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Therapeutics and Clinical Risk Management Volume 15, 2019 - Issue
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Review

Acute Intermittent Porphyria: Current Perspectives And Case Presentation

Zachary Spiritos1 Department of Medicine, Division of Gastroenterology, Duke University School of Medicine, Durham, NC, USA
,
Shakirat Salvador2 Department of Medicine, Division of Gastroenterology, Vanderbilt University Medical Center, Nashville, TN, USA
,
Diana Mosquera3 Department of Medicine, Duke University School of Medicine, Durham, NC, USA
&
Julius Wilder1 Department of Medicine, Division of Gastroenterology, Duke University School of Medicine, Durham, NC, USA;4 Department of Medicine, Duke Clinical Research Institute, Durham, NC, USACorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0001-7962-2053
ORCID Icon
Pages 1443-1451 | Published online: 16 Dec 2019

References

  • Ramanujam VM, Anderson KE. Porphyria diagnostics-part 1: a brief overview of the porphyrias. Curr Protoc Hum Genet. 2015;86:17.20.1–26.
  • Lee J, Anvret M. Identification of the most common mutation within the porphobilinogen deaminase gene in swedish patients with acute intermittent porphyria. Proc Natl Acad Sci USA. 1991;88(23):10912–10915. doi:10.1073/pnas.88.23.109121961762
  • Sassa S. Modern diagnosis and management of the porphyrias. Br J Haematol. 2006;135:281–292. doi:10.1111/j.1365-2141.2006.06289.x16956347
  • Besur S, Hou W, Schmeltzer P, Bonkovsky LH. Clinically important features of porphyrin and heme metabolism and the porphyrias. Metabolites. 2014;4(4):977–1006. doi:10.3390/metabo404097725372274
  • Stein PE, Badminton MNRees DC. Update review of the acute porphyrias. Br J Haematol. 2017;176(4):527–538. doi: 10.1111/bjh27982422
  • Szlendak U, Bykowska K, Lipniacka A. Clinical, biochemical and molecular characteristics of the main types of porphyria. Adv Clin Exp Med. 2016;25(2):361–368. doi:10.17219/acem/5895527627571
  • Puy H, Gouya L, Deybach J. Porphyrias. The Lancet. 2010;375(9718):924–937. doi:10.1016/S0140-6736(09)61925-5
  • Floderus Y, Sardh E, Möller C, et al. Variations in porphobilinogen and 5-aminolevulinic acid concentrations in plasma and urine from asymptomatic carriers of the acute intermittent porphyria gene with increased porphyrin precursor excretion. Clin Chem. 2006;52(4):701. doi:10.1373/clinchem.2006.07388216497943
  • Balwani M, Wang B, Anderson KE, et al. Acute hepatic porphyrias: recommendations for evaluation and long-term management. Hepatology (Baltimore, Md). 2017;66:1314–1322. doi:10.1002/hep.29313
  • Whatley SD, Badminton MN. Acute intermittent porphyria In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews((R)). Seattle: University of Washington, Seattle University of Washington GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.; 1993.
  • Sassa S. Diagnosis and therapy of acute intermittent porphyria. Blood Rev. 1996;10:53–58.8861279
  • Balwani M, Desnick RJ. The porphyrias: advances in diagnosis and treatment. ASH Educ Prog Book. 2012;120:4496–5504.
  • Farfaras A, Zaqouri F, Zografos G, Kostopoulou A, Sergentanis TN, Antoniou S. Acute intermittent porphyria in pregnancy: a common misdiagnosis. Clin Exp Obstetr Gynecol. 2010;37(4):256–260.
  • Ajayi T, Ward R, Summers B, et al. Pathophysiology, pharmacology and treatment of acute intermittent porphyria: a patient case description and recommendations from the current literature. J Explor Res Pharmacol. 2017;2:49–53. doi:10.14218/JERP.2016.00022
  • Tracy JA, Dyck PJ. Porphyria and its neurologic manifestations. Handb Clin Neurol. 2014;120:839–849. doi:10.1016/B978-0-7020-4087-0.00056-524365356
  • Thunell S, Pomp E, Brun A. Guide to drug porphyrogenicity prediction and drug prescription in the acute porphyrias. Br J Clin Pharmacol. 2007;64(5):668–679. doi:10.1111/j.0306-5251.2007.02955.x17578481
  • Singal A, Parker C, Bowden C, Thapar M, Lawrence L, McGuire BM. Liver transplantation in the management of porphyria. Hepatology. 2014;60(3):1082–1089. doi:10.1002/hep.2708624700519
  • Seth AK, Badminton MN, Mirza D, Russell S, Elias E. Liver transplantation for porphyria: who, when, and how? Liver Transpl. 2007;13(9):1219–1227. doi:10.1002/lt.2126117763398
  • Pischik E, Kauppinen R. An update of clinical management of acute intermittent porphyria. Appl Clin Genet. 2015;1(8):201–214. doi:10.2147/TACG.S48605
  • Soonawakka ZF, Orug T, Badminton MN, et al. Liver transplantation as a cure for acute intermittent porphyria. The Lancet. 2004;363(9410):705–706. doi:10.1016/S0140-6736(04)15646-8
  • Sardh E, Harper P, Balwani M, et al. Phase 1 trial of an rna interference therapy for acute intermittent porphyria. N Engl J Med. 2019;380(6):549–558. doi:10.1056/NEJMoa180783830726693
  • D’Avola D, López-Franco E, Sangro B, et al. Phase I open label liver-directed gene therapy clinical trial for acute intermittent porphyria. J Hepatol. 2016;65:776–783. doi:10.1016/j.jhep.2016.05.01227212246
  • Puy H, Deybach JC, Lamoril J, et al. Molecular epidemiology and diagnosis of pbg deaminase gene defects in acute intermittent porphyria. Am J Hum Genet. 1997;60(6):1373–1383. doi:10.1086/5154559199558
  • Kappus MR, Summers BB, Byrns JS, Berg CL, Wilder JM. Liver transplantation for the management of acute intermittent porphyria: a case report. J Hepatol Gastroint Dis. 2017;3:141. doi:10.4172/2475-3181

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