Clinical relevance of hemochromatosis-related HFE C282Y/H63D gene mutations in patients on chronic dialysis

Clinical Nephrology

Volumn 58, Issue 6, 2002, Pages 438-444

  Canavese, C ^a   Bergamo, D ^a   Barbieri, S ^a   Timbaldi, M ^d   Thea, A ^a   Martina, G ^a   Damiani, D ^b   Fenoglio, R ^a   Donati Marella, B ^c   Priolo, G ^c  

^a UNIVERSITY OF TURIN   (Italy)

^b CTO HOSPITAL   (Italy)

^c MOLINETTE HOSPITAL   (Italy)

^d NONE

Author keywords

C282Y mutation; Cardiovascular events; Dialysis; H63D mutation; Hemochromatosis; HFE gene; Iron; Porphyria cutanea tarda; Uremia

Indexed keywords

C REACTIVE PROTEIN; ERYTHROPOIETIN; FERRITIN; HEMOGLOBIN; HFE PROTEIN; IRON; TRANSFERRIN;

ADULT; AGED; ALLELE; ARTICLE; BIOCHEMISTRY; BIOPSY TECHNIQUE; CARDIOVASCULAR DISEASE; CHRONIC INFLAMMATION; CONTROLLED STUDY; CORRELATION FUNCTION; DISEASE ASSOCIATION; DISEASE MARKER; ERYTHROCYTE VOLUME; ERYTHROPOIESIS; FEMALE; FERRITIN BLOOD LEVEL; GENE MUTATION; HEMATOLOGICAL PARAMETERS; HEMOCHROMATOSIS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; IRON THERAPY; LONG TERM CARE; MAJOR CLINICAL STUDY; MALE; PERITONEAL DIALYSIS; PORPHYRIA CUTANEA TARDA; PREVALENCE; PROTEIN CONTENT; SUPPLEMENTATION; TRANSFERRIN BLOOD LEVEL;

EID: 0036900822     PISSN: 03010430     EISSN: None     Source Type: Journal    
DOI: 10.5414/cnp58438     Document Type: Article

References (23)

1. Alfrey AC 1992 Toxicity of tubule fluid iron in the nephrotic syndrome. Am J Physiol 263: F637-641
2. Arredondo M, Munoz P, Mura C, Nunez MT 2001 HFE inhibits apical iron uptake by intestinal epithelial (Caco-2) cells. FASEB J 15: 1276-1278
3. Beutler E 1997 Genetic iron beyond haemochromatosis: clinical effects of HLA-H mutations. Lancet 349: 296-297
4. Beutler E, Felitti V, Gelbart T, Ho N 2001 Genetics of iron storage and hemochromatosis. Drug Metab Dispos 29: 495-499
5. Besarab A, Kaiser JW, Frinak S 1999 A study of parenteral iron regimens in hemodialysis patients. Am J Kidney Dis 34: 21-28
6. Cassanelli S, Pignatti E, Montosi G, Garuti C, Mariano M, Campioli D, Carbonieri A, Baldini E, Pietrangelo A 2001 Frequency and biochemical expression of C282Y/H63D hemochromatosis (HFE) gene mutations in the healthy adult population in Italy. J Hepatol 34: 523-528
7. Cooper MA, Buddington B, Miller NL, Alfrey AC 1995 Urinary iron speciation in nephrotic syndrome. Am J Kidney Dis 25: 314-319
8. Dereure O, Aguilar-Martinez P, Bessis D, Perney P, Vallat C, Guillot B, Blanc F, Guilhou JJ 2001 HFE mutations and transferrin receptor polymorphism analysis in porphyria cutanea tarda: a prospective study of 36 cases from southern France. Br J Dermatol 144: 533-539
9. Franco RF, Zago MA, Trip MD, ten Cate H, van den Ende A, Prins MH, Kastelein JJ, Reitsma PH 1998 Prevalence of hereditary haemochromatosis in premature atherosclerotic vascular disease. Br J Haematol 102: 1172-1175
10. Enns CA 2001 Pumping iron: the strange partnership of the hemochromatosis protein, a class I MHC homolog, with the transferrin receptor. Traffic 2: 167-174
11. Gochee PA, Powell LW 2001 What's new in hemochromatosis? Curr Opin Hematol 8: 98-104
12. Griffiths WJ, Sly WS, Cox TM 2001 Intestinal iron uptake determined by divalent metal transporter is enhanced in HFE-deficient mice with hemochromatosis. Gastroenterology 120: 1420-1429
13. Harford AM, Zager PG, Wiltbank TB, Kirlin L, Della Valle AM, Van Wyck DB 1996 Iron utilization after iron dextran administration for iron deficiency in patients with dialysis-associated anemia: a prospective analysis and comparison of two agents. Am J Kidney Dis 28: 855-860
14. Liu H, Shah SV, Baliga R 2001 Cytochrome P-450 as a source of catalytic iron in minimal change nephrotic syndrome in rats. Am J Physiol Renal Physiol 280: F88-94
15. Nankivell BJ, Boadle RA, Harris DC 1992 Iron accumulation in human chronic renal disease. Am J Kidney Dis 20: 580-584
16. Niederau C 2000 Iron overload and atherosclerosis. Hepatology 32: 672-674
17. Nissenson AR, Lindsay RM, Swan S, Seligman P, Strobos J 1999 Sodium ferric gluconate complex in sucrose is safe and effective in hemodialysis patients: North American Clinical Trial. Am J Kidney Dis 33: 471-482
18. Roberts AG, Whatley SD, Morgan RR, Worwood M, Elder GH 1997 Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda. Lancet 349: 321-323
19. Roe DJ, Harford AM, Zager PG, Wiltbank TB, Kirlin L, Della Valle AM, Van Wyck DB 1996 Iron utilization after iron dextran administration for iron deficiency in patients with dialysis-associated anemia: a prospective analysis and comparison oftwo agents. Am J Kidney Dis 28: 855-860
20. Sampietro M, Piperno A, Lupica L, Arosio C, Vergani A, Corbetta N, Malosio I, Mattioli M, Fracanzani AL, Cappellini MD, Fiorelli G, Fargion S 1998 High prevalence of the His63Asp HFE mutation in Italian patients with porphyria cutanea tarda. Hepatology 27: 181-184
21. Sham RL, Raubertas RF, Braggins C, Cappuccio J, Gallagher M, Phatak PD 2000 Asymptomatic hemochromatosis subjects: genotypic and phenotypic profiles. Blood 96: 3707-3711
22. Steinberg KK, Cogswell ME, Chang JC, Caudill SP, McQuillan GM, Bowman BA, Grummer-Strawn LM, Sampson EJ, Khoury MJ, Gallagher ML 2001 Prevalence of C282Y and H63D mutations in the hemochromatosis (HFE) gene in the United States. JAMA 285: 2216-2222
23. Stuart KA, Busfield F, Jazwinska EC, Gibson P, Butterworth LA, Cooksley WG, Powell LW, Crawford DH 1998 The C282Y mutation in the haemochromatosis gene (HFE) and hepatitis C virus infection are independent cofactors for porphyria, cutanea tarda in Australian patients. J Hepatol 28: 404-409