Natural history of Fabry disease in females in the Fabry Outcome Survey

Journal of Medical Genetics

Volumn 43, Issue 4, 2006, Pages 347-352

  Deegan, Patrick B ^a   Baehner, A F ^b   Barba Romero, M A ^c   Hughes, D A ^d   Kampmann, C ^b   Beck, M ^b  

^a ADDENBROOKE S HOSPITAL   (United Kingdom)

^b Children's Hospital   (Germany)

^c HOSPITAL GENERAL UNIVERSITARIO DE ALBACETE   (Spain)

^d ROYAL FREE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BRIEF PAIN INVENTORY; CLINICAL FEATURE; DEMOGRAPHY; DISEASE COURSE; DISEASE SEVERITY; ENZYME ACTIVITY; FABRY DISEASE; FEMALE; GLOMERULUS FILTRATION RATE; HEALTH SURVEY; HEART DISEASE; HEART LEFT VENTRICLE MASS; HEART VENTRICLE HYPERTROPHY; HISTORY OF MEDICINE; HUMAN; KIDNEY DISEASE; LONGITUDINAL STUDY; MAJOR CLINICAL STUDY; MORTALITY; OUTCOME ASSESSMENT; PAIN ASSESSMENT; PRIORITY JOURNAL; PROTEINURIA; QUALITY OF LIFE; QUESTIONNAIRE;

ADOLESCENT; ADULT; AGE FACTORS; AGED; ALPHA-GALACTOSIDASE; DISEASE PROGRESSION; ENZYMES; FABRY DISEASE; FEMALE; HEALTH SURVEYS; HEART VENTRICLES; HETEROZYGOTE; HUMANS; ISOENZYMES; MIDDLE AGED; PAIN MEASUREMENT; PROTEINURIA; QUALITY OF LIFE; TREATMENT OUTCOME; VENTRICULAR FUNCTION, LEFT;

EID: 33645781485     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2005.036327     Document Type: Article

References (26)

1. Desnick RJ, Ioannou YA, Eng CM. α-Galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular basis of inherited disease. 8th ed. New York: McGraw-Hill, 2001:3733-74.
2. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA 1999;281:249-54.
3. 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.
4. 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.
5. Kampmann C, Baehner F, Whybra C, Martin C, Wiethoff CM, Ries M, Gal A, Beck M. Cardiac manifestations of Anderson-Fabry disease in heterozygous females. J Am Coll Cardiol 2002;40:1668-74.
6. Guffon N. Clinical presentation in female patients with Fabry disease. J Med Genet 2003;40:e38.
7. Whybra C, Kampmann C, Willers I, Davies J, Winchester B, Kriegsmann J, Bruhl K, Gal A, Bunge S, Beck M. Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes. J Inherit Metab Dis 2001;24:715-24.
8. MacDermot KD, Holmes A, Miners AH. Natural history of Fabry disease in affected males and obligate carrier females. J Inherit Metab Dis 2001;24(Suppl 2):13-14.
9. Eng CM, Guffon N, Wilcox WR, Germain DP, Lee P, Waldek S, Caplan L, Linthorst GE, Desnick RJ. Safety and efficacy of recombinant human alpha-galactosidase A-replacement therapy in Fabry's disease. N Engl J Med 2001;345:9-16.
10. Schiffmann R, Kopp JB, Austin HA 3rd, Sabnis S, Moore DF, Weibel T, Balow JE, Brady RO. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 2001;285:2743-9.
11. Boehner F, Kampmann C, Whybra C, Miebach E, Wiethoff CM, Beck M. Enzyme replacement merapy in heterozygous females with Fabry disease: results of a phase IIIB study. J Inherit Metab Dis 2003;26:617-27.
12. Mehta A, Ricci R, Widmer U, Dehout F, Garcia de Lorenzo A, Kampmann C, Linhart A, Sunder-Plassmann G, Ries M, Beck M. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest 2004;34:236-42.
13. Tan G, Jensen MP, Thornby JI, Shanti BF. Validation of the Brief Pain Inventory for chronic nonmalignant pain. J Pain 2004;5:133-7.
14. Cleeland CS. Pain assessment: the advantages of using pain scales in lysosomal storage diseases. Acta Paediatr Suppl 2002;91:43-7.
15. Cleeland CS, Ryan KM. Pain assessment: global use of the Brief Pain Inventory. Ann Acad Med Singapore 1994;23:129-38.
16. Miners AH, Holmes A, Sherr L, Jenkinson C, MacDermot KD. Assessment of health-related quality-of-life in males with Anderson Fabry Disease before therapeutic intervention. Qual Life Res 2002;11:127-33.
17. Rabin R, de Charro F. EQ-5D: a measure of health status from the EuroQol Group. Ann Med 2001;33:337-43.
18. Whybra C, Kampmann C, Krummenauer F, Ries M, Mengel E, Miebach E, Baehner F, Kim K, Bajbouj M, Schwarting A, Gal A, Beck M. 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.
19. Devereux RB, Alonso DR, Lutas EM, Gottlieb GJ, Campo E, Sachs I, Reichek N. Echocardiographic assessment of left ventricular hypertrophy: comparison to necropsy findings. Am J Cardiol 1986;57:450-8.
20. Levey AS, Coresh J, Balk E, Kausz AT, Levin A, Steffes MW, Hogg RJ, Perrone RD, Lau J, Eknoyan G. National Kidney Foundation practice guidelines for chronic kidney disease: evaluation, classification, and stratification. Ann Intern Med 2003;139:137-47.
21. Kind P, Hardman G, Macran S. UK population norms for EQ-5D. Trans vol ed. York: Centre for Health Economics, 1999:172.
22. Lyon MF. X-chromosome inactivation. Curr Biol 1999;9:R235-7.
23. Dobrovolny R, Dvorakova L, Ledvinova J, Magage S, Bultas J, Lubanda JC, Elleder M, Karetova D, Pavlikova M, Hrebicek M. Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population. J Mol Med 2005;83(8):647-54.
24. Morrone A, Cavicchi C, Bardelli T, Antuzzi D, Parini R, Di Rocco M, Feriozzi S, Gabrielli O, Barone R, Pistone G, Spisni C, Ricci R, Zammarchi E. Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers. J Med Genet 2003;40(8):e103.
25. Dobyns WB, Filauro A, Tomson BN, Chan AS, Ho AW, Ting NT, Oosterwijk JC, Ober C. Inheritance of most X-linked traits is not dominant or recessive, just X-linked. Am J Med Genet A 2004;129(2):136-43.
26. Lilienfeld AM. Practical limitations of epidemiologic methods. Environ Health Perspect 1983;52:3-8.