Документ применяется с 1 января 2023 года.

Список литературы

1. Anderson K.E. et al. Recommendations for the diagnosis and treatment of the acute porphyrias//Annals of Internal Medicine. American College of Physicians, 2005. Vol. 142, N 6. P. 439 - 450.

2. Kauppinen R. Porphyrias//Lancet. Lancet, 2005. Vol. 365, N 9455. P. 241 - 252.

3. Yasuda M., Chen B., Desnick R.J. Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes//Molecular Genetics and Metabolism. Academic Press Inc., 2019. Vol. 128, N 3. P. 320 - 331.

4. Pischik E., Kauppinen R. An update of clinical management of acute intermittent porphyria//Appl. Clin. Genet. Dove Medical Press Ltd., 2015. Vol. 8. P. 201 - 214.

5. Pischik E., Kauppinen R. Neurological manifestations of acute intermittent porphyria//Cell Mol Biol. 2009. Vol. 55, N 1. P. 72 - 83.

6. Пустовойт Я.С., Галстян Г.М., Савченко В.Г. Диагностическая роль отдельных синдромов и симптомов в семиотике острых порфирий//Гематология и трансфузиология. 2014. Vol. 3. P. 35 - 39.

7. Pischik E., Kazakov V., Kauppinen R. Is screening for urinary porphobilinogen useful among patients with acute polyneuropathy or encephalopathy?//J. Neurol. J Neurol, 2008. Vol. 255, N 7. P. 974 - 979.

8. Balwani M. et al. Acute hepatic porphyrias: Recommendations for evaluation and long-term management//Hepatology. John Wiley and Sons Inc., 2017. Vol. 66, N 4. P. 1314 - 1322.

9. Stein P. et al. Best practice guidelines on clinical management of acute attacks of porphyria and their complications//Ann. Clin. Biochem. Ann Clin Biochem, 2013. Vol. 50, N 3. P. 217 - 223.

10. Пустовойт Я.С. et al. Российский реестр лекарственных препаратов, применяемых у больных с нарушениями порфиринового обмена//Гематология и трансфузилогия. 2015. Vol. 60, N 3. P. 38 - 43.

11. Goldberg A. ACUTE INTERMITTENT PORPHYRIA: A Study of 50 Cases//QJM An Int. J. Med. Oxford Academic, 1959. Vol. 28, N 2. P. 183 - 209.

12. Stein J.A., Tschudy D.P. Acute intermittent porphyria. A clinical and biochemical study of 46 patients//Med. 1970. Vol. 49, N 1. P. 1 - 16.

13. WALDENSTROM J. NEUROLOGICAL SYMPTOMS CAUSED BY SOCALLED ACUTE PORPHYRIA//Acta Psychiatr. Scand. John Wiley & Sons, Ltd, 1939. Vol. 14, N 1 - 2. P. 375 - 379.

14. Ridley A. The neuropathy of acute intermittent porphyria//Q J Med. 1969. Vol. 38, N 151. P. 307 - 333.

15. Zheng X. et al. Acute intermittent porphyria presenting with seizures and posterior reversible encephalopathy syndrome: Two case reports and a literature review//Med. (United States). Lippincott Williams and Wilkins, 2018. Vol. 97, N 36.

16. Kakoullis L. et al. Porphyrias and photosensitivity: pathophysiology for the clinician//Postgraduate Medicine. Taylor and Francis Inc., 2018. Vol. 130, N 8. P. 673 - 686.

17. 00000007.wmz A. et al. A novel 19-bp deletion of exon 15 in the HMBS gene causing acute intermittent porphyria associating with rhabdomyolysis during an acute attack//Clinical Genetics. Clin Genet, 2008. Vol. 74, N 4. P. 396 - 398.

18. Balwani M. et al. Acute Intermittent Porphyria in children: A case report and review of the literature//Molecular Genetics and Metabolism. Academic Press Inc., 2016. Vol. 119, N 4. P. 295 - 299.

19. Bonkovsky H.L. et al. Acute porphyrias in the USA: Features of 108 subjects from porphyrias consortium//Am. J. Med. Elsevier Inc., 2014. Vol. 127, N 12. P. 1233 - 1241.

20. Hift R.J., Meissner P.N. An analysis of 112 acute porphyric attacks in Cape Town, South Africa: Evidence that acute intermittent porphyria and variegate porphyrio differ in susceptibility and severity//Medicine (Baltimore). Medicine (Baltimore), 2005. Vol. 84, N 1. P. 48 - 60.

21. Woolf J. et al. Best practice guidelines on first-line laboratory testing for porphyria//Annals of Clinical Biochemistry. SAGE Publications Ltd, 2017. Vol. 54, N 2. P. 188 - 198.

22. Mustajoki P., Nordman Y. Early administration of heme arginate for acute porphyric attacks//Arch Intern Med. 1993. Vol. 153, N 17. P. 2004 - 2008.

23. Watson C.J., Schwartz S. A Simple Test for Urinary Porphobilinogen.//Exp. Biol. Med. SAGE PublicationsSage UK: London, England, 1941. Vol. 47, N 2. P. 393 - 394.

24. Kauppinen R., von und zu Frauenberg M. Molecular and biochemical studies of acute intermittent porphyria in 196 patients and their families//Clin Chem. 2002. Vol. 48, N 11. P. 1891 - 1900.

25. Von Und Zu Fraunberg M. et al. Clinical and biochemical characteristics and genotype-phenotype correlation in 143 Finnish and Russian patients with acute intermittent porphyria//Medicine (Baltimore). Medicine (Baltimore), 2005. Vol. 84, N 1. P. 35 - 47.

26. Quansah R. et al. Hepatitis C- and HIV-induced porphyria cutanea tarda//Am. J. Case Rep. International Scientific Information, Inc., 2014. Vol. 15. P. 35 - 40.

27. ROCCHI E. et al. Hepatitis B virus infection in porphyria cutanea tarda//Liver. Liver, 1986. Vol. 6, N 3. P. 153 - 157.

28. Lederhandler M. et al. A case of porphyria cutanea tarda in the setting of hepatitis C infection and tobacco usage//Dermatol. Online J. Dermatology Online Journal, 2019. Vol. 25, N 12. P. 11 - 12.

29. Garcia-Silva J., Velasco-Benito J.A., 00000008.wmz C. Primary syphilis with multiple chancres and porphyria cutanea tarda in an HIV-infected patient//Dermatology. 1994.

30. Tracy J.A., James P., Dyck B. Porphyria and its neurologic manifestations. 2014.

31. 00000009.wmz U., Doss M.O., Schuppan D. Clinical Guide and Update on Porphyrias//Gastroenterology. 2019.

32. Oomman A., Gurtoo A. Acute Intermittent Porphyria as a Cause of Acute Respiratory Failure//J. Indian Med. Assoc. 2002.

33. Watson C.J. et al. Use of hematin in the acute attack of the "inducible" hepatic porphyrias//Adv Intern Med. 1978. Vol. 23. P. 265 - 286.

34. Anderson K.E., Collins S. Open-Label Study of Hemin for Acute Porphyria: Clinical Practice Implications//Am. J. Med. Am J Med, 2006. Vol. 119, N 9.

35. Herrick A.L. et al. CONTROLLED TRIAL OF HAEM ARGINATE IN ACUTE HEPATIC PORPHYRIA//Lancet. Lancet, 1989. Vol. 333, N 8650. P. 1295 - 1297.

36. Tschudy D.P. et al. The effect of carbohydrate feeding on the induction of 00000010.wmz acid synthetase//Metabolism. Metabolism, 1964. Vol. 13, N 5. P. 396 - 406.

37. Handschin C. et al. Nutritional regulation of hepatic heme biosynthesis and porphyria through 00000011.wmz//Cell. Cell, 2005. Vol. 122, N 4. P. 505 - 515.

38. Anderson K.E. Acute hepatic porphyrias: Current diagnosis & management//Molecular Genetics and Metabolism. 2019.

39. Яцков К.В. et al. Интенсивная терапия осложнений острой порфирии//Анестезиология и реаниматология. 2015. Vol. 60. P. 37 - 42.

40. Kauppinen R., Mustajoki P. Prognosis of acute porphyria: occurrence of acute attacks, precipitating factors, and associated diseases//Med. 1992. Vol. 71, N 1. P. 1 - 13.

41. Hift R.J., Thunell S., Brun A. Drugs in porphyria: From observation to a modern algorithm-based system for the prediction of porphyrogenicity//Pharmacology and Therapeutics. Elsevier Inc., 2011. Vol. 132, N 2. P. 158 - 169.

42. Пустовойт Я.С. et al. Дифференцированные подходы к интенсивной терапии больных с тяжелым течением острой порфирии//Анестезиология и реаниматология. 2009. Vol. 2. P. 39 - 45.

43. Супонева Н., Пирадов М.А., Спирин Н.Н. Синдром Гийена-Барре. Клинические рекомендации. Москва: Горячая линия - Телеком, 2018. P. 32.

44. Белкин А.А. et al. Реабилитация в интенсивной терапии//Клинические рекомендации. Анестезиология-реаниматология. Под ред. И.Б. Заболотских, Е.М. Шифмана. 2016. P. 858 - 913.

45. Innala E. et al. Evaluation of gonadotropin-releasing hormone agonist treatment for prevention of menstrual-related attacks in acute porphyria//Acta Obstet. Gynecol. Scand. 2010.

46. Andersson C., Innala E., 00000012.wmz T. Acute intermittent porphyria in women: Clinical expression, use and experience of exogenous sex hormones. A population-based study in northern Sweden//J. Intern. Med. 2003.

47. De Block C.E.M., De Leeuw I.H., Van Gaal L.F. Premenstrual attacks of acute intermittent porphyria: Hormonal and metabolic aspects - A case report//Eur. J. Endocrinol. 1999.

48. Yarra P. et al. Benefits of prophylactic heme therapy in severe acute intermittent porphyria//Mol. Genet. Metab. Reports. Elsevier Inc., 2019. Vol. 19.

49. Naik H. et al. Experiences and concerns of patients with recurrent attacks of acute hepatic porphyria: A qualitative study//Mol. Genet. Metab. Academic Press Inc., 2016. Vol. 119, N 3. P. 278 - 283.

50. Singal A.K. et al. Liver transplantation in the management of porphyria//Hepatology. John Wiley and Sons Inc., 2014. Vol. 60, N 3. P. 1082 - 1089.

51. Badminton M.N., Deybach J.-C. Treatment of an acute attack of porphyria during pregnancy//Eur. J. Neurol. 2006. Vol. 13, N 6. P. 668 - 669.

52. Marsden J.T., Rees D.C. A retrospective analysis of outcome of pregnancy in patients with acute porphyria//J. Inherit. Metab. Dis. J Inherit Metab Dis, 2010. Vol. 33, N 5. P. 591 - 596.

53. Pischik E., Kauppinen R. Can pregnancy stop cyclical attacks of porphyria?//American Journal of Medicine. Elsevier Inc., 2006. Vol. 119, N 1. P. 88 - 90.

54. Mirralles A.M.B., Torres-Castro R., Guzman C.O. A Comprehensive Rehabilitation Program and Follow-up Assessment for Acute Intermittent Porphyria//Am. J. Phys. Med. Rehabil. Lippincott Williams and Wilkins, 2017. Vol. 96, N 5. P. e85 - e88.

55. Innala E., Andersson C. Screening for hepatocellular carcinoma in acute intermittent porphyria: a 15-year follow-up in northern Sweden//J. Intern. Med. John Wiley & Sons, Ltd, 2011. Vol. 269, N 5. P. 538 - 545.

56. Haefeli M., Elfering A. Pain assessment//European Spine Journal. Springer, 2006. Vol. 15, N SUPPL. 1. P. S17.