hadzic N., Verkade H.J. The changing spectrum of neonatal hepatitis. J Pediatr Gastroenterol Nutr 2016. - article in press - doi: 10.1097/MPG.00000000000001203.
3. 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.
4. 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.
5. 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.
6. 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.
7. 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.
8. 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.
9. 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.
10. 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.
11. 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.
12. 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.
13. 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.
14. 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.
15. 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.
16. 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.
17. 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.
18. 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.
19. 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.
20. 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.
Рецензия
Для цитирования:
Тихонов И.Н., Жаркова М.С., Маевская М.В., Павлов Ч.С., Некрасова Т.П., Шептулина А.Ф., Ивашкин В.Т. Рецидивирующий холестаз у пациента 16 лет. Российский журнал гастроэнтерологии, гепатологии, колопроктологии. 2016;26(4):103-115. https://doi.org/10.22416/1382-4376-2016-4-103-115
For citation:
Tikhonov I.N., Zharkova M.S., Mayevskaya M.V., Pavlov Ch.S., Nekrasova T.P., Sheptulina A.F., Ivashkin V.T. Recurrent cholestasis in 16 year-old patient (clinical case presentation). Russian Journal of Gastroenterology, Hepatology, Coloproctology. 2016;26(4):103-115. (In Russ.) https://doi.org/10.22416/1382-4376-2016-4-103-115

Контент доступен под лицензией Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.