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Другие нарушения накопления липидов (Дефицит лизосомой кислой липазы)

Список литературы

  1. Valayannopoulos V, Mengel E, Brassier A, Grabowski G. Lysosomal acid lipase deficiency: Expanding differential diagnosis. Mol Genet Metab. 2017;120(1-2):62-66. doi: 10.1016/j.ymgme.2016.11.002
  2. Bernstein DL, Hülkova H, Bialer MG, Desnick RJ. Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. J Hepatol. 2013;58(6):1230-1243. doi: 10.1016/j.jhep.2013.02.014
  3. Grabowski GA, Charnas L, Du H. Lysosomal acid lipase deficiencies: the Wolman disease/cholesteryl ester storage disease spectrum. In: Scriver Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A,editors. Metabolic and molecular bases of inherited disease – OMMBID. New York: McGraw-Hill; 2014
  4. Fouchier SW, Defesche JC. Lysosomal acid lipase A and the hypercholesterolaemic phenotype. Curr Opin Lipidol. 2013;24(4):332-338. doi:10.1097/MOL.0b013e328361f6c6
  5. Pericleous M, Kelly C, Wang T, Livingstone C, Ala A. Wolman"s disease and cholesteryl ester storage disorder: the phenotypic spectrum of lysosomal acid lipase deficiency. Lancet Gastroenterol Hepatol. 2017;2(9):670-679. doi:10.1016/S2468-1253(17)30052-3
  6. Santos Silva E, Klaudel-Dreszler M, Bakuła A, et al. Early onset lysosomal acid lipase deficiency presenting as secondary hemophagocytic lymphohistiocytosis: Two infants treated with sebelipase alfa. Clin Res Hepatol Gastroenterol. 2018;42(5):e77-e82. doi:10.1016/j.clinre.2018.03.012
  7. Sadhukhan M, Saha A, Vara R, Bhaduri B. Infant case of lysosomal acid lipase deficiency: Wolman"s disease. BMJ Case Rep. 2014;2014:bcr2013202652. Published 2014 May 15. doi:10.1136/bcr-2013-202652
  8. Каменец Е.А., Печатникова Н.Л., Какаулина В.С., Михайлова С.В., Строкова Т.В., Жаркова М.С., Потехин О.Е., Захарова Е.Ю. Дефицит лизосомной кислой липазы у российских больных: молекулярная характеристика и эпидемиология. Медицинская генетика. 2019;18(8):3-16.
  9. Дегтярева А.В., Пучкова А.А., Жданова С.И., Дегтярев Д.Н. Болезнь Вольмана - тяжелая младенческая форма дефицита лизосомной кислой липазы // Неонатология: новости, мнения, обучение. 2019. Т. 7. № 2. С. 42-51.
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  15. Hoffman EP, Barr ML, Giovanni MA, et al. Lysosomal Acid Lipase Deficiency. 2015 Jul 30 [Updated 2016 Sep 1]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK305870/
  16. Quinn AG, Burton B, Deegan P et al. Sustained elevations in LDL cholesterol and serum transaminases from early childhood are common in lysosomal acid lipase deficiency. Mol Genet Metab 2014;111:S89
  17. Hamilton J, Jones I, Srivastava R, Galloway P. A new method for the measurement of lysosomal acid lipase in dried blood spots using the inhibitor Lalistat 2. Clin Chim Acta. 2012;413(15-16):1207-1210. doi: 10.1016/j.cca.2012.03.019
  18. Lukacs Z, Barr M, Hamilton J. Best practice in the measurement and interpretation of lysosomal acid lipase in dried blood spots using the inhibitor Lalistat 2. Clin Chim Acta. 2017; 471:201-205. doi: 10.1016/j.cca.2017.05.027
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  20. Strebinger G, Müller E, Feldman A, Aigner E. Lysosomal acid lipase deficiency - early diagnosis is the key. Hepat Med. 2019;11:79-88. Published 2019 May 23. doi:10.2147/HMER.S201630
  21. Jones SA, Rojas-Caro S, Quinn AG, et al. Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study. Orphanet J Rare Dis. 2017;12(1):25. Published 2017 Feb 8. doi:10.1186/s13023-017-0587-3
  22. Burton BK, Balwani M, Feillet F, et al. A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency. N Engl J Med. 2015;373(11):1010-1020. doi:10.1056/NEJMoa1501365
  23. Abel F., Arnoux J.B., Kostyleva M. et al. Benefit of Sebelipase Alfa in Children and Adults With Lysosomal Acid Lipase Deficiency Based on Analysis of Efficacy Overall and by Baseline Alanine Aminotransferase Level // J. of Hepatology. Vol. 64 (2). P.298–299.
  24. Su K, Donaldson E, Sharma R. Novel treatment options for lysosomal acid lipase deficiency: critical appraisal of sebelipase alfa. Appl Clin Genet. 2016;9:157-167. Published 2016 Oct 17. doi:10.2147/TACG.S86760
  25. Valayannopoulos V, Malinova V, Honzík T, et al. Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency. J Hepatol. 2014;61(5):1135-1142. doi: 10.1016/j.jhep.2014.06.022
  26. Maciejko JJ. Managing Cardiovascular Risk in Lysosomal Acid Lipase Deficiency [published correction appears in Am J Cardiovasc Drugs. 2017 Jun;17 (3):233]. Am J Cardiovasc Drugs. 2017;17(3):217-231. doi:10.1007/s40256-017-0216-5
  27. В.Е.Новиков, Е.И.Климкина// Фармакология гепатопротекторов// Обз. клин.фармакол. лек.тер.-2005-Т.4- №1.-с.2-20.
  28. Строкова Т.В., Багаева М.Э., Матинян И.А. Дефицит лизосомной кислой липазы РМЖ . 2017. 25(19):1346-1351
  29. Лаврова А.Е., Коновалова Е.Ю., Давыдова Д.А., Шеляхин В.Е.,Лобанова Е.В. Дефицит лизосомной кислой липазы у ребенка 5 лет Педиатрия. Журнал им. Г.Н. Сперанского. 2017. Т. 96. № 6. С. 183-186.
  30. Kale AS, Ferry GD, Hawkins EP. End-stage renal disease in a patient with cholesteryl ester storage disease following successful liver transplantation and cyclosporine immunosuppression. J Pediatr Gastroenterol Nutr. 1995;20(1):95-97. doi:10.1097/00005176-199501000-00016
  31. Ambler GK, Hoare M, Brais R, et al. Orthotopic liver transplantation in an adult with cholesterol ester storage disease. JIMD Rep. 2013; 8:41-46. doi:10.1007/8904_2012_155
  32. Bernstein DL, Lobritto S, Iuga A, et al. Lysosomal acid lipase deficiency allograft recurrence and liver failure- clinical outcomes of 18 liver transplantation patients. Mol Genet Metab. 2018;124(1):11-19. doi: 10.1016/j.ymgme.2018.03.010
  33. Gramatges MM, Dvorak CC, Regula DP, Enns GM, Weinberg K, Agarwal R. Pathological evidence of Wolman"s disease following hematopoietic stem cell transplantation despite correction of lysosomal acid lipase activity. Bone Marrow Transplant. 2009;44(7):449-450. doi:10.1038/bmt.2009.57
  34. Stein J, Garty BZ, Dror Y, Fenig E, Zeigler M, Yaniv I. Successful treatment of Wolman disease by unrelated umbilical cord blood transplantation. Eur J Pediatr. 2007;166(7):663-666. doi:10.1007/s00431-006-0298-6
  35. Tolar J, Petryk A, Khan K, et al. Long-term metabolic, endocrine, and neuropsychological outcome of hematopoietic cell transplantation for Wolman disease. Bone Marrow Transplant. 2009;43(1):21-27. doi:10.1038/bmt.2008.273
  36. Yanir A, Allatif MA, Weintraub M, Stepensky P. Unfavorable outcome of hematopoietic stem cell transplantation in two siblings with Wolman disease due to graft failure and hepatic complications. Mol Genet Metab. 2013;109(2):224-226. doi: 10.1016/j.ymgme.2013.03.007
  37. Cohen JL, Burfield J, Valdez-Gonzalez K, et al. Early diagnosis of infantile-onset lysosomal acid lipase deficiency in the advent of available enzyme replacement therapy. Orphanet J Rare Dis. 2019;14(1):198. Published 2019 Aug 14. doi:10.1186/s13023-019-1129-y
  38. Kohli R, Ratziu V, Fiel MI, Waldmann E, Wilson DP, Balwani M. Initial assessment and ongoing monitoring of lysosomal acid lipase deficiency in children and adults: Consensus recommendations from an international collaborative working group. Mol Genet Metab. 2020;129(2):59-66. doi: 10.1016/j.ymgme.2019.11.004
  39. Harrison SA. Management of Lysosomal Acid Lipase Deficiency for the Gastroenterologist and Hepatologist. Gastroenterol Hepatol (N Y). 2016;12(5):331-333.
  40. Dixon DB. Non-Invasive Techniques in Pediatric Dyslipidemia. In: Feingold KR, Anawalt B, Boyce A, et al., eds. Endotext. South Dartmouth (MA): MDText.com, Inc.; September 8, 2020.
  41. Zharkova M, Nekrasova T, Ivashkin V, Maevskaya M, Strokova T. Fatty Liver and Systemic Atherosclerosis in a Young, Lean Patient: Rule Out Lysosomal Acid Lipase Deficiency. Case Rep Gastroenterol. 2019;13(3):498-507. Published 2019 Dec 4. doi:10.1159/000504646
  42. Erwin AL. The role of sebelipase alfa in the treatment of lysosomal acid lipase deficiency. Therap Adv Gastroenterol. 2017;10(7):553-562. doi:10.1177/1756283X17705775
  43. Jones S.A., AlSayed M., Broomfield A.A. et al. Management guidelines for infantile onset lysosomal acid lipase deficiency (LALD). Mol. Genet. Metab. 2018;123(2):S72–S73
  44. Pastores GM, Hughes DA. Lysosomal Acid Lipase Deficiency: Therapeutic Options. Drug Des Devel Ther. 2020;14:591-601. Published 2020 Feb 11. doi:10.2147/DDDT.S149264
  45. Al Essa M, Nounou R, Sakati N, et al. Wolman"s disease: The King Faisal Specialist Hospital and Research Centre experience. Ann Saudi Med. 1998;18(2):120-124. doi:10.5144/0256-4947.1998.120
  46. Witeck CDR, Schmitz AC, de Oliveira JMD, Porporatti AL, De Luca Canto G, Pires MMS. Lysosomal acid lipase deficiency in pediatric patients: a scoping review. J Pediatr (Rio J). 2022 Jan-Feb;98(1):4-14. doi: 10.1016/j.jped.2021.03.003.
  47. Malinová V, Balwani M, Sharma R, et al. Sebelipase alfa for lysosomal acid lipase deficiency: 5-year treatment experience from a phase 2 open-label extension study. Liver Int. 2020;40(9):2203-2214. doi:10.1111/liv.14603
  48. Attachment 2 KANUMA - Sebelipase - Alexion Pharmaceuticals Australia Pty Ltd - PM-2016-01313-1-3 -Extract from the CER FINAL 14 June 2018
  49. Клиническая лабораторная диагностика заболеваний печени и желчевыводящих путей: руководство для врачей / А.И. Карпищенко и др. под ред. А.И. Карпищенко. – М.: ГЭОТАР-Медиа, 2020. – 464 c

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