Клинический случай острой перемежающейся порфирии у пациента 9 лет

В статье описан случай дебюта острой перемежающейся порфирии у пациента препубертатного возраста. Приве- денное клиническое наблюдение иллюстрирует сложность диагностики данного заболевания, обусловленную разно- образием и неспецифичностью его симптомов. Подчеркнута необходимость включения острых порфирий в круг дифференциально-диагностического поиска у пациентов с абдоминальным болевым синдромом, необъяснимым более распространенными причинами, особенно в тех случаях, когда интенсивная боль в животе сочетается с психо- неврологической симптоматикой и изменениями окраски мочи.

дети, острая перемежающаяся порфирия, абдоминальный болевой синдром, психоневрологическая симптоматика, диагностика, children, acute intermittent porphyria, abdominal pain, psychoneurological symptoms, diagnosis

1. James MF, Hift RJ. Porphyrias. Br J Anaesth. 2000;85(1):143-53

2. Puy H, Gouya L, Deybach JC. Porphyrias. Lancet. 2010;375(9718):924-37

3. Siegesmund M, van Tuyll van Serooskerken AM, Poblete-Gutiérrez P, Frank J. The acute hepatic porphyrias: current status and future challenges. Best Pract Res Clin Gastroenterol. 2010;24(5):593-605

4. Stein P, Badminton M, Barth J, Rees D, Stewart MF; British and Irish Porphyria Network. Best practice guidelines on clinical management of acute attacks of porphyria and their complications. Ann Clin Biochem. 2013;50(3):217-23

5. Ventura P, Cappellini MD, Rocchi E. The acute porphyrias: a diagnostic and therapeutic challenge in internal and emergency medicine. Intern Emerg Med. 2009;4(4):297-308

6. García-Diz L, Murcia MA, Gris JL, Pons A, Monteagudo C, Martínez-Tomé M, et al. Assessing nutritional status of acute intermittent porphyria patients. Eur J Clin Invest. 2012;42(9):943-52

7. Herrick AL, McColl KE. Acute intermittent porphyria. Best Pract Res Clin Gastroenterol. 2005;19(2):235-49

8. Marsden JT, Rees DC. Urinary excretion of porphyrins, porphobilinogen and -aminolaevulinic acid following an attack of acute intermittent porphyria. J Clin Pathol. 2014;67(1):60-5

9. Lin CS, Lee MJ, Park SB, Kiernan MC. Purple pigments: the pathophysiology of acute porphyric neuropathy. Clin Neurophysiol. 2011;122(12):2336-44

10. Sonderup MW, Hift RJ. The neurological manifestations of the acute porphyrias. S Afr Med J. 2014;104(4):285-6

11. Anyaegbu E, Goodman M, Ahn SY, Thangarajh M, Wong M, Shinawi M. Acute intermittent porphyria: a diagnostic challenge. J Child Neurol. 2012;27(7):917-21

12. Hultdin J, Schmauch A, Wikberg A, Dahlquist G, Andersson C. Acute intermittent porphyria in childhood: a population-based study. Acta Paediatr. 2003;92(5): 562-8

13. Andersson C, Wikberg A, Stegmayr B, Lithner F. Renal symptomatology in patients with acute intermittent porphyria. A population-based study. J Intern Med. 2000;248(4):319-25

14. Stewart MF. Review of hepatocellular cancer, hypertension and renal impairment as late complications of acute porphyria and recommendations for patient follow- up. J Clin Pathol. 2012;65(11):976-80

15. Hift RJ, Thunell S, Brun A. Drugs in porphyria: From observation to a modern algorithm-based system for the prediction of porphyrogenicity. Pharmacol Ther. 2011;132(2):158-69

16. Сурин ВЛ, Лучинина ЮА, Селиванова ДС, Пустовойт ЯС, Карпова ИВ, Пивник АВидр. Молекулярно-генетическое исследование острой перемежающейся пор- фирии в России: мутационный анализ и поиск функциональных полиморфиз- мов в гене порфобилиногендезаминазы. Генетика. 2010;46(4):540-52

17. Beliaev AM, Foliaki A, Ha L, Boswell DR. Acute non-specific abdominal pain with port-wine urine. ANZ J Surg. 2012;82(6):478-9

18. Cuquemelle É, Ehrmann S, Razazi K, Deybach JC, Brun-Buisson C, Thille AW. An atypical case of Guillain-Barré syndrome: acute intermittent porphyria. Intensive Care Med. 2012;38(5):913-4

19. Ferreira FR, Silva CA, Costa SX. Acute intermittent porphyria, an important and rare differential diagnosis of acute abdomen: case report and literature review. Rev Bras Ter Intensiva. 2011;23(4):510-4

20. Santos AB, Gozzani JL, Groke DF. Neuropathic pain in a patient with porphyria. Case report. Rev Bras Anestesiol. 2010;60(6):634-8, 352-4

21. Shen FC, Hsieh CH, Huang CR, Lui CC, Tai WC, Chuang YC. Acute intermittent porphyria presenting as acute pancreatitis and posterior reversible encephalopathy syndrome. Acta Neurol Taiwan. 2008;17(3):177-83

22. Zhao B, Wei Q, Wang Y, Chen Y, Shang H. Posterior reversible encephalopathy Lin CS, Lee MJ, Park SB, Kiernan MC. Purple pigments: the pathophysiology of acute porphyric neuropathy. Clin Neurophysiol. 2011;122(12):2336-44

23. Sonderup MW, Hift RJ. The neurological manifestations of the acute porphyrias. S Afr Med J. 2014;104(4):285-6

24. Anyaegbu E, Goodman M, Ahn SY, Thangarajh M, Wong M, Shinawi M. Acute intermittent porphyria: a diagnostic challenge. J Child Neurol. 2012;27(7):917-21

25. Hultdin J, Schmauch A, Wikberg A, Dahlquist G, Andersson C. Acute intermittent porphyria in childhood: a population-based study. Acta Paediatr. 2003;92(5):562-8

26. Andersson C, Wikberg A, Stegmayr B, Lithner F. Renal symptomatology in patients with acute intermittent porphyria. A population-based study. J Intern Med. 2000; 248(4):319-25

27. Stewart MF. Review of hepatocellular cancer, hypertension and renal impairment as late complications of acute porphyria and recommendations for patient follow- up. J Clin Pathol. 2012;65(11):976-80

28. Hift RJ, Thunell S, Brun A. Drugs in porphyria: From observation to a modern algorithm-based system for the prediction of porphyrogenicity. Pharmacol Ther. 2011;132(2):158-69

29. Surin VL, Luchinina YA, Selivanova DS, Pustovoit YS, Karpova IV, Pivnik AV, et al. Molecular genetic study of acute intermittent porphyria in Russia: Mutation analysis and functional polymorphism search in porphobilinogen deaminase gene. Genetika. 2010;46(4):540-52. (In Russian)

30. Beliaev AM, Foliaki A, Ha L, Boswell DR. Acute non-specific abdominal pain with port-wine urine. ANZ J Surg. 2012;82(6):478-9

31. Cuquemelle É, Ehrmann S, Razazi K, Deybach JC, Brun-Buisson C, Thille AW. An atypical case of Guillain-Barré syndrome: acute intermittent porphyria. Intensive Care Med. 2012;38(5):913-4

32. Ferreira FR, Silva CA, Costa SX. Acute intermittent porphyria, an important and rare differential diagnosis of acute abdomen: case report and literature review. Rev Bras Ter Intensiva. 2011;23(4):510-4

33. Santos AB, Gozzani JL, Groke DF. Neuropathic pain in a patient with porphyria. Case report. Rev Bras Anestesiol. 2010;60(6):634-8, 352-4

34. Shen FC, Hsieh CH, Huang CR, Lui CC, Tai WC, Chuang YC. Acute intermittent porphyria presenting as acute pancreatitis and posterior reversible encephalopathy syndrome. Acta Neurol Taiwan. 2008;17(3):177-83

35. Zhao B, Wei Q, Wang Y, Chen Y, Shang H. Posterior reversible encephalopathy syndrome in acute intermittent porphyria. Pediatr Neurol. 2014;51(3):457-60. syndrome in acute intermittent porphyria. Pediatr Neurol. 2014;51(3):457-60