Fabry disease: Detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype

Kidney International

Volumn 64, Issue 3, 2003, Pages 801-807

  Nakao, Shoichiro ^b   Kodama, Chihaya ^b   Takenaka, Toshihiro ^b   Tanaka, Akihiro ^b   Yasumoto, Yuichiro ^b   Yoshida, Aichi ^b   Kanzaki, Tamotsu ^b   Enriquez, Annette L D ^b   Eng, Christine M ^b   Tanaka, Hiromitsu ^b   Tei, Chuwa ^a   Desnick, Robert J ^b  

^a KAGOSHIMA UNIVERSITY   (Japan)

^b NONE

Author keywords

End stage renal disease; Fabry disease; Genotype phenotype; Hemodialysis; Lysosomal storage disease; Mutation detection; galactosidase A deficiency

Indexed keywords

ALPHA GALACTOSIDASE;

ADULT; AGED; ANHIDROSIS; ARTICLE; CATARACT; CLINICAL FEATURE; CONTROLLED STUDY; ENZYME ASSAY; ENZYME DEFICIENCY; ENZYME REPLACEMENT; EYE DISEASE; FABRY DISEASE; GENETIC VARIABILITY; HEART LEFT VENTRICLE HYPERTROPHY; HEMANGIOKERATOMA; HEMODIALYSIS; HUMAN; KIDNEY FAILURE; KIDNEY TRANSPLANTATION; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; X CHROMOSOME LINKAGE;

EID: 12444319931     PISSN: 00852538     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1755.2003.00160.x     Document Type: Article

References (40)

1. BRADY RO, GAL AE, BRADLEY RM, et al: Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency. N Engl J Med 276:1163-1167, 1967
2. DESNICK RJ, ALLEN KY, DESNICK SJ, et al: Fabry disease: Enzymatic diagnosis of hemizygotes and heterozygotes, α-Galactosidase activities in plasma, serum, urine and leukocytes. J Lab Clin Med 81:157-171, 1973
3. DESNICK RJ, IOANNOU YA, ENG CM: α-Galactosidase A deficiency: Fabry disease, in The Metabolic and Molecular Bases of Inherited Disease, 8th ed, edited by SCRIVER CR, BEAUDET AL, SLY WS, et al, New York, McGraw-Hill, 2001, pp 3733-3774
4. MCNARY W, LOWENSTEIN L: A morphological study of the renal lesion in angiokeratoma corporis diffusum universale (Fabry's disease). J Urol 93:641-648, 1965
5. PABICO RC, ATANCIO BC, MCKENNA BA, et al: Renal pathologic lesions and functional alterations in a man with Fabry's disease. Am J Med 55:415-425, 1973
6. DESNICK RJ, BLIEDEN LC, SHARP HL, et al: Cardiac valvular anomalies in Fabry disease. Clinical, morphologic, and biochemical studies. Circulation 54:818-825, 1976
7. WILLARD HF: The sex chromosome and X chromosome inactivation, in The Metabolic and Molecular Bases of Inherited Disease, 8th ed, edited by SCRIVER CR, BEAUDET AL, SLY WS, et al, New York, McGraw-Hill, 2001, pp 1191-1212
8. ELLEDER M, BRADOVA V, SMID F, et al: Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy. Virchows Arch A Pathol Anat Histopathol 417:449-455, 1990
9. VON SCHEIDT W, ENG CM, FITZMAURICE TF, et al: An atypical variant of Fabry's disease with manifestations confined to the myocardium. N Engl J Med 324:395-399, 1991
10. NAGAO Y, NAKASHIMA H, FUKUHARA Y, et al: Hypertrophic cardiomyopathy in late-onset variant of Fabry disease with high residual activity of α-galactosidase A Clin Genet 39:233-237, 1991
11. NAKAO S, TAKENAKA T, MAEDA M, et al: An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N Engl J Med 333:288-293, 1995
12. SACHDEV B, TAKENAKA T, TERAGUCHI H, et al: Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation 105:1407-1411, 2002
13. SCHIFFMANN R, MURRAY GJ, TRECO D, et al: Infusion of α-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease. Proc Natl Acad Sci USA 97:365-370, 2000
14. SCHIFFMANN R, KOPP JB, AUSTIN HA, 3RD, et al: Enzyme replacement therapy in Fabry disease: A randomized controlled trial. JAMA 285:2743-2749, 2001
15. ENG CM, BANIKAZEMI M, GORDON R, et al: A phase 1/2 clinical trial of enzyme replacement in Fabry disease: Pharmacokinetic, substrate clearance, and safety studies. Am J Hum Genet 68:711-722, 2001
16. ENG CM, GUFFON N, WILCOX WR, et al: Safety and efficacy of recombinant human α-galactosidase A replacement therapy in Fabry's disease. N Engl J Med 345:9-16, 2001
17. FRUSTACI A, CHIMENTI C, RICCI R, et al: Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy. N Engl J Med 345:25-32, 2001
18. DESNICK RJ, SCHUCHMAN EH: Enzyme replacement and enhancement therapies: Lessons from lysosomal disorders. Nat Rev Genet 3:954-966, 2002
19. SHELLEY ED, SHELLEY WB, KURCZYNSKI TW: Painful fingers, heat intolerance, and telangiectases of the ear: Easily ignored childhood signs of Fabry disease. Pediatr Dermatol 12:215-219, 1995
20. FELNER JM: Echocardiography, in The Heart: Arteries and Veins, edited by HURST JW, New York, McGraw-Hill, 1990, pp 1990-2035
21. MAYES JS, SCHEERER JB, SIFERS RN, DONALDSON ML: Differential assay for lysosomal α-galactosidases in human tissues and its application to Fabry's disease. Clin Chim Acta 112:247-251, 1981
22. VANCE DE, KRIVIT W, SWEELEY CC: Concentrations of glycosyl ceramides in plasma and red cells in Fabry's disease, a glycolipid lipidosis. J Lipid Res 10:188-192, 1969
23. ENG CM, RESNICK-SILVERMAN LA, NIEHAUS DJ, et al: Nature and frequency of mutations in the α-galactosidase A gene that cause Fabry disease. Am J Hum Genet 53:1186-1197, 1993
24. SCRIVER CR, BEAUDET AL, SLY WS, et al: The Metabolic and Molecular Bases of Inherited Diseases, New York, McGraw-Hill, 2001
25. YOSHITAMA T, NAKAO S, TAKENAKA T, et al: Molecular genetic, biochemical, and clinical studies in three families with cardiac Fabry's disease. Am J Cardiol 87:71-75, 2001
26. ENG CM, ASHLEY GA, BURGERT TS, et al: Fabry disease: Thirty-five mutations in the α-galactosidase A gene in patients with classic and variant phenotypes. Mol Med 3:174-182, 1997
27. ISHII S, SAKURABA H, SUZUKI Y: Point mutations in the upstream region of the α-galactosidase A gene exon 6 in an atypical variant of Fabry disease. Hum Genet 89:29-32, 1992
28. ENG CM, NIEHAUS DJ, ENRIQUEZ A, et al: Fabry disease: Twenty-three mutations including sense and antisense CpG alterations and identification of a deletion hot-spot in the α-galactosidase A gene. Hum Mol Genet 3:1795-1799, 1994
29. ASHTON-PROLLA P, TONG B, ASTRIN KH, et al: 22 novel mutations in the α-galactosidase A gene and genotype/phenotype correlations including mild hemizygotes and severely affected heterozygotes. J Invest Med 48:227-235, 2000
30. LEDVINOVA J, POUPETOVA H, HANACKOVA A, et al: Blood group B glycosphingolipids in α-galactosidase deficiency (Fabry disease): Influence of secretor status. Biochim Biophys Acta 1345:180-187, 1997
31. CLARKE JT, KNAACK J, CRAWHALL JC, WOLFE LS: Ceramide trihexosidosis (Fabry's disease) without skin lesions. N Engl J Med 284:233-235, 1971
32. SOBH M, MOUSTAFA F, GHONIEM M: Value of renal biopsy in chronic renal failure. Int Urol Nephrol 20:77-83, 1988
33. AKIBA T: An overview of dialysis treatment in Japan (as of Dec 31, 2000). Jpn Soc Dial Ther 81:1-623, 2001
34. UTSUMI K, KASE R, TAKATA T, et al: Fabry disease in patients receiving maintenance dialysis. Clin Exp Nephrol 4:49-51, 2002
35. CENTERS OF MEDICARE AND MEDICAID SERVICES: 2001 annual report: End stage renal disease clinical performance measures project. Am J Kidney Dis 39 (Suppl 2):S1-S98, 2002
36. U.S. RENAL DATA SYSTEM: UADR 2001 annual data report, in Atlas of End-Stage Renal Disease in the United States, Bethesda, MD, NIH, National Institute of Diabetes and Digestive And Kidney Diseases, 2001
37. SPADA M, PAGLIARDINI S: Screening for Fabry disease in end-stage nephropathies. J Inherit Metab Dis 25(Suppl 1):113, 2002
38. MACDERMOT KD, HOLMES A, MINERS AH: Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet 38:769-775, 2001
39. WHYBRA C, KAMPMANN C, WILLERS I, et al: Anderson-Fabry disease: Clinical manifestations of disease in female heterozygotes. J Inherit Metab Dis 24:715-724, 2001
40. THADHANI R, WOLF M, WEST ML, et al: Patients with Fabry disease on dialysis in the United States. Kidney Int 61:249-255, 2002