Czech Society of Hepatology guidelines for diagnosis and treatment of acute porphyrias
Authors:
R. Brůha 1; L. Vítek 1,2; J. Šperl 3
; P. Urbánek 4
Authors‘ workplace:
IV. interní klinika – klinika gastroenterologie a hepatologie 1. LF UK a VFN v Praze
1; Ústav lékařské biochemie a laboratorní diagnostiky, 1. LF UK a VFN v Praze
2; Klinika hepatogastroenterologie, Transplantcentrum, IKEM, Praha
3; Interní klinika 1. LF UK a ÚVN Praha
4
Published in:
Gastroent Hepatol 2017; 71(2): 101-104
Category:
Hepatology: Best Practises
doi:
https://doi.org/10.14735/amgh2017101
Porfyrie jsou vzácné metabolické choroby způsobené vrozeným enzymatickým defektem nebo získanou poruchou syntézy hemu. Důsledkem enzymatického defektu je zvýšená tvorba porfyrinů, porfyrinogenů či jejich prekurzorů vedoucí k jejich hromadění ve tkáních, případně ke zvýšenému vylučování do moči a stolice.
Overview
The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study.
The Editorial Board declares that the manuscript met the ICMJE „uniform requirements“ for biomedical papers.
Submitted:
7. 3. 2017
Accepted:
20. 3. 2017
Sources
1. Meyer UA, Strand LJ, Doss M et al. Intermittent acute porphyria – demonstration of a genetic defect in porphobilinogen metabolism. N Engl J Med 1972; 286 (24): 1277–1282.
2. Elder G, Harper P, Badminton M et al. The incidence of inherited porphyrias in Europe. J Inherit Metab Dis 2013; 36 (5): 849–857. doi: 10.1007/s10545-012-9544-4.
3. Ehrmann J, Hůlek P (eds). Hepatologie. Praha: Grada Publishing 2010: 616.
4. Welsh Medicines Information Centre. Drugs that are considered to be SAFE for use in the acute porphyrias. [online]. Available from: www.wmic.wales.nhs.uk/wp-content/uploads/2016/07/2016-porphyria-safe-list-FINAL.pdf.
5. European Porphyria Network. Available from: http: //porphyria.eu/en/content/ home.
6. Warren MJ, Cooper JB, Wood SP et al. Lead poisoning, haem synthesis and 5-aminolaevulinic acid dehydratase. Trends Biochem Sci 1998; 23 (6): 217–221.
7. Pischik E, Kauppinen R. An update of clinical management of acute intermittent porphyria. Appl Clin Genet 2015; 8: 201–214. doi: 10.2147/TACG.S48605.
8. Kauppinen R. Porphyrias. Lancet 2005; 365 (9455): 241–252.
9. Herrick AL, McColl KE, Moore MR et al. Controlled trial of haem arginate in acute hepatic porphyria. Lancet 1989; 1 (8650): 1295–1297.
10. Stein P, Badminton M, Barth J et al. Best practice guidelines on clinical management of acute attacks of porphyria and their complications. Ann Clin Biochem 2013; 50 (Pt 3): 217–223. doi: 10.1177/ 0004563212474555.
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Paediatric gastroenterology Gastroenterology and hepatology Medical genetics Surgery Cardiology NeurologyArticle was published in
Gastroenterology and Hepatology
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