Diagnostic and therapeutic alternatives for acute hepatic porphyrias in adults from a current perspective
Keywords:
hepatic porphyria, hemo, hemin, genetic diseases.Abstract
Introduction: Acute hepatic porphyria is a genetic disorder caused by irregular activity in the synthesis of the heme group. Although they are of low incidence, their presence can increase the risk of death and affect the quality of life of patients. A bibliographic search was carried out with a time interval from 2015 to 2020 on acute hepatic porphyria.Objectives: To update on the diagnostic and therapeutic alternatives for acute hepatic porphyria in adults.
Development: Exposure to certain precipitating factors such as drugs, infections, and stress leads to an acute porphyria crisis, which triggers neurovisceral symptoms and requires hospitalization. There are isolated theories that explain the mechanism of damage during the acute attack, such as autonomic hyperactivity, inflammation, endothelial and mitochondrial dysfunction, kidney damage, and neurotoxicity. However, clinical recognition of these mechanisms without a known diagnosis of porphyria is challenging for medical personnel, due to the presence of nonspecific symptoms and signs, delaying diagnosis. Due to the dependence on hemin for life, new therapeutic alternatives such as gene suppression and liver transplantation have been chosen. The prognosis is favorable when the diagnosis is made in time.
Conclusion: Diagnostic and therapeutic alternatives for acute hepatic porphyria in adults have evolved towards orthopedic liver transplantation and gene therapy, which has become a promising and validated therapeutic approach for the treatment of patients with hepatic porphyria.
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References
1. Bissell DM, Anderson KE, Bonkovsky HL. Porphyria. N Engl J Med. 2017 [acceso: 18/03/2021]; 377(9):862-72. Disponible en: https://doi.org/10.1056/NEJMra1608634
2. Barranco L, Montoya M, Herrera F. Porfiria aguda: Dilema diagnósticos y manifestaciones neuroendocrinas; a propósito de un caso. Acta Médica Colomb. 2017 [acceso: 18/03/2021]; 42(2):140-3. Disponible en: https://doi.org/10.36104/amc.2017.803
3. Kumar S, Bhalla A, Sharma N, Dhibar DP, Kumari S, Subhash V. Clinical, Biochemical Characteristics and Hospital Outcome of Acute Intermittent Porphyria Patients: A Descriptive Study from North India. Ann Indian Acad Neurol. 2017 [acceso: 18/03/2021]; 20(3):263-9. Disponible en: https://www.annalsofian.org/text.asp?2017/20/3/263/212728
4. Yang J, Chen Q, Yang H, Hua B, Zhu T, Zhao Y, et al. Clinical and Laboratory Features of Acute Porphyria: A Study of 36 Subjects in a Chinese Tertiary Referral Center. Biomed Res Int. 2016 [acceso: 18/03/2021]; 2006: [aprox. 5 pag.]. Disponible en: https://doi.org/10.1155/2016/3927635
5. Gonzalez L, Sonthalia S. Acute Intermittent Porphyria. Treasure Island: StatPearls; 2020. [acceso: 18/03/2021]. Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/31613445
6. Lovrić M. Porphyrias - diagnostic challenge in Emergency room. Signa Vitae - A J Intensive Care Emerg Med. 2015 [acceso: 18/03/2021]; 10(Suppl 1):87-8. Disponible en: https://doi.org/10.22514/SV101.062015.27
7. Stein P, Badminton M, Rees D. Update review of the acute porphyrias. Br J Haematol. 2017 [acceso: 18/03/2021]; 176(4): 527-38. Disponible en: https://doi.org/10.1111/bjh.14459
8. Pischik E, Kauppinen R. An update of clinical management of acute intermittent porphyria. Appl Clin Genet. 2015 [acceso: 18/03/2021]; 8(1):201. Disponible en: https://doi.org/10.2147/TACG.S48605
9. Agarwal V, Singhal N. Porphyria: An uncommon cause of posterior reversible encephalopathy syndrome. J Pediatr Neurosci. 2019 [acceso: 18/03/2021]; 14(3):137. Disponible en: https://doi.org/10.4103/jpn.JPN_17_19
10. Sardh E, Harper P, Balwani M, Stein P, Rees D, Bissell DM, et al. Phase 1 Trial of an RNA Interference Therapy for Acute Intermittent Porphyria. N Engl J Med. 2019 [acceso: 18/03/2021]; 380(6):549-58. Disponible en: https://doi.org/10.1056/NEJMoa1807838
11. Yasuda M, Erwin A, Liu L, Balwani M, Chen B, Kadirvel S, et al. Liver Transplantation for Acute Intermittent Porphyria: Biochemical and Pathologic Studies of the Explanted Liver. Mol Med. 2015 [acceso: 18/03/2021]; 21(1):487-95. Disponible en: https://doi.org/10.2119/molmed.2015.00099
12. APF. Porphyria. American Porphyria Foundation. 2020 [acceso: 05/07/2021]. Disponible en: https://porphyriafoundation.org/for-patients/about-porphyria/
13. Bustos J, Vargas L, Quintero R. Porfiria intermitente aguda: reporte de caso. Rev Biomédica. 2020 [acceso: 18/03/2021]; 40(1):1-15. Disponible en: https://doi.org/10.7705/biomedica.4767
14. Bonkovsky H, Dixon N, Rudnick S. Pathogenesis and clinical features of the acute hepatic porphyrias (AHPs). Mol Genet Metab. 2019 [acceso: 18/03/2021]; 128(3):213-8. Disponible en: https://doi.org/10.1016/j.ymgme.2019.03.002
15. Mejia J, Caballero D, Villanueva J, Dueñas C. Porfirias agudas: enfoque diagnóstico y terapéutico. Acta Colomb Cuid Intensivo. 2017 [acceso: 18/03/2021]; 17(4):276-94. Disponible en: https://doi.org/10.1016/j.acci.2017.10.002
16. Marsden J, Guppy S, Stein P, Cox T, 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 Reports. Berlin, Heidelberg: Springer; 2015. [acceso: 18/03/2021]. Disponible en: https://doi.org/10.1007/8904_2015_411
17. Herrero C, Badenas C, Aguilera P, To-Figueras J. Porfiria aguda intermitente: seguimiento a largo término de 35 pacientes. Med Clin (Barc). 2015 [acceso: 18/03/2021]; 145(8):332-7. Disponible en: https://doi.org/10.1016/j.medcli.2014.06.012
18. Chen B, Solis C, Hakenberg J, Qiao W, Srinivasan R, Yasuda M, et al. Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease. Hum Mutat. 2016 [acceso: 18/03/2021]; 37(11):1215-22. Disponible en: https://doi.org/10.1002/humu.23067
19. Indika N, Kesavan T, Dilanthi H, Jayasena K, Chandrasiri N, Jayasinghe I, et al. Many pitfalls in diagnosis of acute intermittent porphyria: a case report. BMC Res Notes. 2018 [acceso: 18/03/2021]; 11(1):552. Disponible en: https://doi.org/doi/10.1186/s13104-018-3615-z
20. Arora S, Young S, Kodali S, Singal A. Hepatic porphyria: A narrative review. Indian J Gastroenterol. 2016 [acceso: 18/03/2021]; 35(6):405-18. Disponible en: https://doi.org/10.1007/s12664-016-0698-0
21. Baravelli C, Aarsand A, Sandberg S, Tollånes M. Sick leave, disability, and mortality in acute hepatic porphyria: a nationwide cohort study. Orphanet J Rare Dis. 2020 [acceso: 18/03/2021];15(1):56. Disponible en: https://doi.org/10.1186/s13023-019-1273-4
22. Ramanujam S, Anderson KE. Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias. Curr Protoc Hum Genet. 2015 [acceso: 18/03/2021]; 86(1): [aprox. 6 pant.]. Disponible en: https://doi.org/10.1002/0471142905.hg1720s86
23. Maitra D, Cunha B, Elenbaas J, Bonkovsky H, Shavit J, Omary B. Porphyrin-Induced Protein Oxidation and Aggregation as a Mechanism of Porphyria-Associated Cell Injury. Cell Mol Gastroenterol Hepatol. 2019 [acceso: 18/03/2021]; 8(4):535-48. Disponible en: https://doi.org/10.1016/j.jcmgh.2019.06.006
24. de Paula Brandão PR, Titze-de-Almeida SS, Titze-de-Almeida R. Leading RNA Interference Therapeutics Part 2: Silencing Delta-Aminolevulinic Acid Synthase 1, with a Focus on Givosiran. Mol Diagn Ther. 2020 [acceso: 18/03/2021]; 24(1):61-8. Disponible en: https://doi.org/10.1007/s40291-019-00438-6
25. Stölzel U, Doss M, Schuppan D. Clinical Guide and Update on Porphyrias. Gastroenterology. 2019 [acceso: 18/03/2021]; 157(2):365-381.e4. Disponible en: https://doi.org/10.1053/j.gastro.2019.04.050
26. Wang B, Rudnick S, Cengia B, Bonkovsky H. Acute Hepatic Porphyrias: Review and Recent Progress. Hepatol Commun. 2019 [acceso: 18/03/2021]; 3(2):193-206. Disponible en: https://doi.org/10.1002/hep4.1297
27. Fortgens P, Pienaar E, Corrigall A, Sonderup M, Spearman CW, Meissner P. Molecular characterisation of acute intermittent porphyria in a cohort of South African patients and kinetic analysis of two expressed mutants. J Clin Pathol. 2017 [acceso: 18/03/2021]; 70(6):515-20. Disponible en: https://dx.doi.org/10.1136/jclinpath-2016-203907
28. Cuny J. Porfirias cutáneas. EMC - Dermatología. 2016 Mar [acceso: 18/03/2021]; 50(1):1-14. Disponible en: https://doi.org/10.1016/S1761-2896(16)76332-1
29. Baravelli CM, Aarsand AK, Sandberg S, Tollånes MC. Sick leave, disability, and mortality in acute hepatic porphyria: a nationwide cohort study. Orphanet J Rare Dis. 2020 [acceso: 18/03/2021]; 15(1):56. Disponible en: https://dx.doi.org/10.1186/s13023-019-1273-4
30. Erazo AF, Erazo MS, Zamora TO. Porfiria intermitente aguda como desencadenante de síndrome de Guillain-Barre. Rev la Fac Med. 2019 [acceso: 18/03/2021]; 67(2):349-55. Disponible en: https://doi.org/10.15446/revfacmed.v67n2.68373
31. Balwani M, Wang B, Anderson K, Bloomer J, Bissell M, Bonkovsky H, et al. Acute hepatic porphyrias: Recommendations for evaluation and long-term management. Hepatology. 2017 [acceso: 18/03/2021]; 66(4):1314-22. Disponible en: https://doi.org/10.1002/hep.29313
32. Jaramillo D, Solano J, Rabinstein A, Bonkovsky H. Porphyria-induced posterior reversible encephalopathy syndrome and central nervous system dysfunction. Mol Genet Metab. 2019 [acceso: 18/03/2021]; 128(3):242-53. Disponible en: https://doi.org/10.1016/j.ymgme.2019.10.011
33. Chiabrando D, Fiorito V, Petrillo S, Tolosano E. Unraveling the Role of Heme in Neurodegeneration. Front Neurosci. 2018 [acceso: 18/03/2021]; 12(712):1-14. Disponible en: https://doi.org/10.3389/fnins.2018.00712
34. Takata T, Kume K, Kokudo Y, Ikeda K, Kamada M, Touge T, et al. Acute Intermittent Porphyria Presenting with Posterior Reversible Encephalopathy Syndrome, Accompanied by Prolonged Vasoconstriction. Intern Med. 2017 [acceso: 18/03/2021]; 56(6):713-7. Disponible en: https://doi.org/10.2169/internalmedicine.56.7654
35. Fugate J, Rabinstein A. Posterior reversible encephalopathy syndrome: clinical and radiological manifestations, pathophysiology, and outstanding questions. Lancet Neurol. 2015 [acceso: 18/03/2021]; 14(9):914-25. Disponible en: https://doi.org/10.1016/S1474-4422(15)00111-8
36. Chacko B, Culp M, Bloomer J, Phillips J, Kuo Y, Darley V, et al. Feasibility of cellular bioenergetics as a biomarker in porphyria patients. Mol Genet Metab Reports. 2019 [acceso: 18/03/2021]; 19:100451. Disponible en: https://doi.org/10.1016/j.ymgmr.2019.100451
37. Storjord E, Dahl JA, Landsem A, Fure H, Ludviksen JK, Goldbeck-Wood S, et al. Systemic inflammation in acute intermittent porphyria: a case-control study. Clin Exp Immunol. 2017 [acceso: 18/03/2021]; 187(3):466-79. Disponible en: https://doi.org/10.1111/cei.12899
38. Ollivier M, Bertrand A, Clarençon F, Gerber S, Deltour S, Domont F, et al. Neuroimaging features in posterior reversible encephalopathy syndrome: A pictorial review. J Neurol Sci. 2017 [acceso: 18/03/2021]; 373:188-200. Disponible en: https://doi.org/10.1016/j.jns.2016.12.007
39. Tchernitchko D, Tavernier Q, Lamoril J, Schmitt C, Talbi N, Lyoumi S, et al. A Variant of Peptide Transporter 2 Predicts the Severity of Porphyria-Associated Kidney Disease. J Am Soc Nephrol. 2017 [acceso: 18/03/2021]; 28(6):1924-32. Disponible en: https://doi.org/10.1681/ASN.2016080918
40. Sobin C, Flores M, Gutierrez M, Parisi N, Schaub T. δ-Aminolevulinic acid dehydratase single nucleotide polymorphism 2 (ALAD2) and peptide transporter 2*2 haplotype (hPEPT2*2) differently influence neurobehavior in low-level lead exposed children. Neurotoxicol Teratol. 2015 [acceso: 18/03/2021]; 47:137-45. Disponible en: https://doi.org/10.1016/j.ntt.2014.12.001
41. Shadel G, Horvath T. Mitochondrial ROS Signaling in Organismal Homeostasis. Cell. 2015 [acceso: 18/03/2021]; 163(3):560-9. Disponible en: https://doi.org/10.1016/j.cell.2015.10.001
42. Zhao X-Y, Lu M-H, Yuan D-J, Xu D-E, Yao P-P, Ji W-L, et al. Mitochondrial Dysfunction in Neural Injury. Front Neurosci. 2019 Feb 4 [acceso: 18/03/2021]; 13(30):1-14. Disponible en: https://doi.org/10.3389/fnins.2019.00030
43. Todorova V, Blokland A. Mitochondria and Synaptic Plasticity in the Mature and Aging Nervous System. Curr Neuropharmacol. 2016 [acceso: 18/03/2021]; 15(1):166-73. Disponible en: https://doi.org/10.2174/1570159X14666160414111821
44. Ludwig P, Thankam F, Patil A, Chamczuk A, Agrawal D. Brain injury and neural stem cells. Neural Regen Res. 2018 [acceso: 18/03/2021]; 13(1):7. Disponible en: https://doi.org/10.4103/1673-5374.224361
45. Pallet N, Mami I, Schmitt C, Karim Z, François A, Rabant M, et al. High prevalence of and potential mechanisms for chronic kidney disease in patients with acute intermittent porphyria. Kidney Int. 2015 [acceso: 18/03/2021]; 88(2):386-95. Disponible en: https://doi.org/10.1038/ki.2015.97
46. Blaylock B, Epstein J, Stickler P. Real-world annualized healthcare utilization and expenditures among insured US patients with acute intermittent porphyria (AIP) treated with hemin. J Med Econ. 2020 [acceso: 18/03/2021]; 23(6):537-45. Disponible en: https://doi.org/10.1080/13696998.2020.1724118
47. Herrera P, Vélez Van Meerbeke A, Bonnot O. Trastornos psiquiátricos secundarios a enfermedades neurometabólicas. Rev Colomb Psiquiatr. 2018 [acceso: 18/03/2021]; 47(4):244-51. Disponible en: https://doi.org/10.1016/j.rcp.2017.05.004
48. Silveira D, Bashir M, Daniel J, Lucena M, Bonpietro F. Acute intermittent porphyria presenting with posterior reversible encephalopathy syndrome and lateralized periodic discharges plus fast activity on EEG. Epilepsy Behav Case Reports. 2016 [acceso: 18/03/2021]; 6:58-60. Disponible en: https://doi.org/10.1016/j.ebcr.2016.08.004
49. Rivero E, Camacho J, Santos S, Tejero C. Cambios en la neuroimagen en paciente con síndrome de encefalopatía posterior reversible por porfiria aguda intermitente. Neurología. 2016 [acceso: 18/03/2021]; 31(8):580-3. Disponible en: https://doi.org/10.1016/j.nrl.2014.11.003
50. Guzman KJ, Suthar LA. Axonal Polyneuropathy in a Man Treated for Pulmonary Cocci: A Case of Acute Intermittent Porphyria. Am J Case Rep. 2019 [acceso: 18/03/2021]; 20:1378-81. Disponible en: https://doi.org/10.12659/AJCR.917134
51. Findley H, Philips A, Cole D, Nair A. Porphyrias: implications for anaesthesia, critical care, and pain medicine. Contin Educ Anaesth Crit Care Pain. 2012 [acceso: 18/03/2021]; 12(3):128-33. Disponible en: https://doi.org/10.1093/bjaceaccp/mks009
52. Zheng X, Liu X, Wang Y, Zhao R, Qu L, Pei H, et al. Acute intermittent porphyria presenting with seizures and posterior reversible encephalopathy syndrome. Medicine (Baltimore). 2018 [acceso: 18/03/2021]; 97(36):e11665. Disponible en: https://doi.org/10.1097/MD.0000000000011665
53. Yarra P, Faust D, Bennett M, Rudnick S, Bonkovsky H. Benefits of prophylactic heme therapy in severe acute intermittent porphyria. Mol Genet Metab Reports. 2019 [acceso: 18/03/2021]; 19:100450. Disponible en: https://doi.org/10.1016/j.ymgmr.2019.01.002
54. Dagens A, Gilhooley MJ. Acute intermittent porphyria leading to posterior reversible encephalopathy syndrome (PRES): a rare cause of abdominal pain and seizures. BMJ Case Rep. 2016 [acceso: 18/03/2021]; 2016: bcr2016215350. Disponible en: https://doi.org/10.1136/bcr-2016-215350
55. Algarín Lara H, Rodado Villa R, Maza Rosales MI, Osorio Rodríguez EL, Patiño Patiño JJ. Ataque agudo de porfiria posterior a cirugía de reemplazo valvular mitral: a propósito de caso. Acta Colomb Cuid Intensivo. 2020 [acceso: 18/03/2021]; [en prensa]. Disponible en: https://doi.org/10.1016/j.acci.2020.10.006
56. D'Avola D, López E, Sangro B, Pañeda A, Grossios N, Gil-Farina I, et al. Phase I open label liver-directed gene therapy clinical trial for acute intermittent porphyria. J Hepatol. 2016 [acceso: 18/03/2021]; 65(4):776-83. Disponible en: https://doi.org/10.1016/j.jhep.2016.05.012
57. Hu B, Weng Y, Xia X, Liang X, Huang Y. Clinical advances of siRNA therapeutics. J Gene Med. 2019 [acceso: 18/03/2021]; 21(7):1-14. Disponible en: https://doi.org/10.1002/jgm.3097
58. Chan A, Liebow A, Yasuda M, Gan L, Racie T, Maier M, et al. Preclinical Development of a Subcutaneous ALAS1 RNAi Therapeutic for Treatment of Hepatic Porphyrias Using Circulating RNA Quantification. Mol Ther - Nucleic Acids. 2015 [acceso: 18/03/2021]; 4(e263):1-9. Disponible en: https://doi.org/10.1038/mtna.2015.36
59. Kothadia JP, LaFreniere K, Shah JM. Acute Hepatic Porphyria. Treasure Island: StatPearls; 2020. [acceso: 18/03/2021]. Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/30725863
2. Barranco L, Montoya M, Herrera F. Porfiria aguda: Dilema diagnósticos y manifestaciones neuroendocrinas; a propósito de un caso. Acta Médica Colomb. 2017 [acceso: 18/03/2021]; 42(2):140-3. Disponible en: https://doi.org/10.36104/amc.2017.803
3. Kumar S, Bhalla A, Sharma N, Dhibar DP, Kumari S, Subhash V. Clinical, Biochemical Characteristics and Hospital Outcome of Acute Intermittent Porphyria Patients: A Descriptive Study from North India. Ann Indian Acad Neurol. 2017 [acceso: 18/03/2021]; 20(3):263-9. Disponible en: https://www.annalsofian.org/text.asp?2017/20/3/263/212728
4. Yang J, Chen Q, Yang H, Hua B, Zhu T, Zhao Y, et al. Clinical and Laboratory Features of Acute Porphyria: A Study of 36 Subjects in a Chinese Tertiary Referral Center. Biomed Res Int. 2016 [acceso: 18/03/2021]; 2006: [aprox. 5 pag.]. Disponible en: https://doi.org/10.1155/2016/3927635
5. Gonzalez L, Sonthalia S. Acute Intermittent Porphyria. Treasure Island: StatPearls; 2020. [acceso: 18/03/2021]. Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/31613445
6. Lovrić M. Porphyrias - diagnostic challenge in Emergency room. Signa Vitae - A J Intensive Care Emerg Med. 2015 [acceso: 18/03/2021]; 10(Suppl 1):87-8. Disponible en: https://doi.org/10.22514/SV101.062015.27
7. Stein P, Badminton M, Rees D. Update review of the acute porphyrias. Br J Haematol. 2017 [acceso: 18/03/2021]; 176(4): 527-38. Disponible en: https://doi.org/10.1111/bjh.14459
8. Pischik E, Kauppinen R. An update of clinical management of acute intermittent porphyria. Appl Clin Genet. 2015 [acceso: 18/03/2021]; 8(1):201. Disponible en: https://doi.org/10.2147/TACG.S48605
9. Agarwal V, Singhal N. Porphyria: An uncommon cause of posterior reversible encephalopathy syndrome. J Pediatr Neurosci. 2019 [acceso: 18/03/2021]; 14(3):137. Disponible en: https://doi.org/10.4103/jpn.JPN_17_19
10. Sardh E, Harper P, Balwani M, Stein P, Rees D, Bissell DM, et al. Phase 1 Trial of an RNA Interference Therapy for Acute Intermittent Porphyria. N Engl J Med. 2019 [acceso: 18/03/2021]; 380(6):549-58. Disponible en: https://doi.org/10.1056/NEJMoa1807838
11. Yasuda M, Erwin A, Liu L, Balwani M, Chen B, Kadirvel S, et al. Liver Transplantation for Acute Intermittent Porphyria: Biochemical and Pathologic Studies of the Explanted Liver. Mol Med. 2015 [acceso: 18/03/2021]; 21(1):487-95. Disponible en: https://doi.org/10.2119/molmed.2015.00099
12. APF. Porphyria. American Porphyria Foundation. 2020 [acceso: 05/07/2021]. Disponible en: https://porphyriafoundation.org/for-patients/about-porphyria/
13. Bustos J, Vargas L, Quintero R. Porfiria intermitente aguda: reporte de caso. Rev Biomédica. 2020 [acceso: 18/03/2021]; 40(1):1-15. Disponible en: https://doi.org/10.7705/biomedica.4767
14. Bonkovsky H, Dixon N, Rudnick S. Pathogenesis and clinical features of the acute hepatic porphyrias (AHPs). Mol Genet Metab. 2019 [acceso: 18/03/2021]; 128(3):213-8. Disponible en: https://doi.org/10.1016/j.ymgme.2019.03.002
15. Mejia J, Caballero D, Villanueva J, Dueñas C. Porfirias agudas: enfoque diagnóstico y terapéutico. Acta Colomb Cuid Intensivo. 2017 [acceso: 18/03/2021]; 17(4):276-94. Disponible en: https://doi.org/10.1016/j.acci.2017.10.002
16. Marsden J, Guppy S, Stein P, Cox T, 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 Reports. Berlin, Heidelberg: Springer; 2015. [acceso: 18/03/2021]. Disponible en: https://doi.org/10.1007/8904_2015_411
17. Herrero C, Badenas C, Aguilera P, To-Figueras J. Porfiria aguda intermitente: seguimiento a largo término de 35 pacientes. Med Clin (Barc). 2015 [acceso: 18/03/2021]; 145(8):332-7. Disponible en: https://doi.org/10.1016/j.medcli.2014.06.012
18. Chen B, Solis C, Hakenberg J, Qiao W, Srinivasan R, Yasuda M, et al. Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease. Hum Mutat. 2016 [acceso: 18/03/2021]; 37(11):1215-22. Disponible en: https://doi.org/10.1002/humu.23067
19. Indika N, Kesavan T, Dilanthi H, Jayasena K, Chandrasiri N, Jayasinghe I, et al. Many pitfalls in diagnosis of acute intermittent porphyria: a case report. BMC Res Notes. 2018 [acceso: 18/03/2021]; 11(1):552. Disponible en: https://doi.org/doi/10.1186/s13104-018-3615-z
20. Arora S, Young S, Kodali S, Singal A. Hepatic porphyria: A narrative review. Indian J Gastroenterol. 2016 [acceso: 18/03/2021]; 35(6):405-18. Disponible en: https://doi.org/10.1007/s12664-016-0698-0
21. Baravelli C, Aarsand A, Sandberg S, Tollånes M. Sick leave, disability, and mortality in acute hepatic porphyria: a nationwide cohort study. Orphanet J Rare Dis. 2020 [acceso: 18/03/2021];15(1):56. Disponible en: https://doi.org/10.1186/s13023-019-1273-4
22. Ramanujam S, Anderson KE. Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias. Curr Protoc Hum Genet. 2015 [acceso: 18/03/2021]; 86(1): [aprox. 6 pant.]. Disponible en: https://doi.org/10.1002/0471142905.hg1720s86
23. Maitra D, Cunha B, Elenbaas J, Bonkovsky H, Shavit J, Omary B. Porphyrin-Induced Protein Oxidation and Aggregation as a Mechanism of Porphyria-Associated Cell Injury. Cell Mol Gastroenterol Hepatol. 2019 [acceso: 18/03/2021]; 8(4):535-48. Disponible en: https://doi.org/10.1016/j.jcmgh.2019.06.006
24. de Paula Brandão PR, Titze-de-Almeida SS, Titze-de-Almeida R. Leading RNA Interference Therapeutics Part 2: Silencing Delta-Aminolevulinic Acid Synthase 1, with a Focus on Givosiran. Mol Diagn Ther. 2020 [acceso: 18/03/2021]; 24(1):61-8. Disponible en: https://doi.org/10.1007/s40291-019-00438-6
25. Stölzel U, Doss M, Schuppan D. Clinical Guide and Update on Porphyrias. Gastroenterology. 2019 [acceso: 18/03/2021]; 157(2):365-381.e4. Disponible en: https://doi.org/10.1053/j.gastro.2019.04.050
26. Wang B, Rudnick S, Cengia B, Bonkovsky H. Acute Hepatic Porphyrias: Review and Recent Progress. Hepatol Commun. 2019 [acceso: 18/03/2021]; 3(2):193-206. Disponible en: https://doi.org/10.1002/hep4.1297
27. Fortgens P, Pienaar E, Corrigall A, Sonderup M, Spearman CW, Meissner P. Molecular characterisation of acute intermittent porphyria in a cohort of South African patients and kinetic analysis of two expressed mutants. J Clin Pathol. 2017 [acceso: 18/03/2021]; 70(6):515-20. Disponible en: https://dx.doi.org/10.1136/jclinpath-2016-203907
28. Cuny J. Porfirias cutáneas. EMC - Dermatología. 2016 Mar [acceso: 18/03/2021]; 50(1):1-14. Disponible en: https://doi.org/10.1016/S1761-2896(16)76332-1
29. Baravelli CM, Aarsand AK, Sandberg S, Tollånes MC. Sick leave, disability, and mortality in acute hepatic porphyria: a nationwide cohort study. Orphanet J Rare Dis. 2020 [acceso: 18/03/2021]; 15(1):56. Disponible en: https://dx.doi.org/10.1186/s13023-019-1273-4
30. Erazo AF, Erazo MS, Zamora TO. Porfiria intermitente aguda como desencadenante de síndrome de Guillain-Barre. Rev la Fac Med. 2019 [acceso: 18/03/2021]; 67(2):349-55. Disponible en: https://doi.org/10.15446/revfacmed.v67n2.68373
31. Balwani M, Wang B, Anderson K, Bloomer J, Bissell M, Bonkovsky H, et al. Acute hepatic porphyrias: Recommendations for evaluation and long-term management. Hepatology. 2017 [acceso: 18/03/2021]; 66(4):1314-22. Disponible en: https://doi.org/10.1002/hep.29313
32. Jaramillo D, Solano J, Rabinstein A, Bonkovsky H. Porphyria-induced posterior reversible encephalopathy syndrome and central nervous system dysfunction. Mol Genet Metab. 2019 [acceso: 18/03/2021]; 128(3):242-53. Disponible en: https://doi.org/10.1016/j.ymgme.2019.10.011
33. Chiabrando D, Fiorito V, Petrillo S, Tolosano E. Unraveling the Role of Heme in Neurodegeneration. Front Neurosci. 2018 [acceso: 18/03/2021]; 12(712):1-14. Disponible en: https://doi.org/10.3389/fnins.2018.00712
34. Takata T, Kume K, Kokudo Y, Ikeda K, Kamada M, Touge T, et al. Acute Intermittent Porphyria Presenting with Posterior Reversible Encephalopathy Syndrome, Accompanied by Prolonged Vasoconstriction. Intern Med. 2017 [acceso: 18/03/2021]; 56(6):713-7. Disponible en: https://doi.org/10.2169/internalmedicine.56.7654
35. Fugate J, Rabinstein A. Posterior reversible encephalopathy syndrome: clinical and radiological manifestations, pathophysiology, and outstanding questions. Lancet Neurol. 2015 [acceso: 18/03/2021]; 14(9):914-25. Disponible en: https://doi.org/10.1016/S1474-4422(15)00111-8
36. Chacko B, Culp M, Bloomer J, Phillips J, Kuo Y, Darley V, et al. Feasibility of cellular bioenergetics as a biomarker in porphyria patients. Mol Genet Metab Reports. 2019 [acceso: 18/03/2021]; 19:100451. Disponible en: https://doi.org/10.1016/j.ymgmr.2019.100451
37. Storjord E, Dahl JA, Landsem A, Fure H, Ludviksen JK, Goldbeck-Wood S, et al. Systemic inflammation in acute intermittent porphyria: a case-control study. Clin Exp Immunol. 2017 [acceso: 18/03/2021]; 187(3):466-79. Disponible en: https://doi.org/10.1111/cei.12899
38. Ollivier M, Bertrand A, Clarençon F, Gerber S, Deltour S, Domont F, et al. Neuroimaging features in posterior reversible encephalopathy syndrome: A pictorial review. J Neurol Sci. 2017 [acceso: 18/03/2021]; 373:188-200. Disponible en: https://doi.org/10.1016/j.jns.2016.12.007
39. Tchernitchko D, Tavernier Q, Lamoril J, Schmitt C, Talbi N, Lyoumi S, et al. A Variant of Peptide Transporter 2 Predicts the Severity of Porphyria-Associated Kidney Disease. J Am Soc Nephrol. 2017 [acceso: 18/03/2021]; 28(6):1924-32. Disponible en: https://doi.org/10.1681/ASN.2016080918
40. Sobin C, Flores M, Gutierrez M, Parisi N, Schaub T. δ-Aminolevulinic acid dehydratase single nucleotide polymorphism 2 (ALAD2) and peptide transporter 2*2 haplotype (hPEPT2*2) differently influence neurobehavior in low-level lead exposed children. Neurotoxicol Teratol. 2015 [acceso: 18/03/2021]; 47:137-45. Disponible en: https://doi.org/10.1016/j.ntt.2014.12.001
41. Shadel G, Horvath T. Mitochondrial ROS Signaling in Organismal Homeostasis. Cell. 2015 [acceso: 18/03/2021]; 163(3):560-9. Disponible en: https://doi.org/10.1016/j.cell.2015.10.001
42. Zhao X-Y, Lu M-H, Yuan D-J, Xu D-E, Yao P-P, Ji W-L, et al. Mitochondrial Dysfunction in Neural Injury. Front Neurosci. 2019 Feb 4 [acceso: 18/03/2021]; 13(30):1-14. Disponible en: https://doi.org/10.3389/fnins.2019.00030
43. Todorova V, Blokland A. Mitochondria and Synaptic Plasticity in the Mature and Aging Nervous System. Curr Neuropharmacol. 2016 [acceso: 18/03/2021]; 15(1):166-73. Disponible en: https://doi.org/10.2174/1570159X14666160414111821
44. Ludwig P, Thankam F, Patil A, Chamczuk A, Agrawal D. Brain injury and neural stem cells. Neural Regen Res. 2018 [acceso: 18/03/2021]; 13(1):7. Disponible en: https://doi.org/10.4103/1673-5374.224361
45. Pallet N, Mami I, Schmitt C, Karim Z, François A, Rabant M, et al. High prevalence of and potential mechanisms for chronic kidney disease in patients with acute intermittent porphyria. Kidney Int. 2015 [acceso: 18/03/2021]; 88(2):386-95. Disponible en: https://doi.org/10.1038/ki.2015.97
46. Blaylock B, Epstein J, Stickler P. Real-world annualized healthcare utilization and expenditures among insured US patients with acute intermittent porphyria (AIP) treated with hemin. J Med Econ. 2020 [acceso: 18/03/2021]; 23(6):537-45. Disponible en: https://doi.org/10.1080/13696998.2020.1724118
47. Herrera P, Vélez Van Meerbeke A, Bonnot O. Trastornos psiquiátricos secundarios a enfermedades neurometabólicas. Rev Colomb Psiquiatr. 2018 [acceso: 18/03/2021]; 47(4):244-51. Disponible en: https://doi.org/10.1016/j.rcp.2017.05.004
48. Silveira D, Bashir M, Daniel J, Lucena M, Bonpietro F. Acute intermittent porphyria presenting with posterior reversible encephalopathy syndrome and lateralized periodic discharges plus fast activity on EEG. Epilepsy Behav Case Reports. 2016 [acceso: 18/03/2021]; 6:58-60. Disponible en: https://doi.org/10.1016/j.ebcr.2016.08.004
49. Rivero E, Camacho J, Santos S, Tejero C. Cambios en la neuroimagen en paciente con síndrome de encefalopatía posterior reversible por porfiria aguda intermitente. Neurología. 2016 [acceso: 18/03/2021]; 31(8):580-3. Disponible en: https://doi.org/10.1016/j.nrl.2014.11.003
50. Guzman KJ, Suthar LA. Axonal Polyneuropathy in a Man Treated for Pulmonary Cocci: A Case of Acute Intermittent Porphyria. Am J Case Rep. 2019 [acceso: 18/03/2021]; 20:1378-81. Disponible en: https://doi.org/10.12659/AJCR.917134
51. Findley H, Philips A, Cole D, Nair A. Porphyrias: implications for anaesthesia, critical care, and pain medicine. Contin Educ Anaesth Crit Care Pain. 2012 [acceso: 18/03/2021]; 12(3):128-33. Disponible en: https://doi.org/10.1093/bjaceaccp/mks009
52. Zheng X, Liu X, Wang Y, Zhao R, Qu L, Pei H, et al. Acute intermittent porphyria presenting with seizures and posterior reversible encephalopathy syndrome. Medicine (Baltimore). 2018 [acceso: 18/03/2021]; 97(36):e11665. Disponible en: https://doi.org/10.1097/MD.0000000000011665
53. Yarra P, Faust D, Bennett M, Rudnick S, Bonkovsky H. Benefits of prophylactic heme therapy in severe acute intermittent porphyria. Mol Genet Metab Reports. 2019 [acceso: 18/03/2021]; 19:100450. Disponible en: https://doi.org/10.1016/j.ymgmr.2019.01.002
54. Dagens A, Gilhooley MJ. Acute intermittent porphyria leading to posterior reversible encephalopathy syndrome (PRES): a rare cause of abdominal pain and seizures. BMJ Case Rep. 2016 [acceso: 18/03/2021]; 2016: bcr2016215350. Disponible en: https://doi.org/10.1136/bcr-2016-215350
55. Algarín Lara H, Rodado Villa R, Maza Rosales MI, Osorio Rodríguez EL, Patiño Patiño JJ. Ataque agudo de porfiria posterior a cirugía de reemplazo valvular mitral: a propósito de caso. Acta Colomb Cuid Intensivo. 2020 [acceso: 18/03/2021]; [en prensa]. Disponible en: https://doi.org/10.1016/j.acci.2020.10.006
56. D'Avola D, López E, Sangro B, Pañeda A, Grossios N, Gil-Farina I, et al. Phase I open label liver-directed gene therapy clinical trial for acute intermittent porphyria. J Hepatol. 2016 [acceso: 18/03/2021]; 65(4):776-83. Disponible en: https://doi.org/10.1016/j.jhep.2016.05.012
57. Hu B, Weng Y, Xia X, Liang X, Huang Y. Clinical advances of siRNA therapeutics. J Gene Med. 2019 [acceso: 18/03/2021]; 21(7):1-14. Disponible en: https://doi.org/10.1002/jgm.3097
58. Chan A, Liebow A, Yasuda M, Gan L, Racie T, Maier M, et al. Preclinical Development of a Subcutaneous ALAS1 RNAi Therapeutic for Treatment of Hepatic Porphyrias Using Circulating RNA Quantification. Mol Ther - Nucleic Acids. 2015 [acceso: 18/03/2021]; 4(e263):1-9. Disponible en: https://doi.org/10.1038/mtna.2015.36
59. Kothadia JP, LaFreniere K, Shah JM. Acute Hepatic Porphyria. Treasure Island: StatPearls; 2020. [acceso: 18/03/2021]. Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/30725863
Published
2021-12-03
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Algarín Lara HR, Osorio Rodríguez EL, Patiño Patiño JJ, Tavera Medina AP, Guevara Romero E. Diagnostic and therapeutic alternatives for acute hepatic porphyrias in adults from a current perspective. Rev Cubana Med Milit [Internet]. 2021 Dec. 3 [cited 2025 Apr. 13];50(4):e02101353. Available from: https://revmedmilitar.sld.cu/index.php/mil/article/view/1353
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