Porfirias agudas: manifestaciones inespecíficas y manejo terapéutico específico

Autores:
Mejía, José Julián
Jaramillo Trujillo, Gilberto
Gómez, Luis Fernando
Jaramillo, María Andrea
Caballero Tovar, Dayana Milena
Tipo de recurso:
Article of journal
Fecha de publicación:
2020
Institución:
Fundación Universitaria de Ciencias de la Salud - FUCS
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Repositorio Digital Institucional ReDi
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spa
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oai:repositorio.fucsalud.edu.co:001/2897
Acceso en línea:
https://repositorio.fucsalud.edu.co/handle/001/2897
https://doi.org/10.31260/RepertMedCir.v29.n1.2020.886
Palabra clave:
Porfiria aguda
clasificación
diagnóstico
tratamiento
Acute porphyria
classification
diagnosis
treatment
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openAccess
License
Revista Repertorio de Medicina y Cirugía - 2020
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dc.title.spa.fl_str_mv Porfirias agudas: manifestaciones inespecíficas y manejo terapéutico específico
dc.title.translated.eng.fl_str_mv Acute porphyrias: unspecific manifestations and specific therapeutic management
title Porfirias agudas: manifestaciones inespecíficas y manejo terapéutico específico
spellingShingle Porfirias agudas: manifestaciones inespecíficas y manejo terapéutico específico
Porfiria aguda
clasificación
diagnóstico
tratamiento
Acute porphyria
classification
diagnosis
treatment
title_short Porfirias agudas: manifestaciones inespecíficas y manejo terapéutico específico
title_full Porfirias agudas: manifestaciones inespecíficas y manejo terapéutico específico
title_fullStr Porfirias agudas: manifestaciones inespecíficas y manejo terapéutico específico
title_full_unstemmed Porfirias agudas: manifestaciones inespecíficas y manejo terapéutico específico
title_sort Porfirias agudas: manifestaciones inespecíficas y manejo terapéutico específico
dc.creator.fl_str_mv Mejía, José Julián
Jaramillo Trujillo, Gilberto
Gómez, Luis Fernando
Jaramillo, María Andrea
Caballero Tovar, Dayana Milena
dc.contributor.author.spa.fl_str_mv Mejía, José Julián
Jaramillo Trujillo, Gilberto
Gómez, Luis Fernando
Jaramillo, María Andrea
Caballero Tovar, Dayana Milena
dc.subject.spa.fl_str_mv Porfiria aguda
clasificación
diagnóstico
tratamiento
topic Porfiria aguda
clasificación
diagnóstico
tratamiento
Acute porphyria
classification
diagnosis
treatment
dc.subject.eng.fl_str_mv Acute porphyria
classification
diagnosis
treatment
publishDate 2020
dc.date.accessioned.none.fl_str_mv 2020-03-16 00:00:00
2022-06-29T19:37:37Z
dc.date.issued.none.fl_str_mv 2020-03-16
dc.date.available.none.fl_str_mv 2020-03-16 00:00:00
2022-06-29T19:37:37Z
dc.type.spa.fl_str_mv Artículo de revista
dc.type.eng.fl_str_mv Journal article
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dc.relation.references.spa.fl_str_mv 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. 2. Bissell DM, Wang B. Acute Hepatic Porphyria. J Clin Transl Hepatol. 2015;3(1):17-26. doi: 10.14218/JCTH.2014.00039 3. Bonkovsky HL, Cable EE, Cable JW, Donohue SE, White EC, Greene YJ, et al. Porphyrogenic properties of the terpenes camphor, pinene, and thujone (with a note on historic implications for absinthe and the illness of Vincent van Gogh). Biochem Pharmacol. 1992;43(11):2359-68. doi: 10.1016/0006-2952(92)90314-9. 4. Winkler MG, Anderson KE. Vampires, porphyria, and the media: medicalization of a myth. Perspect Biol Med. 1990;33(4):598-611. 5. Siegesmund M, van Tuyll van Serooskerken AM, Poblete-Gutierrez P, Frank J. The acute hepatic porphyrias: current status and future challenges. Best Pract Res Clin Gastroenterol. 2010;24(5):593-605. doi: 10.1016/j.bpg.2010.08.010 6. Besur S, Schmeltzer P, Bonkovsky HL. Acute Porphyrias. J Emerg Med. 2015;49(3):305-12. doi: 10.1016/j.jemermed.2015.04.034 7. Meissner PN, Dailey TA, Hift RJ, Ziman M, Corrigall AV, Roberts AG, et al. A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria. Nat Genet. 1996;13(1):95-7. doi: 10.1038/ng0596-95 8. Puy H, Gouya L, Deybach JC. Porphyrias. Lancet. 2010;375(9718):924-37. 9. Fuller S, Wiley J. Heme Biosynthesis and Its Disorders: Porphyrias and Sideroblastic Anemias. In: John Anastasi LS, editor. Hematology: Basic Principles and Practice. Livingstone: Elsevier; 2013. p. 457-72.e5. 10. Chiabrando D, Mercurio S, Tolosano E. Heme and erythropoieis: more than a structural role. Haematologica. 2014;99(6):973-83. doi: 10.3324/haematol.2013.091991 11. Furuyama K, Sassa S. Interaction between succinyl CoA synthetase and the heme-biosynthetic enzyme ALAS-E is disrupted in sideroblastic anemia. J Clin Invest. 2000;105(6):757-64. doi: 10.1172/JCI6816 12. Shaw GC, Cope JJ, Li L, Corson K, Hersey C, Ackermann GE, et al. Mitoferrin is essential for erythroid iron assimilation. Nature. 2006;440(7080):96-100. doi: 10.1038/nature04512 13. Sassa S. Hematologic aspects of the porphyrias. Int J Hematol. 2000;71(1):1-17. 14. 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. doi: 10.3390/metabo4040977 15. Pischik E, Kauppinen R. An update of clinical management of acute intermittent porphyria. Appl Clin Genet. 2015;8:201-14. doi: 10.2147/TACG.S48605 16. Simon NG, Herkes GK. The neurologic manifestations of the acute porphyrias. J Clin Neurosci: official journal of the Neurosurgical Society of Australasia. 2011;18(9):1147-53. doi: 10.1016/j.jocn.2011.01.003 17. Hermes-Lima M, Castilho RF, Valle VG, Bechara EJ, Vercesi AE. Calcium-dependent mitochondrial oxidative damage promoted by 5-aminolevulinic acid. Biochim Biophys Acta. 1992;1180(2):201-6. doi: 10.1016/0925-4439(92)90069-y 18. Felitsyn N, McLeod C, Shroads AL, Stacpoole PW, Notterpek L. The heme precursor delta-aminolevulinate blocks peripheral myelin formation. J Neurochem. 2008;106(5):2068-79. doi: 10.1111/j.1471-4159.2008.05552.x. 19. Percy VA, Shanley BC. Studies on haem biosynthesis in rat brain. J Neurochem. 1979;33(6):1267-74. doi: 10.1111/j.1471-4159.1979.tb05273.x 20. Lin CS, Krishnan AV, Lee MJ, Zagami AS, You HL, Yang CC, et al. Nerve function and dysfunction in acute intermittent porphyria. Brain : a journal of neurology. 2008;131(Pt 9):2510-9. doi: 10.1093/brain/awn152. 21. Horn S, Quasthoff S, Grafe P, Bostock H, Renner R, Schrank B. Abnormal axonal inward rectification in diabetic neuropathy. Muscle Nerve. 1996;19(10):1268-75. doi: 10.1002/mus.880191002 22. Kauppinen R, Mustajoki P. Prognosis of acute porphyria: occurrence of acute attacks, precipitating factors, and associated diseases. Medicine (Baltimore). 1992;71(1):1-13. 23. Herrick AL, McColl KEL. Acute intermittent porphyria. Best practice & research Clinical gastroenterology. 2005;19(2):235-49. doi: 10.1016/j.bpg.2004.10.006 24. Balwani M, Desnick RJ. The porphyrias: advances in diagnosis and treatment. Blood. 2012;120(23):4496-504. doi: 10.1182/blood-2012-05-423186 25. Hasanoglu A, Balwani M, Kasapkara CS, Ezgu FS, Okur I, Tumer L, et al. Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R. J Inherit Metab Dis. 2011;34(1):225-31. doi: 10.1007/s10545-010-9237-9. 26. Ventura P, Cappellini MD, Biolcati G, Guida CC, Rocchi E. A challenging diagnosis for potential fatal diseases: recommendations for diagnosing acute porphyrias. Eur J Intern Med. 2014;25(6):497-505. doi: 10.1016/j.ejim.2014.03.011 27. Anderson KE, Bloomer JR, Bonkovsky HL, Kushner JP, Pierach CA, Pimstone NR, et al. Recommendations for the diagnosis and treatment of the acute porphyrias. Ann Intern Med. 2005;142(6):439-50. doi: 10.7326/0003-4819-142-6-200503150-00010 28. Elder GH, Hift RJ, Meissner PN. The acute porphyrias. Lancet. 1997;349(9065):1613-7. doi: 10.1016/S0140-6736(96)09070-8 29. Hift RJ, Peters TJ, Meissner PN. A review of the clinical presentation, natural history and inheritance of variegate porphyria: its implausibility as the source of the 'Royal Malady'. J Clin Pathol. 2012;65(3):200-5. doi: 10.1136/jclinpath-2011-200276 30. Sassa S. ALAD porphyria. Semin Liver Dis. 1998;18(1):95-101. doi: 10.1055/s-2007-1007145 31. Herman DS, Geraldine M, Venkatesh T. Evaluation, diagnosis, and treatment of lead poisoning in a patient with occupational lead exposure: a case presentation. J Occup Med Toxicol. 2007;2:7. doi: 10.1186/1745-6673-2-7 32. Bonkovsky HL. Neurovisceral porphyrias: what a hematologist needs to know. Hematology American Society of Hematology Education Program. 2005:24-30. doi: 10.1182/asheducation-2005.1.24 33. Pischik E, Kauppinen R. Neurological manifestations of acute intermittent porphyria. Cell Mol Biol (Noisy-le-grand). 2009;55(1):72-83. 34. Crimlisk HL. The little imitator--porphyria: a neuropsychiatric disorder. J Neurol Neurosurg Psychiatry. 1997;62(4):319-28. doi: 10.1136/jnnp.62.4.319 35. Hindmarsh JT. The porphyrias, appropriate test selection. Clinica chimica acta; international journal of clinical chemistry. 2003;333(2):203-7. doi: 10.1016/s0009-8981(03)00187-6 36. Guilard R, Kadish K, Smith K. The Porphyrin Handbook: Elsevier; 2003. 37. Elder GH, Hift RJ. Treatment of acute porphyria. Hosp Med. 2001;62(7):422-5. 38. Disler PB, Eales L. The acute attack of porphyria. S Afr Med J = Suid-Afrikaanse tydskrif vir geneeskunde. 1982;61(3):82-4. 39. 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. doi: 10.1016/j.clinre.2015.05.009 40. Lai CK, Lam CW, Chan YW. High-performance thin-layer chromatography of free porphyrins for diagnosis of porphyria. Clin Chem. 1994;40(11 Pt 1):2026-9. 41. Sardh E, Andersson DE, Henrichson A, Harper P. Porphyrin precursors and porphyrins in three patients with acute intermittent porphyria and end-stage renal disease under different therapy regimes. Cell Mol Biol (Noisy-le-grand). 2009;55(1):66-71. 42. With TK. Simple and rapid screening for acute porphyria--'porphobilistix' and Hoesch test. S Afr Med J. = Suid-Afrikaanse tydskrif vir geneeskunde. 1971:229-30. 43. Deacon AC, Peters TJ. Identification of acute porphyria: evaluation of a commercial screening test for urinary porphobilinogen. Ann Clin Biochem. 1998;35 ( Pt 6):726-32. doi: 10.1177/000456329803500604 44. McEwen J, Paterson C. Drugs and false-positive screening tests for porphyria. Br Med J. 1972;1(5797):421. doi: 10.1136/bmj.1.5797.421 45. Frith D, Yeung K, Thrush S, Hunt BJ, Hubbard JG. Lead poisoning--a differential diagnosis for abdominal pain. Lancet. 2005;366(9503):2146. doi: 10.1016/S0140-6736(05)67893-2 46. Akagi R, Inoue R, Muranaka S, Tahara T, Taketani S, Anderson KE, et al. Dual gene defects involving delta-aminolaevulinate dehydratase and coproporphyrinogen oxidase in a porphyria patient. British journal of haematology. 2006;132(2):237-43. doi: 10.1111/j.1365-2141.2005.05852.x 47. De Rooij F, Edixhoven A, P. Wilson JH. Porphyria: A Diagnostic Approach. In: Kadish KM, Smith KM, Guilard R, editors. The Porphyrin Handbook: Elsevier; 2003. p. 93. 48. Sardh E, Harper P, Andersson DE, Floderus Y. Plasma porphobilinogen as a sensitive biomarker to monitor the clinical and therapeutic course of acute intermittent porphyria attacks. Eur J Intern Med. 2009;20(2):201-7. doi: 10.1016/j.ejim.2008.06.012 49. Erlandsen EJ, Jorgensen PE, Markussen S, Brock A. Determination of porphobilinogen deaminase activity in human erythrocytes: pertinent factors in obtaining optimal conditions for measurements. Scand J Clin Lab Invest. 2000;60(7):627-34. 50. Di Pierro E, Brancaleoni V, Besana V, Cappellini MD. Multiplex ligation-dependent probe amplification: a novel approach for genetic diagnosis of Porphyria. J Hum Genet. 2009;54(8):479-87. doi: 10.1038/jhg.2009.67. 51. De Siervi A, Varela LS, Parera VE, Batlle AM, Rossetti MV. Diagnosis of latent acute intermittent porphyria by genetic analysis. Ann Clin Biochem. 2001;38(Pt 2):149-52. doi: 10.1258/0004563011900344 52. Mustajoki P, Nordmann Y. Early administration of heme arginate for acute porphyric attacks. Arch Intern Med. 1993;153(17):2004-8. 53. Chemmanur AT, Bonkovsky HL. Hepatic porphyrias: diagnosis and management. Clin Liver Dis. 2004;8(4):807-38, viii. doi: 10.1016/j.cld.2004.07.001 54. Desnick RJ, Balwani M. The Porphyrias. In: Kasper D, Fauci A, Hauser S, Longo D, Jameson JL, Loscalzo J, editors. Harrison's Principles of Internal Medicine. 19 ed: McGraw-Hill; 2015. 55. Marsden JT, Guppy S, Stein P, Cox TM, Badminton M, Gardiner T, et al. Audit of the Use of Regular Haem Arginate Infusions in Patients with Acute Porphyria to Prevent Recurrent Symptoms. JIMD Rep. 2015;22:57-65. doi: 10.1007/8904_2015_411 56. Stein P, Badminton M, Barth J, Rees D, Stewart MF. Best practice guidelines on clinical management of acute attacks of porphyria and their complications. Ann Clin Biochem. 2013;50(Pt 3):217-23. doi: 10.1177/0004563212474555 57. Jones SR, Bell A, Brink G. Treatment of acute intermittent porphyria in the emergency department. J Emerg Nurs: JEN : official publication of the Emergency Department Nurses Association. 2014;40(3):257-9; quiz 92-3. doi: 10.1016/j.jen.2013.11.014 58. López O, Lemus E. Porfiria intermitente aguda: presentación de un caso y revisión de la literatura. Acta Colombiana de Cuidado Intensivo 2008;8(2):110-5. 59. González W, Hernán Rodríguez J. Manejo médico y farmacológico del estatus epiléptico. Acta Neurológica Colombiana. 2011;27:39-46. 60. Mehta M, Rath GP, Padhy UP, Marda M, Mahajan C, Dash HH. Intensive care management of patients with acute intermittent porphyria: Clinical report of four cases and review of literature. Indian journal of critical care medicine : peer-reviewed, official publication of Indian J Crit Care Med. 2010;14(2):88-91. doi: 10.4103/0972-5229.68222 61. Harrison JC, McAuley FT. Propofol for sedation in intensive care in a patient with an acute porphyric attack. Anaesthesia. 1992;47(4):355-6. doi: 10.1111/j.1365-2044.1992.tb02186.x 62. Pandey CK, Singh N, Bose N, Sahay S. Gabapentin and propofol for treatment of status epilepticus in acute intermittent porphyria. J Postgrad Med. 2003;49(3):285. 63. Yandel ML, Watters MR. Treatment of complex partial status epilepticus unmasking acute intermittent porphyria in a patient with resected anaplastic glioma. Clin Neurol Neurosurg. 1995;97(3):261-3. 64. Zaatreh MM. Levetiracetam in porphyric status epilepticus: a case report. Clin Neuropharmacol. 2005;28(5):243-4. 65. Robert TL, Varella L, Meguid MM. Nutrition management of acute intermittent porphyria. Nutrition. 1994;10(6):551-5; quiz 6-7. 66. Bonkovsky HL, Healey JF, Lourie AN, Gerron GG. Intravenous heme-albumin in acute intermittent porphyria: evidence for repletion of hepatic hemoproteins and regulatory heme pools. Am J Gastroenterol. 1991;86(8):1050-6. 67. Anderson KE, Bonkovsky HL, Bloomer JR, Shedlofsky SI. Reconstitution of hematin for intravenous infusion. Ann of Intern Med. 2006;144(7):537-8. doi: 10.7326/0003-4819-144-7-200604040-00023 68. Mendenhall DW. Instability of hematin solutions. N Engl J Med. 1984;311(8):539. doi: 10.1056/NEJM198408233110819 69. Goetsch CA, Bissell DM. Instability of hematin used in the treatment of acute hepatic porphyria. N Engl J Med. 1986;315(4):235-8. doi: 10.1056/NEJM198607243150406 70. Badminton MN, Deybach JC. Treatment of an acute attack of porphyria during pregnancy. Eur J Neurol. 2006;13(6):668-9. doi: 10.1111/j.1468-1331.2006.01238.x 71. Pischik E, Kauppinen R. Can pregnancy stop cyclical attacks of porphyria?. Am J Med. 2006;119(1):88-90. 72. Tenhunen R, Mustajoki P. Acute porphyria: treatment with heme. Seminars in liver disease. 1998;18(1):53-5. doi: 10.1016/j.amjmed.2005.08.032 73. Sardh E, Rejkjaer L, Andersson DE, Harper P. Safety, pharmacokinetics and pharmocodynamics of recombinant human porphobilinogen deaminase in healthy subjects and asymptomatic carriers of the acute intermittent porphyria gene who have increased porphyrin precursor excretion. Clin Pharmacokinet. 2007;46(4):335-49. doi: 10.2165/00003088-200746040-00006 74. Jeans JB, Savik K, Gross CR, Weimer MK, Bossenmaier IC, Pierach CA, et al. Mortality in patients with acute intermittent porphyria requiring hospitalization: a United States case series. Am J Med Genet. 1996;65(4):269-73. doi: 10.1002/(SICI)1096-8628(19961111)65:4<269::AID-AJMG4>3.0.CO;2-K 75. Andant C, Puy H, Bogard C, Faivre J, Soule JC, Nordmann Y, et al. Hepatocellular carcinoma in patients with acute hepatic porphyria: frequency of occurrence and related factors. J Hepatol. 2000;32(6):933-9.
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spelling Mejía, José Juliánebbc09881b312f47f46488362ed1c077300Jaramillo Trujillo, Gilbertodb279fa900de91a2237efa5e8b3b199d500Gómez, Luis Fernando4718095d86c26375a2b71790af46e313300Jaramillo, María Andreadb911be7ca362ad56ba02b102097b1a1500Caballero Tovar, Dayana Milena2b6faefafa9e113ff61c8c9cf6cf1d683002020-03-16 00:00:002022-06-29T19:37:37Z2020-03-162020-03-16 00:00:002022-06-29T19:37:37ZSociedad de Cirugía de Bogotá, Hospital de San José y Fundación Universitaria de Ciencias de la SaludRevista Repertorio de Medicina y Cirugía - 2020info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/4.0/http://purl.org/coar/access_right/c_abf2https://revistas.fucsalud.edu.co/index.php/repertorio/article/view/886Porfiria agudaclasificacióndiagnósticotratamientoAcute porphyriaclassificationdiagnosistreatmentPorfirias agudas: manifestaciones inespecíficas y manejo terapéutico específicoAcute porphyrias: unspecific manifestations and specific therapeutic managementapplication/pdftext/htmlapplication/epub+ziptext/xmlaudio/mpegArtículo de revistaJournal articlehttp://purl.org/coar/resource_type/c_6501http://purl.org/coar/resource_type/c_dcae04bchttp://purl.org/coar/resource_type/c_2df8fbb1info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionTexthttp://purl.org/redcol/resource_type/ARTREVhttp://purl.org/coar/version/c_970fb48d4fbd8a8510.31260/RepertMedCir.v29.n1.2020.8860121-7372https://repositorio.fucsalud.edu.co/handle/001/28972462-991Xhttps://doi.org/10.31260/RepertMedCir.v29.n1.2020.886spaBonkovsky HL, Guo JT, Hou W, Li T, Narang T, Thapar M. 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J Hepatol. 2000;32(6):933-9.https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/886/1257https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/886/1134https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/886/1135https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/886/1169https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/886/1208Núm. 1 , Año 2020 : Enero - Abril129Revista Repertorio de Medicina y CirugíaPublicationOREORE.xmltext/xml2896https://repositorio.fucsalud.edu.co/bitstreams/522e0402-a323-4833-8277-bbd2cc634e6a/downloade8e893664f28b51711a913c1d9e48b63MD51001/2897oai:repositorio.fucsalud.edu.co:001/28972024-02-02 13:09:53.95https://creativecommons.org/licenses/by-nc-sa/4.0/Revista Repertorio de Medicina y Cirugía - 2020metadata.onlyhttps://repositorio.fucsalud.edu.coRepositorio Digital de la Fundación Universitaria de Ciencias de la Saludredi@fucsalud.edu.co

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