Genetic haemochromatosis: Diagnosis and treatment;Diagnostic et traitement des hemochromatoses genetiques

Revue du Praticien

Volumn 50, Issue 9, 2000, Pages 977-982

  Moirand, Romain ^a   Guillygomarc'h, Anne ^a   Brissot, Pierre ^a   Deugnier, Yves ^a  

^a PONTCHAILLOU UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ARTHRALGIA; AUTOSOMAL RECESSIVE DISORDER; FAMILIAL INCIDENCE; FATIGUE; GENE MUTATION; GENETIC SCREENING; HEMOCHROMATOSIS; HOMOZYGOTE; HUMAN; IRON ABSORPTION; IRON OVERLOAD; LIFE EXPECTANCY; LIVER BIOPSY; LIVER CARCINOMA; LIVER CIRRHOSIS; LIVER FIBROSIS; PHENOTYPE; PHLEBOTOMY; REVIEW; DIFFERENTIAL DIAGNOSIS; GENETICS; GENOTYPE;

DIAGNOSIS, DIFFERENTIAL; GENOTYPE; HEMOCHROMATOSIS; HUMANS;

EID: 0034192499     PISSN: 00352640     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (21)

1. Feder JN, Gnirke A, Thomas W et al. A novel MHC class-I like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996 ;13 :399-408.
2. Adams PC, Deugnier Y, Moirand R, Brissot P. The relationship between iron overload, clinical symptoms, and age in 410 patients with genetic hemochromatosis. Hepatology 1997 ; 25 : 162-6.
3. Adams PC, Kertesz AE, Valberg LS. Clinical presentation of hemochromatosis: a changing scene. Am J Med 1991 ;90 :445-9.
4. Edwards CQ, Cartwright GE, Skolnick MH, Amos DB. Homozygosity for hemochromatosis: clinical manifestations. Ann Intern Med 1980; 93 :519-25.
5. Pawlotsky Y, Le Dantec P, Moirand R et al. Elevated parathyroid hormone 44-68 and osteoarticular changes in patients with genetic hemochromatosis. Arthritis Rheum 1999 ; 42 : 799-806.
6. Loreal O, Deugnier Y, Moirand R et al. Liver fibrosis in genetic hemochromatosis. Respective roles of iron and non-iron-related factors in 127 homozygous patients. J Hepatol 1992 ; 16 : 122-7.
7. Moirand R, Adams P, Bicheler V, Brissot P, Deugnier Y. Genetic hemochromatosis in women: clinical features in 176 women compared to men.Ann Intern Med 1997 ; 127 :105-10.
8. Brissot P, Bourel M, Herry D et al. Assessment of liver iron content in 271 patients: a reevaluation of direct and indirect methods. Gastroenterology 1981 ;80 :557-65.
9. Guyader D, Jacquelinet C, Moirand R et al. Noninvasive prediction of fibrosis in C282Y homozygous hemochromatosis. Gastroenterology 1998; 115 :929-36.
10. Deugnier Y, Moirand R, Guyader D, Brissot P. Diagnostic d'une hyperferritinémie. Ann Biol Clin (Paris) 1998 ;56 (Spécial):41-3.
11. Deugnier Y, Guyader D, Jouanolle H, Moirand R, Brissot P. Les fausses surcharges en fer. Concours Med 1992 ;114 :680-6.
12. Gandon Y, Guyader D, Heautot JF et al. Hemochromatosis: diagnosis and quantification of liver iron with gradient-echo MR imaging. Radiology 1994 ; 193 :533-8.
13. Mendler M, Turlin B, Moirand R et al. Insulin resistance - associated hepatic iron overload. Gastroenterology 1999 ; 117: 1155-63.
14. Moirand R, Abdel Majid M, Paillard F, Brissot P, Deugnier Y. Liver iron overload with normal transferrin saturation: a new syndrome. Lancet 1997;349:95-7.
15. Deugnier Y, Turlin B, Le Quilleuc D et al. A reappraisal of hepatic siderosis in patients with end-stage cirrhosis: practical implications for the diagnosis of hemochromatosis. Am J Surg Pathol 1997;21 :669-75.
16. Moirand R, Lescoat G, Delamaire D, Loréal O, Deugnier Y, Brissot P. Increase of glycosylated and non glycosylated serum ferritin in chronic alcoholism and evolution during alcohol withdrawal. Alcohol Clin Exp Res 1991 ; 15 :963-9.
17. Yoshida K, Furihata K, Takeda S et al. A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans. Nat Genet 1995 ;9 :267-72.
18. Roetto A, Totaro A, Cazzola M et al. Juvenile hemochromatosis locus maps to chromosome Iq. Am J Hum Genet 1999 ;64 : 1388-93.
19. Moirand R, Jouanolle A, Brissot P, Le Gall J, David V, Deugnier Y. Phenotypic expression of the HFE mutations: a French study of 1110 unrelated iron-overloaded patients and relatives. Gastroenterology 1999 ; 116 : 372-7.
20. Niederau C, Fischer R, Purschel A, Stremmel W, Haussinger D, Strohmeyer G. Long-term survival in patients with hereditary hemochromatosis. Gastroenterology 1996 ; 100 : 1107-19.
21. Jouanolle AM, Fergelot P, Raoul ML et al. Prevalence of the C282Y mutation in Brittany: penetrance of genetic hemochromatosis? Ann Genet 1998 ;41 : 195-8.