Acute Porphyrias

Journal of Emergency Medicine

Volumn 49, Issue 3, 2015, Pages 305-312

  Besur, Siddesh ^a   Schmeltzer, Paul ^a,b   Bonkovsky, Herbert L ^c,d  

^a LEVINE CANCER INSTITUTE   (United States)

^b WAKE FOREST SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF CONNECTICUT   (United States)

^d UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

Author keywords

abdominal pain; acute porphyria; autosomal dominant; haem metabolism; Panhematin

Indexed keywords

AMINOLEVULINIC ACID; GLUCOSE; HEME; PORPHOBILINOGEN SYNTHASE;

ABDOMINAL PAIN; ACUTE INTERMITTENT PORPHYRIA; ARTICLE; BACKACHE; CLINICAL EVALUATION; CLINICAL FEATURE; COPROPORPHYRIA; ENZYME DEFECT; EPIDEMIOLOGICAL DATA; HEME SYNTHESIS; HEPATIC PORPHYRIA; HUMAN; HYPOMAGNESEMIA; HYPONATREMIA; LABORATORY TEST; LEG PAIN; MANAGED CARE; PATHOGENESIS; PORPHYRIA CUTANEA TARDA; PORPHYRIA VARIEGATA; PRIMARY PREVENTION; PRIORITY JOURNAL; PROGNOSIS; RISK FACTOR; SEIZURE; THORAX PAIN; ACUTE DISEASE; DIFFERENTIAL DIAGNOSIS; PORPHYRIAS;

ACUTE DISEASE; DIAGNOSIS, DIFFERENTIAL; HUMANS; PORPHYRIAS; PROGNOSIS; RISK FACTORS;

EID: 84955205987     PISSN: 07364679     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jemermed.2015.04.034     Document Type: Article

References (33)

1. R. Schmidt, S. Schwartz, C.J. Watson Porphyrin content of bone marrow and liver in the various forms of porphyria AMA Arch Intern Med 93 1954 167 190
2. D.J. Fraser, M. Podvinec, M.R. Kaufmann, U.A. Meyer Drugs mediate the transcriptional activation of the 5-aminolevulinic acid synthase (ALAS1) gene via the chicken xenobiotic-sensing nuclear receptor (CXR) J Biol Chem 277 2002 34717 34726
3. S. Kolluri, T.J. Sadlon, B.K. May, H.L. Bonkovsky Haem repression of the housekeeping 5-aminolaevulinic acid synthase gene in the hepatoma cell line LMH Biochem J 392 Pt 1 2005 173 180
4. J.W. Hamilton, W.J. Bement, P.R. Sinclair, J.F. Sinclair, J.A. Alcedo, K.E. Wetterhahn Heme regulates hepatic 5-aminolevulinate synthase mRNA expression by decreasing mRNA half-life and not by altering its rate of transcription Arch Biochem Biophys 289 1991 387 392
5. S. Taketani Acquisition, mobilization and utilization of cellular iron and heme: Endless findings and growing evidence of tight regulation Tohoku J Exp Med 205 2005 297 318
6. H.L. Bonkovsky, J.T. Guo, W. Hou et al. Porphyrin and heme metabolism and the porphyrias Compr Physiol 3 2013 365 401
7. H. Puy, L. Gouya, J.C. Deybach Porphyrias Lancet 375 2010 924 937
8. R. Kauppinen, P. Mustajoki Prognosis of acute porphyria: occurrence of acute attacks, precipitating factors, and associated diseases Medicine (Baltimore) 71 1992 1 13
9. J. Waldenstrom The porphyrias as inborn errors of metabolism Am J Med 22 1957 758 773
10. D.P. Tschudy, M. Valsamis, C.R. Magnussen Acute intermittent porphyria: clinical and selected research aspects Ann Intern Med 83 1975 851 864
11. K.E. Anderson, H.L. Bonkovsky, J.R. Bloomer, S.I. Shedlofsky Reconstitution of hematin for intravenous infusion Ann Intern Med 144 2006 537 538
12. K.E. Anderson, J.R. Bloomer, H.L. Bonkovsky, J.P. Kushner, C.A. Pierach, N.R. Pimstone, R.J. Desnick Recommendations for the diagnosis and treatment of the acute porphyrias Ann Intern Med 142 6 2005 439 450
13. A. Goldberg Acute intermittent porphyria: a study of 50 cases Q J Med 28 1959 183 209
14. P. Mustajoki, P. Koskelo Hereditary hepatic porphyrias in Finland Acta Med Scand 200 1976 171 178
15. Y. Nordmann, H. Puy Human hereditary hepatic porphyrias Clin Chim Acta 325 2002 17 37
16. J.R. Bloomer, H.L. Bonkovsky The porphyrias Dis Mon 35 1989 1 54
17. E. Sardh, D.E. Andersson, A. Henrichson, P. Harper 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) 55 2009 66 71
18. A.C. Deacon, T.J. Peters Identification of acute porphyria: evaluation of a commercial screening test for urinary porphobilinogen Ann Clin Biochem 35 Pt 6 1998 726 732
19. H.L. Bonkovsky Porphyrin and heme metabolism and the porphyrias D. Zakim T. Boyer Hepatology: a textbook of liver disease 2nd edn. 1990 Saunders Philadelphia 378 384
20. H.L. Bonkovsky, G.F. Barnard Diagnosis of porphyric syndromes: a practical approach in the era of molecular biology Semin Liver Dis 18 1998 57 65
21. M. Hahn, H.L. Bonkovsky Disorders of porphyrin metabolism G. Wu J. Israel Diseases of the liver and bile ducts: a practical guide to diagnosis and treatment 1st edn. 1998 Humana Press Totowa, NJ 249 272
22. H.L. Bonkovsky, J.F. Healey, A.N. Lourie, G.G. Gerron Intravenous heme-albumin in acute intermittent porphyria: evidence for repletion of hepatic hemoproteins and regulatory heme pools Am J Gastroenterol 86 1991 1050 1056
23. H.L. Bonkovsky, V.C. Maddukuri, C. Yazici et al. Acute porphyrias in the USA: features of 108 subjects from porphyria consortium Am J Med 127 2014 1233 1241
24. J.T. Marsden, S. Guppy, P. Stein et al. Audit of the use of regular haem arginate infusions in patients with acute porphyria to prevent recurrent symptoms JIMD Rep 2015 Mar 12 [Epub ahead of print]
25. F.S. Dar, K. Asai, A.R. Haque, T. Cherian, M. Rela, N. Heaton Liver transplantation for acute intermittent porphyria: a viable treatment? Hepatobiliary Pancreat Dis Int 9 2010 93 96
26. A.K. Seth, M.N. Badminton, D. Mirza, S. Russell, E. Elias Liver transplantation for porphyria: who, when, and how? Liver Transpl 13 2007 1219 1227
27. S. Wahlin, P. Harper, E. Sardh, C. Andersson, D.E. Andersson, B.G. Ericzon Combined liver and kidney transplantation in acute intermittent porphyria Transpl Int 23 2010 e18 e21
28. K.E. Anderson, I.M. Spitz, C.W. Bardin, A. Kappas A gonadotropin releasing hormone analogue prevents cyclical attacks of porphyria Arch Intern Med 150 1990 1469 1474
29. C.E. De Block, I.H. Leeuw, L.F. Gaal Premenstrual attacks of acute intermittent porphyria: hormonal and metabolic aspects - a case report Eur J Endocrinol 141 1999 50 54
30. I. Yamamori, M. Asai, F. Tanaka, A. Muramoto, H. Hasegawa Prevention of premenstrual exacerbation of hereditary coproporphyria by gonadotropin-releasing hormone analogue Intern Med 38 1999 365 368
31. M.S. Linet, G. Gridley, O. Nyren et al. Primary liver cancer, other malignancies, and mortality risks following porphyria: a cohort study in Denmark and Sweden Am J Epidemiol 149 1999 1010 1015
32. C. Andant, H. Puy, C. Bogard et al. Hepatocellular carcinoma in patients with acute hepatic porphyria: frequency of occurrence and related factors J Hepatol 32 2000 933 939
33. C. Andersson, L. Bjersing, F. Lithner The epidemiology of hepatocellular carcinoma in patients with acute intermittent porphyria J Intern Med 240 1996 195 201