Porphyrin precursors and porphyrins in three patients with acute intermittent porphyria and end-stage renal disease under different therapy regimes

Cellular and Molecular Biology

Volumn 55, Issue 1, 2009, Pages 66-71

  Sardh, E ^a,b   Andersson, D E H ^a   Henrichson, A ^b   Harper, P ^b  

^a STOCKHOLM SÖDER HOSPITAL   (Sweden)

^b KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

5 aminolevulinic acid (ALA); Acute intermittent porphyria (AIP); Endstage renal disease (ESRD); Hemodialysis; Peritoneal dialysis; Porphobilinogen (PBG); Porphyrins

Indexed keywords

AMINOLEVULINIC ACID; HEME ARGINATE; IRON; PORPHOBILINOGEN; PORPHOBILINOGEN DEAMINASE; PORPHYRIN DERIVATIVE; RECOMBINANT ERYTHROPOIETIN;

ACUTE INTERMITTENT PORPHYRIA; ADULT; ANAMNESIS; ARTICLE; BLOOD ANALYSIS; BLOOD LEVEL; CASE REPORT; CLINICAL FEATURE; DIALYSIS MEMBRANE; DISEASE COURSE; FEMALE; GENE MUTATION; HEMODIALYSIS; HUMAN; KIDNEY FAILURE; KIDNEY FUNCTION; PERIPHERAL NEUROPATHY; PERITONEAL DIALYSIS; PORPHYRIA CUTANEA TARDA; RECURRENT DISEASE; SKIN DEFECT; URINALYSIS; URINE LEVEL;

ADULT; AMINOLEVULINIC ACID; FEMALE; HUMANS; KIDNEY FAILURE, CHRONIC; MIDDLE AGED; PERITONEAL DIALYSIS; PORPHOBILINOGEN; PORPHYRIA, ACUTE INTERMITTENT; PORPHYRINS; RENAL DIALYSIS;

EID: 67449147378     PISSN: 01455680     EISSN: 1165158X     Source Type: Journal    
DOI: 10.1170/T840     Document Type: Article

References (28)

1. Anderson KE, Sassa S, Bishop DF, and Desnick RJ. Disorders of Heme Biosynthesis: X-Linked Sideroblastic Anemia and the Porphyrias. In: The Metabolic and Molecular Bases of Inherited Disease, edited by Scriver CR, Beaudet AL, Sly WS, and Valle D. New York: McGraw-Hill, 2001, p. 2991-3062.
2. Andersson C, and Lithner F. Hypertension and renal disease in patients with acute intermittent porphyria. Journal of Internal Medicine 236: 169-175, 1994. (Pubitemid 24246973)
3. Bandyopadhyay M, Gupta BK, Panwar RB, Kabra PK, Kaushik AN, and Chadda VS. A study of 24-hour ambulatory blood pressure monitoring in cases of intermittent acute porphyria with hypertension: special reference to safety and efficacy of angiotensin-converting enzyme inhibitor (enalapril) therapy. Indian Heart Journal 54: 734, 2002. (Pubitemid 36362973)
4. Bjersing L, Andersson C, and Lithner F. Hepatocellular carcinoma in patients from Northern Sweden with acute intermittent porphyria: Morphology and mutations. Cancer Epidemiology, Biomarkers and Prevention 5: 393-397, 1996. (Pubitemid 26139123)
5. Carson RW, Dunnigan EJ, DuBose TD, Goeger DE, and Anderson KE. Removal of plasma porphyrins with high-flux hemodialysis in porphyria cutanea tarda associated with end-stage renal disease. Journal of the American Society of Nephrology 2: 1445-1450, 1992.
6. Church SE, McColl KEL, Moore MR, and Youngs GR. Hypertension and renal impairment as complications of acute porphyria. Nephrology, Dialysis, Transplantation 7: 986-990, 1992.
7. Day RS, Eales L, and Disler PB. Porphyrins and the kidney. Nephron 28: 261-267, 1981.
8. Demirci G, Becker T, Nyibata M, Lueck R, Bektas H, Lehner F, Tusch G, Strassburg C, Schwarz A, Klempnauer J, and Nashan B. Results of combined and sequential liver-kidney transplantation. Liver Transpl 9: 1067-1078., 2003. (Pubitemid 37304463)
9. Floderus Y, Sardh E, Moller C, Andersson C, Rejkjaer L, Andersson DE, and Harper P. 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 52: 701-707, 2006.
10. Lim CK, Li F, and Peters TJ. High-performance liquid chromatography of uroporphyrinogen and coproporphyrinogen isomers with amperometric detection. Biochemical Journal 234: 629-633, 1986. (Pubitemid 16028388)
11. Mauzerall D, and Granick S. The occurrence and determination of delta-aminolevulinic acid and porphobilinogen in urine. J Biol Chem 219: 435-446, 1956.
12. Meyer UA, Schuurmans MM, and Lindberg RL. Acute porphyrias: pathogenesis of neurological manifestations. Seminars in Liver Disease 18: 43-52, 1998. (Pubitemid 28133442)
13. Miyagi K, Cardinal R, Bossenmaier I, and Watson CJ. The serum porphobilinogen and hepatic porphobilinogen deaminase in normal and porphyric individuals. Journal of Laboratory and Clinical Medicine 78: 683-695, 1971.
14. Mustajoki P, Tenhunen R, Tokola O, and Gothoni G. Haem arginate in the treatment of acute hepatic porphyrias. Br Med J 293: 538-539, 1986. (Pubitemid 16051197)
15. Nunez DJ, Williams PF, Herrick AL, Evans DB, and McColl KEL. Renal transplantation for chronic renal failure in acute porphyria. Nephrology, Dialysis, Transplantation 2: 271-274, 1987.
16. O'Mahoney D, and Wathen CG. Hypertension in porphyria-an understated problem. Quarterly Journal of Medicine 89: 161-164, 1996.
17. Onozato ML, Tojo A, Kamijo A, Taniguchi S, Kimura K, Goto A, and Fujita T. Tubulointerstitial nephritis associated with acute intermittent porphyria. Clinical Nephrology 55: 171-174, 2001. (Pubitemid 32151007)
18. Shoolingin-Jordan PM, Al-Dbass A, McNeill LA, Sarwar M, and Butler D. Human porphobilinogen deaminase mutations in the investigation of the mechanism of dipyrromethane cofactor assembly and tetrapyrrole formation. Biochemical Society Transactions 31: 731-735, 2003. (Pubitemid 36750768)
19. Shoolingin-Jordan PM, and McNeill LA. Molecular changes in porphobilinogen deaminase in AIP. Physiological Research 52: 24S, 2003.
20. Soonawalla ZF, Orug T, Badminton MN, Elder GH, Rhodes JM, Bramhall SR, and Elias E. Liver transplantation as a cure for acute intermittent porphyria. Lancet 363: 705-706, 2004. (Pubitemid 38296559)
21. Thunell S. Porphyrins, porphyrin metabolism and porphyrias. I. Update. Scandinavian Journal of Clinical and Laboratory Investigation 60: 509-540, 2000. (Pubitemid 32052515)
22. Thunell S, Andersson C, Carlmark B, Floderus Y, Grönqvist SO, Harper P, Henrichson A, and Lindh U. Markers for vulnerability in acute porphyria. A hypothesis paper. European Journal of Clinical Chemistry and Clinical Biochemistry 33: 179-194, 1995.
23. Thunell S, Harper P, Brock A, and Petersen NE. Porphyrins, porphyrin metabolism and porphyrias. II. Diagnosis and monitoring in the acute porphyrias. Scandinavian Journal of Clinical and Laboratory Investigation 60: 541-559, 2000. (Pubitemid 32052516)
24. Tracz MJ, Alam J, and Nath KA. Physiology and pathophysiology of heme: implications for kidney disease. J Am Soc Nephrol 18: 414-420. Epub 2007 Jan 2017., 2007. (Pubitemid 46193307)
25. ™ NKFK. http://www.kidney.org. Accessed May 13, 2008.
26. Warholm C, and Wilczek H. Renal transplantation in a case of acute intermittent porphyria. Journal of Clinical Pharmacology 43: 1158-1160, 2003. (Pubitemid 37174447)
27. Yeung Laiwah AAC, Mactier R, McColl KEL, Moore MR, and Goldberg A. Early-onset chronic renal failure as a complication of acute intermittent porphyria. Quarterly Journal of Medicine 52: 92-98, 1983. (Pubitemid 14248201)
28. Yeung Laiwah AC, Macphee GJA, Boyle P, Moore MR, and Goldberg A. Autonomic neuropathy in acute intermittent porphyria. Journal of Neurology, Neurosurgery and Psychiatry 48: 1025-1030, 1985. (Pubitemid 16235988)