急性间歇性卟啉病

Phillips JD, Anderson KE. The porphyrias (Chapter 58). In: Kaushansky K, Lichtman MA, Beutler E, Kipps TJ, Seligson U, Prchal JT, eds. Williams Hematology, 9th edition. New York: McGraw-Hill, 2016: 889-914.

Anderson KE, Bloomer JR, Bonkovsky HL, et al. Recommendations for the diagnosis and treatment of the acute porphyrias. Ann Intern Med. 2005;142:439-450.

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Deacon AC, Peters TJ. Identification of acute porphyria: evaluation of a commercial screening test for urinary porphobilinogen. Ann Clin Biochem. 1998;35:726-732.

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Anderson KE, Bonkovsky HL, Bloomer JR, et al. Reconstitution of hematin for intravenous infusion. Ann Intern Med. 2006;144:537-538.

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Jeans JB, Savik K, Gross CR, et al. Mortality in patients with acute intermittent porphyria requiring hospitalization: a United States case series. Am J Med Genet. 1996;11:269-273.

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Andant C, Puy H, Bogard C, et al. Hepatocellular carcinoma in patients with acute hepatic porphyria: frequency of occurrence and related factors. J Hepatol. 2000;32:933-939.

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1.  Solis C, Martinez-Bermejo A, Naidich TP, et al. Acute intermittent porphyria: studies of the severe homozygous dominant disease provides insights into the neurologic attacks in acute porphyrias. Arch Neurol. 2004;61:1764-1770.

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2.  Phillips JD, Anderson KE. The porphyrias (Chapter 58). In: Kaushansky K, Lichtman MA, Beutler E, Kipps TJ, Seligson U, Prchal JT, eds. Williams Hematology, 9th edition. New York: McGraw-Hill, 2016: 889-914.

3.  Anderson KE, Bloomer JR, Bonkovsky HL, et al. Recommendations for the diagnosis and treatment of the acute porphyrias. Ann Intern Med. 2005;142:439-450.

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4.  Grandchamp B, Picat C, Mignotte V, et al. Tissue-specific splicing mutation in acute intermittent porphyria. Proc Natl Acad Sci USA. 1989;86:661-664.

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5.  Welland FH, Hellman ES, Gaddis EM, et al. Factors affecting the excretion of porphyrin precursors by patients with acute intermittent porphyria. 1. The effect of diet. Metabolism. 1964;13:232-250.

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6.  Bonkowsky HL, Collins A, Doherty JM, et al. The glucose effect in rat liver: studies of δ-aminolevulinate synthetase and tyrosine aminotransferase. Biochim Biophys Acta. 1973;320:561-576.

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7.  Handschin C, Lin J, Rhee J, et al. Nutritional regulation of hepatic heme biosynthesis and porphyria through PGC-1alpha. Cell. 2005;122:505-515.

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8.  Anderson KE, Spitz IM, Bardin CW, et al. A GnRH analogue prevents cyclical attacks of porphyria. Arch Int Med. 1990;150:1469-1474.

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9.  Lip GYH, McColl KEL, Goldberg A, et al. Smoking and recurrent attacks of acute intermittent porphyria. Br Med J. 1991;302:507.

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10.  Mustajoki P, Heinonen J. General anesthesia in "inducible" porphyrias. Anesthesiology. 1980;53:15-20.

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11.  Marsden JT, Guppy S, Stein P, 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.

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12.  Bonkovsky HL, Maddukuri VC, Yazici C, et al. Acute porphyrias in the USA: features of 108 subjects from porphyrias consortium. Am J Med. 2014;127:1233-1241.

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13.  Deacon AC, Peters TJ. Identification of acute porphyria: evaluation of a commercial screening test for urinary porphobilinogen. Ann Clin Biochem. 1998;35:726-732.

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14.  Blake D, McManus J, Cronin V, et al. Fecal coproporphyrin isomers in hereditary coproporphyria. Clin Chem. 1992;38:96-100.

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15.  Anderson KE, Sassa S, Peterson CM, et al. Increased erythrocyte uroporphyrinogen-I-synthetase, γ-aminolevulinic acid dehydratase and protoporphyrin in hemolytic anemias. Am J Med. 1977;63:359-364.

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16.  Akagi R, Kato N, Inoue R, et al. Gamma-aminolevulinate dehydratase (ALAD) porphyria: the first case in North America with two novel ALAD mutations. Mol Genet Metab. 2006;87:329-336.

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17.  Poh-Fitzpatrick MB. A plasma porphyrin fluorescence marker for variegate porphyria. Arch Dermatol. 1980 May;116(5):543-7.

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18.  Hift RJ, Davidson BP, Van der Hooft C, et al. Plasma fluorescence scanning and fecal porphyrin analysis for the diagnosis of variegate porphyria: precise determination of sensitivity and specificity with detection of protoporphyrinogen oxidase mutations as a reference standard. Clin Chem. 2004 May;50(5):915-23.

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19.  Anderson KE, Bonkovsky HL, Bloomer JR, et al. Reconstitution of hematin for intravenous infusion. Ann Intern Med. 2006;144:537-538.

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20.  Schulenburg-Brand D, Gardiner T, Guppy S, et al. An audit of the use of gonadorelin analogues to prevent recurrent acute symptoms in patients with acute porphyria in the United Kingdom. JIMD Rep. 2017;36:99-107.

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21.  Soonawalla ZF, Orug T, Badminton MN, et al. Liver transplantation as a cure for acute intermittent porphyria. Lancet. 2004;363:705-706.

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22.  Seth AK, Badminton MN, Mirza D, et al. Liver transplantation for porphyria: who, when, and how? Liver Transpl. 2007;13:1219-1227.

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23.  Dowman JK, Gunson BK, Mirza DF, et al. LT-11-056 liver transplantation for acute intermittent porphyria is complicated by a high rate of hepatic artery thrombosis. Liver Transpl. 2012;18:195-200.

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24.  Sardh E, Rejkjaer L, Harper P, et al. First clinical trial of i.v. rhPBGD in healthy subjects with and without diagnosed manifest acute intermittent porphyria (AIP). Physiol Res. 2003;52(suppl):23S.

25.  Horie Y, Tanaka K, Okano J, et al. Cimetidine in the treatment of porphyria cutanea tarda. Intern Med. 1996;35:717-719.

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26.  Cherem JH, Malagon J, Nellen H. Cimetidine and acute intermittent porphyria. Ann Intern Med. 2005;143:694-695.

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27.  Jeans JB, Savik K, Gross CR, et al. Mortality in patients with acute intermittent porphyria requiring hospitalization: a United States case series. Am J Med Genet. 1996;11:269-273.

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28.  Church SE, McColl KE, Moore MR, et al. Hypertension and renal impairment as complications of acute porphyria. Nephrol Dial Transplant. 1992;7:986-990.

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29.  Tchernitchko D, Tavernier Q, Lamoril J, et al. A variant of peptide transporter 2 predicts the severity of porphyria-associated kidney disease. J Am Soc Nephrol. 2017 Jun;28(6):1924-1932.

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30.  Sardh E, Andersson DE, Henrichson A, et al. 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;55:66-71.

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31.  Nunez DJ, Williams PF, Herrick AL, et al. Renal transplantation for chronic renal failure in acute porphyria. Nephrol Dial Transplant. 1987;2:271-274.

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32.  Wahlin S, Harper P, Sardh E, et al. Combined liver and kidney transplantation in acute intermittent porphyria. Transpl Int. 2010;23:e18-e21.

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33.  Andant C, Puy H, Bogard C, et al. Hepatocellular carcinoma in patients with acute hepatic porphyria: frequency of occurrence and related factors. J Hepatol. 2000;32:933-939.

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