Organ manifestations and long-term outcome of Fabry disease in patients with the GLA haplotype D313Y

BMJ Open

Volumn 6, Issue 4, 2016, Pages

  Oder, Daniel ^a   Üçeyler, Nurcan ^a   Liu, Dan ^a   Hu, Kai ^a   Petritsch, Bernhard ^a   Sommer, Claudia ^a   Ertl, Georg ^a   Wanner, Christoph ^a   Nordbeck, Peter ^a  

^a UNIVERSITY HOSPITAL WÜRZBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GALACTOSIDASE; BIOLOGICAL MARKER; CREATININE; GADOLINIUM PENTETATE MEGLUMINE; ALPHA-GALACTOSIDASE A, HUMAN; GLOBOTRIAOSYL LYSOSPHINGOLIPID; GLYCOLIPID; SPHINGOLIPID;

ADULT; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; ENZYME ACTIVITY; EXERCISE TEST; FABRY DISEASE; FEMALE; GENOTYPE; HAPLOTYPE; HEART LEFT VENTRICLE EJECTION FRACTION; HOLTER MONITORING; HUMAN; INTERVENTRICULAR SEPTUM; KIDNEY FUNCTION; M MODE ECHOCARDIOGRAPHY; MALE; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE SCANNER; OUTCOME ASSESSMENT; QUALITY OF LIFE; REAL TIME ULTRASOUND SCANNER; TRANSIENT ISCHEMIC ATTACK; WHITE MATTER LESION; ADOLESCENT; AMBULATORY ELECTROCARDIOGRAPHY; BLOOD; GENETICS; HEART LEFT VENTRICLE FUNCTION; MIDDLE AGED; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOPHYSIOLOGY; YOUNG ADULT;

ADOLESCENT; ADULT; ALPHA-GALACTOSIDASE; BIOMARKERS; ELECTROCARDIOGRAPHY, AMBULATORY; EXERCISE TEST; FABRY DISEASE; FEMALE; GLYCOLIPIDS; HAPLOTYPES; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUTATION; QUALITY OF LIFE; SPHINGOLIPIDS; VENTRICULAR FUNCTION, LEFT; YOUNG ADULT;

EID: 84971268630     PISSN: None     EISSN: 20446055     Source Type: Journal    
DOI: 10.1136/bmjopen-2015-010422     Document Type: Article

References (50)

1. Brady RO, Gal AE, Bradley RM, et al. Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency. N Engl J Med 1967;276:1163-7.
2. Kint JA. Fabry's disease: Alpha-galactosidase deficiency. Science 1970;167:1268-9.
3. Desnick RJ, Brady R, Barranger J, et al. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 2003;138:338-46.
4. Germain DP. Fabry disease. Orphanet J Rare Dis 2010;5:30.
5. Tuttolomondo A, Pecoraro R, Simonetta I, et al. Anderson-Fabry disease: A multiorgan disease. Curr Pharm Des 2013;19:5974-96.
6. 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 2001;38:769-75.
7. 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;38:750-60.
8. Uceyler N, Ganendiran S, Kramer D, et al. Characterization of pain in fabry disease. Clin J Pain 2014;30:915-20.
9. Tuttolomondo A, Pecoraro R, Simonetta I, et al. Neurological complications of Anderson-Fabry disease. Curr Pharm Des 2013;19:6014-30.
10. Rolfs A, Bottcher T, Zschiesche M, et al. Prevalence of Fabry disease in patients with cryptogenic stroke: A prospective study. Lancet 2005;366:1794-6.
11. Weidemann F, Ertl G, Wanner C, et al. The Fabry cardiomyopathy- diagnostic approach and current treatment. Curr Pharm Des 2015;21:473-8.
12. Linhart A, Kampmann C, Zamorano JL, et al. Cardiac manifestations of Anderson-Fabry disease: Results from the international Fabry outcome survey. Eur Heart J 2007;28:1228-35.
13. Schiffmann R, Warnock DG, Banikazemi M, et al. Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol Dial Transplant 2009;24:2102-11.
14. Mehta A, Clarke JT, Giugliani R, et al. Natural course of Fabry disease: changing pattern of causes of death in FOS-Fabry Outcome Survey. J Med Genet 2009;46:548-52.
15. Genomes Project C, Abecasis GR, Auton A, et al. An integrated map of genetic variation from 1, 092 human genomes. Nature 2012;491:56-65.accessed 19th October 2015). http://fabry-database.org.
16. Froissart R, Guffon N, Vanier MT, et al. Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma. Mol Genet Metab 2003;80:307-14.
17. Yasuda M, Shabbeer J, Benson SD, et al. Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele. Hum Mutat 2003;22:486-92.
18. Lenders M, Duning T, Schelleckes M, et al. Multifocal White matter lesions associated with the D313Y mutation of the α -galactosidase A gene. PLoS ONE 2013;8:e55565.
19. Niemann M, Rolfs A, Giese A, et al. Lyso-Gb3 Indicates that the Alpha-Galactosidase A Mutation D313Y is not Clinically Relevant for Fabry Disease. JIMD Rep 2013;7:99-102.
20. Lang RM, Badano LP, Mor-Avi V, et al. Recommendations for cardiac chamber quantification by echocardiography in adults: An update from the American Society of Echocardiography and the European Association of Cardiovascular Imaging. Eur Heart J Cardiovasc Imaging 2015;16:233-70.
21. Lang RM, Badano LP, Mor-Avi V, et al. Recommendations for cardiac chamber quantification by echocardiography in adults: An update from the American Society of Echocardiography and the European Association of Cardiovascular Imaging. J Am Soc Echocardiogr 2015;28:1-39.e14.
22. Kosmala W, Plaksej R, Strotmann JM, et al. Progression of left ventricular functional abnormalities in hypertensive patients with heart failure: An ultrasonic two-dimensional speckle tracking study. J Am Soc Echocardiogr 2008;21:1309-17.
23. Kramer J, Niemann M, Liu D, et al. Two-dimensional speckle tracking as a non-invasive tool for identification of myocardial fibrosis in Fabry disease. Eur Heart J 2013;34:1587-96.
24. Rolke R, Baron R, Maier C, et al. Quantitative sensory testing in the German Research Network on Neuropathic Pain (DFNS): standardized protocol and reference values. Pain 2006;123:231-43.
25. Uceyler N, Kafke W, Riediger N, et al. Elevated proinflammatory cytokine expression in affected skin in small fiber neuropathy. Neurology 2010;74:1806-13.
26. Lauria G, Cornblath DR, Johansson O, et al., European federation of neurological societies. efns guidelines on the use of skin biopsy in the diagnosis of peripheral neuropathy. Eur J Neurol 2005;12:747-58.
27. Fazekas F, Chawluk JB, Alavi A, et al. MR signal abnormalities at 1.5 T in Alzheimer's dementia and normal aging. AJR Am J Roentgenol 1987;149:351-6.
28. Aerts JM, Groener JE, Kuiper S, et al. Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc Natl Acad Sci U S A 2008;105:2812-17.
29. Togawa T, Kodama T, Suzuki T, et al. Plasma globotriaosylsphingosine as a biomarker of Fabry disease. Mol Genet Metab 2010;100:257-61.
30. Niemann M, Rolfs A, Störk S, et al. Gene mutations versus clinically relevant phenotypes: lyso-Gb3 defines Fabry disease. Circ Cardiovasc Genet 2014;7:8-16.
31. McHorney CA, Ware JE Jr, Rogers W, et al. The validity and relative precision of MOS short- And long-form health status scales and Dartmouth COOP charts. Results from the Medical Outcomes Study. Med Care 1992;30(Suppl):MS253-65.
32. Gabbay E, Meyer KB, Griffith JL, et al. Temporal trends in health-related quality of life among hemodialysis patients in the United States. Clin J Am Soc Nephrol 2010;5:261-7.
33. Watt T, Burlina AP, Cazzorla C, et al. Agalsidase beta treatment is associated with improved quality of life in patients with Fabry disease: findings from the Fabry Registry. Genet Med 2010;12:703-12.
34. Ware J Jr, Kosinski M, Keller SD. SF-36 physical and mental health summary scales, a user's manual. Booston, MA: The Health Institute, 1994.
35. Magerl W, Krumova EK, Baron R, et al. Reference data for quantitative sensory testing (QST): refined stratification for age and a novel method for statistical comparison of group data. Pain 2010;151:598-605.
36. Eng CM, Resnick-Silverman LA, Niehaus DJ, et al. Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease. Am J Hum Genet 1993;53:1186-97.
37. Lenders M, Karabul N, Duning T, et al. Thromboembolic events in Fabry disease and the impact of factor V Leiden. Neurology 2015;84:1009-16.
38. Schelleckes M, Lenders M, Guske K, et al. Cryptogenic stroke and small fiber neuropathy of unknown etiology in patients with alpha-galactosidase A -10T genotype. Orphanet J Rare Dis 2014;9:178.
39. Tuttolomondo A, Duro G, Pecoraro R, et al. A family with various symptomatology suggestive of Anderson-Fabry disease and a genetic polymorphism of alpha galactosidase A gene. Clin Biochem 2015;48:55-62.
40. Germain DP. A new phenotype of Fabry disease with intermediate severity between the classical form and the cardiac variant. Contrib Nephrol 2001(136):234-40.
41. Lin HY, Chong KW, Hsu JH, et al. High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population. Circ Cardiovasc Genet 2009;2:450-6.
42. Thomas A, Baker R, Mehta A, et al. The N215S mutation results in a distinct subtype of Fabry disease. Mol Genet Metab 2015;114S113.
43. Hwu WL, Chien YH, Lee NC, et al. Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A). Hum Mutat 2009;30:1397-405.
44. Andrade J, Waters PJ, Singh RS, et al. Screening for Fabry disease in patients with chronic kidney disease: limitations of plasma alpha-galactosidase assay as a screening test. Clin J Am Soc Nephrol 2008;3:139-45.
45. Auray-Blais C, Millington DS, Young SP, et al. Proposed high-risk screening protocol for Fabry disease in patients with renal and vascular disease. J Inherit Metab Dis 2009;32:303-8.
46. Bekri S, Enica A, Ghafari T, et al. Fabry disease in patients with end-stage renal failure: The potential benefits of screening. Nephron Clin Pract 2005;101:c33-8.
47. Bouwman MG, De Ru MH, Linthorst GE, et al. Fabry patients' experiences with the timing of diagnosis relevant for the discussion on newborn screening. Mol Genet Metab 2013;109: 201-7.
48. Kotanko P, Kramar R, Devrnja D, et al. Results of a nationwide screening for Anderson-Fabry disease among dialysis patients. J Am Soc Nephrol 2004;15:1323-9.
49. Merta M, Reiterova J, Ledvinova J, et al. A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population. Nephrol Dial Transplant 2007;22:179-86.
50. Spada M, Pagliardini S, Yasuda M, et al. High incidence of later-onset fabry disease revealed by newborn screening. Am J Hum Genet 2006;79:31-40.