Treat the patient not the lab value

NDT Plus

Volumn 3, Issue 1, 2010, Pages 81-83

  Tolouian, Ramin ^a   Salameh, Hasan ^a  

^a USA   (United States)

Author keywords

clinical assessment; D313Y; Fabry's disease

Indexed keywords

GALACTOSIDASE;

ADULT; ARTICLE; CASE REPORT; COLD SENSATION; DIAGNOSTIC ERROR; FABRY DISEASE; GENE MUTATION; GENETIC SCREENING; HUMAN; LABORATORY TEST; MALE; PAIN; PARESTHESIA; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; SENSORIMOTOR NEUROPATHY;

EID: 77955957587     PISSN: 17530784     EISSN: 17530792     Source Type: Journal    
DOI: 10.1093/ndtplus/sfp156     Document Type: Article

References (13)

1. Sweeley CC. Klionsky, Fabry's disease: classification as a sphingolipidosis and partial characterization of a novel glycolipid. J Biol Chem 1963; 238: 3148-3150
2. BrantonMH, Schiffmann R, Sabnis SG et al. Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course. Medicine (Baltimore) 2002; 81:122-138
3. Mehta A, Ricci R, Widmer U et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry outcome survey. Eur J Clin Invest 2004; 34: 236-242
4. MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 2001; 38: 750-760
5. Meikle PJ, Hopwood JJ, Clague AE et al. Prevalence of lysosomal storage disorders. JAMA 1999; 281: 249
6. Desnick RJ, Brady RO. Fabry disease in childhood. J Pediatr 2004; 144(5 Suppl): S20-S26
7. Desnick RJ, Brady R, Barranger J et al. Fabry disease, an underrecognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 2003; 138: 338-346
8. Cho ME, Kopp JB. Fabry disease in the era of enzyme replacement therapy: a renal perspective. Pediatr Nephrol 2004; 19: 583-593
9. Yasuda M, Gordon RE, Dikman SH et al. Fabry disease: normal renal ultrastructure indicates that galactosidase A variant D313Y causes plasma enzyme pseudodeficiency. Hum Mutat 2003; 22: 486-492
10. Hoffmann B, Georg Koch H, Schweitzer-Krantz S et al. Deficient alpha-galactosidase A activity in plasma but no Fabry disease-a pitfall in diagnosis. Clin Chem Lab Med 2005; 43: 1276-1277
11. Froissart R, Guffon N, Vanier MT et al. Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes psuedodeficient activity in plasma. Mol Genet Metab 2003; 80: 307-314
12. Woywodt A, Hellweg S, Schwarz A et al. A wild zebra chase. Nephrol Dial Transplant 2007; 22: 3074-3077
13. Bracamonte Erika R, Kowalewska J, Starr J et al. Iatrogenic phospholipidosis mimicking Fabry disease. Am J Kidney Dis 2006; 48; 844-850