Вторичные порфиринурии
https://doi.org/10.24287/1726-1708-2016-15-3-46-53
Аннотация
Ключевые слова
вторичные порфиринурии,
дети,
диагностика,
копропорфиринурия,
метаболизм гема,
острые порфирии,
полинейропатия,
психоневрологическая симптоматика,
secondary porphyrinuria,
children,
diagnosis,
coproporphyrinuria,
heme metabolism,
acute porphyrias,
polyneuropathy,
psychoneurological symptoms
Об авторах
Дарья Викторовна Федорова
Федеральный научно-клинический центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева Минздрава России
Россия
Россия
Светлана Прокофьевна Хомякова
Федеральный научно-клинический центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева Минздрава России
Россия
Россия
Андрей Станиславович Козловский
Российская детская клиническая больница Минздрава России
Россия
Россия
Вадим Леонидович Сурин
Гематологический научный центр Минздрава России
Россия
Россия
Список литературы
1. Kleingardner JG, Bren KL. Biological significance and applications of heme c proteins and peptides. Acc Chem Res. 2015;48(7):1845-52.
2. Besur S, Hou W, Schmeltzer P, Bonkovsky HL. Clinically important features of porphyrin and heme metabolism and the porphyrias. Metabolites. 2014;4(4): 977-1006.
3. Fujiwara T, Harigae H. Biology of heme in mammalian erythroid cells and related disorders. Biomed Res Int. 2015;2015:278536.
4. Herrick AL, McColl KE. Acute intermittent porphyria. Best Pract Res Clin Gastroenterol. 2005;19(2):235-49.
5. Puy H, Gouya L, Deybach JC. Porphyrias. Lancet. 2010;375(9718):924-37.
6. Karim Z, Lyoumi S, Nicolas G, Deybach JC, Gouya L, Puy H. Porphyrias: a 2015 update. Clin Res Hepatol Gastroenterol. 2015;39(4):412-25.
7. Besur S, Schmeltzer P, Bonkovsky HL. Acute porphyrias. J Emerg Med. 2015;49(3):305-12.
8. Bissell DM, Wang B. Acute hepatic porphyria. J Clin Transl Hepatol. 2015;3(1): 17-26.
9. 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(Pt 3):217-23.
10. Lin CS, Lee MJ, Park SB, Kiernan MC. Purple pigments: the pathophysiology of acute porphyric neuropathy. Clin Neurophysiol. 2011;122(12):2336-44.
11. Liu LU, Phillips J, Bonkovsky H. Porphyria cutanea tarda, type II[Updated 2013 Aug 22]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, et al, eds. GeneReviews® [Internet]. Seattle (WA):University of Washington, Seattle; 1993-2016 [cited 2016 Mar 30]. Avaible at: http://www.ncbi.nlm.gov/ books/NBK143129.
12. Liu LU, Phillips J, Bonkovsky H. Hepatoerythropoietic porphyria [Updated 2013 Oct 31]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, et al, eds. GeneReviews® [Internet]. Seattle (WA):University of Washington, Seattle;1993-2016 [cited 2016 Mar 30]. Avaible at: http://www.ncbi.nlm.gov/ books/NBK169003.
13. 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.
14. Bissell DM, Lai JC, Meister RK, Blanc PD. Role of delta-aminolevulinic acid in the symptoms of acute porphyria. Am J Med. 2015;128(3):313-7.
15. Bonkovsky HL, Guo JT, Hou W, Li T, Narang T, Thapar M. Porphyrin and heme metabolism and the porphyrias. Compr Physiol. 2013;3(1):365-401.
16. Pischik E, Kazakov V, Kauppinen R. Is screening for urinary porphobilinogen useful among patients with acute polyneuropathy or encephalopathy? J Neurol. 2008;255(7):974-9.
17. Hift R, Meissner P. Miscellaneous abnormalities in porphyrin production and disposal. In: Kadish KM, Smith KM, Guilard R, eds. The porphyrin handbook. San Diego: Elsevier Science, 2003;151-65.
18. Bonkovsky HL, Barnard GF. Diagnosis of porphyric syndromes: a practical approach in the era of molecular biology. Semin Liver Dis. 1998;18(1):57-65.
19. Lamon JM. Clinical aspects of porphyrin measurement, other than lead poisoning. Clin Chem. 1977;23(2, Pt. 1):260-3.
20. Ochiai T, Morishima T, Kondo M. Symptomatic porphyria secondary to hepatocellular carcinoma. Br J Dermatol. 1997;136(1):129-31.
21. Doss MO, Kühnel A, Gross U. Alcohol and porphyrin metabolism. Alcohol Alcohol. 2000;35(2):109-25.
22. Akshatha LN, Rukmini MS, Shenoy MT, P SR, B P. Lead poisoning mimicking acute porphyria! J Clin Diagn Res. 2014;8(12):CD01-2.
23. Andrade VM, Mateus ML, Batoréu MC, Aschner M, Marreilha dos Santos AP. Lead, arsenic, and manganese metal mixture exposures: focus on biomarkers of effect. Biol Trace Elem Res. 2015;166(1):13-23.
24. Wang L, Angley MT, Gerber JP, Sorich MJ. A review of candidate urinary biomarkers for autism spectrum disorder. Biomarkers. 2011;16(7):537-52.
25. Heyer NJ, Echeverria D, Woods JS. Disordered porphyrin metabolism: a potential biological marker for autism risk assessment. Autism Res. 2012;5(2):84-92.
26. Shandley K, Austin DW, Bhowmik JL. Are urinary porphyrins a valid diagnostic biomarker of autism spectrum disorder? Autism Res. 2014;7(5):535-42.
27. Macedoni-Luksic M, Gosar D, Bj0rklund G, Orazem J, Kodric J, Lesnik-Musek P, et al. Levels of metals in the blood and specific porphyrins in the urine in children with autism spectrum disorders. Biol Trace Elem Res. 2015;163(1-2):2-10.
28. Markova A, Lester J, Wang J, Robinson-Bostom L. Diagnosis of common dermo-pathies in dialysis patients: a review and update. Semin Dial. 2012;25(4):408-18.
29. Oberndorfer S, Hitzenberger P, Gruber W, Seidel J, Urbanits S, Doss M, et al. Secondary coproporphyrinuria in a patient with the full clinical picture of a hereditary acute hepatic porphyria. A misleading clinical and biochemical course. J Neurol. 2002;249(9):1325-26.
30. Ahle G, Wierzba S, Haupts M, König M, Gehlen W. Acute left hemispheric syndrome with cortical lesions in a patient with secondary porphyrinuria. J Neurol. 2005;252(8):983-4.
31. 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.
32. 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.
Рецензия
Для цитирования:
Федорова Д.В., Хомякова С.П., Козловский А.С., Сурин В.Л. Вторичные порфиринурии. Вопросы гематологии/онкологии и иммунопатологии в педиатрии. 2016;15(3):46-53. https://doi.org/10.24287/1726-1708-2016-15-3-46-53
For citation:
Fedorova D.V., Khomyakova S.P., Kozlovskiy A.S., Surin V.L. Secondary porphyrinurias. Pediatric Hematology/Oncology and Immunopathology. 2016;15(3):46-53. (In Russ.) https://doi.org/10.24287/1726-1708-2016-15-3-46-53
Просмотров: 435
Послать статью по эл. почте 
