Porphyria in Sweden

Physiological Research

Volumn 55, Issue SUPPL. 2, 2006, Pages

  Thunell, Stig ^a   Floderus, Y ^a   Henrichson, A ^a   Harper, P ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

Centre; Consulting services; Diagnostic service; History; Laboratory; Mutations; Patient register; Patients' association; Porphyria review; Prevalence; Prevention; Swedish porphyria

Indexed keywords

ARTICLE; GENETICS; HUMAN; MUTATION; PORPHYRIA; PREVALENCE; SWEDEN;

HUMANS; MUTATION; PORPHYRIAS; PREVALENCE; SWEDEN;

EID: 33847182044     PISSN: 08628408     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (42)

1. AKAGI R, YASUI Y, HARPER P, SASSA S: A novel mutation of delta-aminolaevulinate dehydratase in a healthy child with 12 % erythrocyte enzyme activity. Br J Haematol 106: 931-937, 1999.
2. ANDERSSON C: Acute intermittent porphyria in Northern Sweden. A population-based study. Department of Family Medicine, University of Umeå, Umeå. 1997.
3. ANDERSSON C, BJERSING L, LITHNER F: The epidemiology of hepatocellular carcinoma in patients with acute intermittent porphyria. J Intern Med 240: 195-201, 1996.
4. ANDERSSON C, FLODERUS Y, WIKBERG A, LITHNER F: The W198X and R173W mutations in the porphobilinogen deaminase gene in acute intermittent porphyria have higher clinical penetrance than R167W. A population-based study. Scand J Clin Lab Invest 60: 643-648, 2000.
5. ANDERSSON C, LITHNER F: Hypertension and renal disease in patients with acute intermittent porphyria. J Intern Med 236: 169-175, 1994.
6. ANDERSSON C, THUNELL S, FLODERUS Y, FORSELL C, LUNDIN G, ANVRET M, LANNFELT L, WETTERBERG L, LITHNER F: Diagnosis of acute intermittent porphyria in northern Sweden: an evaluation of mutation analysis and biochemical methods. J Intern Med 237: 301-308, 1995.
7. BERZELIUS JJ: In: Lehrbuch der Chemie. Arnoldische Buckhandling, Dresden & Leipzig, 1840, pp 67-69.
8. ENGEL A, BODEN E, WALLQUIST E: Till frågan om hereditär porfyrinurisjukdom. Nordisk Medicinsk Tidskrift 10: 1521, 1935.
9. FLODERUS Y, SHOOLINGIN-JORDAN P, HARPER P: Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene. Clin Genet 62: 288-297, 2002.
10. GRANDCHAMP B, NORDMANN Y, ROMEO PH, GOOSSENS M: Genetic analysis of acute intermittent porphyria. In: Genetics of Neuropsychiatric Diseases. WETTERBERG L (ed), Stockton Press, New York, 1989, pp 139-146.
11. HAEGER-ARONSEN B: Various types of porphyria in Sweden. S Afr Med J 37: 288-295, 1963.
12. HAEGER-ARONSEN B, KROOK G: Erythropoietic protoporphyria. A study of known cases in Sweden. Acta Med Scand 445: 48-55, 1965.
13. HAEGER-ARONSEN B, STATHERS G, SWAHN G: Hereditary coproporphyria. Study of a Swedish family. Ann Intern Med 69: 221-227, 1968.
14. HAMMARSTEN O: Ueber haematoporphyrin im Harn. Scand Arch Physiol 3: 319-343, 1892.
15. HARPER P, FLODERUS Y, HOLMSTRÖM P, EGGERTSEN G, GÅFVELS M: Enrichment of HFE mutations in Swedish patients with familial and sporadic form of porphyria cutanea tarda. J Intern Med 255: 684-687, 2004.
16. HOPPE-SEYLER F: Das Hämatin. Tübinger Med-Chem Untersuchungen 4: 523-533, 1871.
17. JOHANSSON A, MÖLLER C, FOGH J, HARPER P: Biochemical characterization of the porphobilinogen deaminase deficient mice during phenobarbital induction of heme synthesis and the effect of enzyme replacement. Mol Med 9: 193-199, 2003.
18. JOHANSSON A, NOWAK G, MÖLLER C, BLOMBERG P, HARPER P: Adenoviral Mediated Expression of Porphobilinogen Deaminase in Liver Restores the Metabolic Defect in a Mouse Model of Acute Intermittent Porphyria. Mol Ther 10: 337-343, 2004.
19. LANNFELT L: Immunological determination of porphobilinogen deaminase as a diagnostic measure in acute intermittent porphyria. J Clin Chem Clin Biochem 28: 273-278, 1990.
20. LEE JS, ANVRET M: Identification of the most common mutation within the porphobilinogen deaminase gene in Swedish patients with acute intermittent porphyria. Proc Natl Acad Sci U S A 88: 10912-10915, 1991.
21. LINDE Y, HARPER P, FLODERUS Y, ROS AM: The prevalence of hepatitis C in patients with porphyria cutanea tarda in Stockholm, Sweden. Acta Derm Venereol 85: 164-166, 2005.
22. LUNDIN G, LEE JS, THUNELL S, ANVRET M: Genetic investigation of the porphobilinogen deaminase gene in Swedish acute intermittent porphyria families. Hum Genet 100: 63-66, 1997.
23. PLEWINSKA M, THUNELL S, HOLMBERG L, WETMUR JG, DESNICK R: delta-Aminolevulinate dehydratase deficient porphyria: Identification of the molecular lesions in a severely affected homozygote. Am J Hum Genet 49: 167-174, 1991.
24. SARDH E, REJKJAER, L., HARPER, P. AND ANDERSSON, D. E.: First clinical trial of i.v. rhPBGD in healthy subjects with and without diagnosed manifest acute intermittent porphyria (AIP). Physiol Res 52: 23S, 2003.
25. STENBERG B, WITH TK: The first Swedish case of congenital erythropoietic porphyria, with a revised view of the porphyrin excretion pattern in this disease. Acta Derm Venereol Suppl 100: 87-90, 1982.
26. STOKVIS BJ: Over twee zeldzame kleurstoffen in urine van zieken. Nederlands tijdschr geneeskunde, Amsterdam 13: 409-417, 1889.
27. THUDICHUM JLW: Report on researches intended to promote an improved chemical identification of disease. In: 10th Report of the Medical Officer of the Privy Council. H.M. Stationary Office, London, 1867, pp 152-195; 200; 227-233.
28. THUNELL S: Porphyrins, porphyrin metabolism and porphyrias. I. Update. Scand J Clin Lab Invest 60: 509-540, 2000.
29. THUNELL S, HARPER P: Porphyrins, porphyrin metabolism, porphyrias. III. Diagnosis, care and monitoring in porphyria cutanea tarda - suggestions for a handling programme. Scand J Clin Lab Invest 60: 561-579, 2000.
30. THUNELL S, HARPER P, BROCK A, PETERSEN NE: Porphyrins, porphyrin metabolism and porphyrias. II. Diagnosis and monitoring in the acute porphyrias. Scand J Clin Lab Invest 60: 541-559, 2000a.
31. THUNELL S, HARPER P, BRUN A: Porphyrins, porphyrin metabolism and porphyrias. IV. Pathophysiology of erythyropoietic protoporphyria - diagnosis, care and monitoring of the patient. Scand J Clin Lab Invest 60: 581-604, 2000b.
32. WALDENSTRÖM J: Studien über porphyrie. Academic dissertation. Acta Med Scand Suppl 82, 1937.
33. WALDENSTRÖM J: The porphyrias as inborn errors of metabolism. Am J Med 22: 758-773, 1957.
34. WALDENSTRÖM J: Studien über die Entstchung der roten Harnpigmente (Uroporphyrin und Porphobilin) bei der acuten Porphyrie aus ihrer farblosen Vorstufe (Porphobilinogen). Hoppe-Seyler's Z physiol Chem 260: 189-209, 1939.
35. WALLQUIST E: Arv. In: Få mans land. Bonniers, Stockholm, 1939, pp 75-92.
36. WESTERMARK F: Ett fall av interstitiet uterusmyom och hämatoporfyriniuri. Hygiea: 156-161, 1892.
37. WETTERBERG L: A Neuropsychiatric and Genetical Investigation of Acute Intermittent Porphyria. Svenska Bokförlaget/Norstedts, Stockholm. 1967.
38. WETTERBERG L: Report on an international survey of safe and unsafe drugs in acute intermittent porphyria. In: Porphyrins in human diseases. DOSS M, NAWROCKI P (eds), Falk, Freiburg, 1976, pp 191-202.
39. WIMAN A, FLODERUS Y, HARPER P: Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria. J Hum Genet 48: 70-76, 2003a.
40. WIMAN A, HARPER P, FLODERUS Y: Nine novel mutations in the protoporphyrinogen oxidase gene in Swedish families with variegate porphyria. Clin Genet 64: 122-130, 2003b.
41. WIMAN Å, FLODERUS Y, HARPER P: Two novel mutations and coexistence of the 991C>T and the 1339C>T mutation on a single allele in the coproporphyrinogen oxidase gene in Swedish patients with hereditary coproporphyria. J Hum Genet 47: 407-412, 2002.
42. WITH TK: A short history of porphyrins and the porphyrias. Int J Biochem 11: 189-200, 1980.