Fabry disease in patients with end-stage renal failure: The potential benefits of screening

Nephron - Clinical Practice

Volumn 101, Issue 1, 2005, Pages

  Bekri, Soumeya ^a   Enica, Adrian ^a   Ghafari, Thomas ^a   Plaza, Gisèle ^a   Champenois, Isabelle ^a   Choukroun, Gabriel ^b   Unwin, Robert ^a   Jaeger, Philippe ^a  

^a UNIVERSITY HOSPITAL OF NICE   (France)

^b AMIENS UNIVERSITY HOSPITAL   (France)

Author keywords

Galactosidase A; Fabry disease; Hemodialysis; Renal failure; Screening for Fabry disease

Indexed keywords

ALPHA GALACTOSIDASE;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME BLOOD LEVEL; FABRY DISEASE; FEMALE; GENETIC ANALYSIS; GENETIC CODE; GENETIC RISK; HEMODIALYSIS; HUMAN; KIDNEY FAILURE; LEUKOCYTE AGGREGATION; MAJOR CLINICAL STUDY; MALE; POINT MUTATION; PRIORITY JOURNAL; SCREENING TEST;

ADULT; AGED; AGED, 80 AND OVER; ALPHA-GALACTOSIDASE; FABRY DISEASE; FEMALE; HUMANS; KIDNEY FAILURE, CHRONIC; MALE; MIDDLE AGED; POINT MUTATION;

EID: 23844500993     PISSN: 16602110     EISSN: None     Source Type: Journal    
DOI: 10.1159/000085709     Document Type: Article

References (19)

1. Sweeley CC, Klionsky B: Fabry's disease: Sphingolipidosis and partial characterization of a novel glycolipid. J Biol Chem 1963;238:3148-3150.
2. Desnick R, Ioannou Y, Eng CM: α-Galactosidase A deficiency: Fabry disease; in Scriver C, Beaudet A, Sly W, Valle D (eds): The Metabolic and Molecular Bases of Inherited Disease, ed 8. New York, McGraw-Hill, 2001, pp 3733-3774.
3. Schiffmann R, Floeter MK, Dambrosia JM, Gupta S, Moore DF, Sharabi Y, Khurana RK, Brady RO: Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease. Muscle Nerve 2003;28:703-710.
4. Hajioff D, Goodwill S, Quiney R, Zuckerman J, MacDermot KD, Mehta A: Hearing improvement in patients with Fabry disease treated with agalsidase alfa. Acta Paediatr Suppl 2003;92:28-30.
5. Whybra C, Kampmann C, Krummenauer F, Ries M, Mengel E, Miebach E, Baehner F, Kim K, Bajbouj M, Schwarting A, et al: The Mainz Severity Score Index: A new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy. Clin Genet 2004;65:299-307.
6. Guffon N, Fouilhoux A: Clinical benefit in Fabry patients given enzyme replacement therapy - A case series. J Inherit Metab Dis 2004;27:221-227.
7. Jardim L, Vedolin L, Schwartz IV, Burin MG, Cecchin C, Kalakun L, Matte U, Aesse F, Pitta-Pinheiro C, Marconato J, et al: CNS involvement in Fabry disease: Clinical and imaging studies before and after 12 months of enzyme replacement therapy. J Inherit Metab Dis 2004;27:229-240.
8. Desnick RJ, Allen KY, Desnick SJ, Raman MK, Bernlohr RW, Krivit W: Fabry's disease: Enzymatic diagnosis of hemizygotes and heterozygotes. α-Galactosidase activities in plasma, serum, urine, and leukocytes. J Lab Clin Med 1973;81:157-171.
9. Sambrook J, Fritsch E: Molecular Cloning: A Laboratory Manual. Cold Spring Harbor, Cold Spring Harbor Laboratory Press, 1989.
10. Tsakiris D, Simpson HK, Jones EH, Briggs JD, Elinder CG, Mendel S, Piccoli G, dos Santos JP, Tognoni G, Vanrenterghem Y, et al: Report on management of renal failure in Europe, XXVI, 1995. Rare diseases in renal replacement therapy in the ERA-EDTA Registry. Nephrol Dial Transplant 1996;11(suppl 7):4-20.
11. Thadhani R, Wolf M, West ML, Tonelli M, Ruthazer R, Pastores GM, Obrador GT: Patients with Fabry disease on dialysis in the United States. Kidney Int 2002;61:249-255.
12. Walters BAJ, Prichard M, McCardle H, Richards SM, Bosch JP: Prevalence of reduced plasma α-galactosidase in a cohort of male patients on hemodialysis in the United States. American College of Medical Genetics, Annual Medical Genetics Meeting, 2002.
13. Spada M, Pagliardini S: Screening for Fabry disease in end-stage nephropathies. J Inherit Metab Dis 2002;25:113.
14. Linthorst GE, Hollak CE, Korevaar JC, Van Manen JG, Aerts JM, Boeschoten EW: α-Galactosidase A deficiency in Dutch patients on dialysis: A critical appraisal of screening for Fabry disease. Nephrol Dial Transplant 2003;18:1381-1584.
15. Nakao S, Kodama C, Takenaka T, Tanaka A, Yasumoto Y, Yoshida A, Kanzaki T, Enriquez AL, Eng CM, Tanaka H, et al: Fabry disease: Detection of undiagnosed hemodialysis patients and identification of a 'renal variant' phenotype. Kidney Int 2003;64:801-807.
16. Kotanko P, Kramar R, Devrnja D, Paschke E, Voigtlander T, Auinger M, Demmelbauer K, Lorenz M, Hauser AC, Koller HJ, et al: Results of a nationwide screening for Anderson-Fabry disease among dialysis patients. J Am Soc Nephrol 2004;15:1323-1329.
17. Davies JP, Winchester BG, Malcolm S: Mutation analysis in patients with the typical form of Anderson-Fabry disease. Hum Mol Genet 1993;2:1051-1053.
18. Ioannou YA, Zeidner KM, Grace ME, Desnick RJ: Human α-galactosidase A: glycosylation site 3 is essential for enzyme solubility. Biochem J 1998;332:789-797.
19. Garman SC, Garboczi DN: The molecular defect leading to Fabry disease: Structure of human α-galactosidase. J Mol Biol 2004;337:319-335.