Research ArticleOriginal Article
Open Access

Screening for Fabry disease among 619 hemodialysis patients in Saudi Arabia

Salwa A. Alhemyadi, Mamoun Elawad, Konstantinos Fourtounas, Zakaria Abdrabbou, Bellalah Alaraki, Siddeg Younis, Zahir Nawaz, Salem Alqurashi and Sarar Mohamed
Saudi Medical Journal August 2020, 41 (8) 813-818; DOI: https://doi.org/10.15537/smj.2020.8.25184

References

  1. ↵
    1. Germain DP
    (2010) Fabry disease. Orphanet J Rare Dis 5:30.
    OpenUrlCrossRefPubMed
  2. ↵
    (2007) HGMD. The human gene mutation database [Internet], Available from http://www.hgmd.cf.ac.uk/ac/index.php. [Accessed 2020 March 24th].
  3. ↵
    1. Lukas J,
    2. Scalia S,
    3. Eichler S,
    4. Pockrandt AM,
    5. Dehn N,
    6. Cozma C,
    7. et al.
    (2016) Functional and clinical consequences of novel α-Galactosidase a mutations in Fabry disease. Hum Mutat 37:43–51.
    OpenUrlCrossRefPubMed
  4. ↵
    1. van der Tol L,
    2. Smid BE,
    3. Poorthuis BJ,
    4. Biegstraaten M,
    5. Deprez RHL,
    6. Linthorst GE,
    7. et al.
    (2014) A systematic review on screening for Fabry disease:prevalence of individuals with genetic variants of unknown significance. J Med Genet 51:1–9.
    OpenUrlAbstract/FREE Full Text
  5. ↵
    1. Auray-Blais C,
    2. Ntwari A,
    3. Clarke JT,
    4. Warnock DG,
    5. Oliveira J,
    6. Young SP,
    7. et al.
    (2010) How well does urinary lyso-Gb3 function as a biomarker in Fabry disease? Clin Chim Acta 411:1906–1914.
    OpenUrlCrossRefPubMedWeb of Science
  6. ↵
    1. Andrade J,
    2. Waters PJ,
    3. Singh RS,
    4. Levin A,
    5. Toh B,
    6. Vallance HD,
    7. et al.
    (2008) 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 3:139–145.
    OpenUrlAbstract/FREE Full Text
  7. ↵
    1. Lavoie P,
    2. Boutin M,
    3. Auray-Blais C
    (2013) Multiplex analysis of novel urinary lyso-Gb3-related biomarkers for Fabry disease by tandem mass spectrometry. Anal Chem 85:1743–1752.
    OpenUrlCrossRefPubMed
  8. ↵
    1. Lu YH,
    2. Huang PH,
    3. Wang LY,
    4. Hsu T,
    5. Li H,
    6. Lee P,
    7. et al.
    (2018) Improvement in the sensitivity of newborn screening for Fabry disease among females through the use of a high-throughput and cost-effective method, DNA mass spectrometry. J Hum Genet 63:1–8.
    OpenUrl
  9. ↵
    1. Schiffmann R,
    2. Hughes DA,
    3. Linthorst GE,
    4. Ortiz A,
    5. Svarstad E,
    6. Warnock DG,
    7. et al.
    (2017) Screening, diagnosis, and management of patients with Fabry disease:conclusions from a “Kidney disease:improving global outcomes”(KDIGO) controversies conference. Kidney Int 91:284–293.
    OpenUrlPubMed
  10. ↵
    1. Fujii H,
    2. Kono K,
    3. Goto S,
    4. Onishi T,
    5. Kawai H,
    6. Hirata K,
    7. et al.
    (2009) Prevalence and cardiovascular features of Japanese hemodialysis patients with Fabry disease. Am J Nephrol 30:527–535.
    OpenUrlCrossRefPubMed
  11. ↵
    1. Ortiz A,
    2. Cianciaruso B,
    3. Cizmarik M,
    4. Germain DP,
    5. Mignani R,
    6. Oliveira J,
    7. et al.
    (2010) End-stage renal disease in patients with Fabry disease:natural history data from the Fabry registry. Nephrol Dial Transplant 25:769–775.
    OpenUrlCrossRefPubMedWeb of Science
  12. ↵
    1. Jaurretche S,
    2. Antogiovanni N,
    3. Perretta F
    (2017) Prevalence of chronic kidney disease in fabry disease patients:Multicenter cross sectional study in Argentina. Mol Genet Metab Rep 12:41–43.
    OpenUrl
  13. ↵
    1. Linthorst GE,
    2. Bouwman MG,
    3. Wijburg FA,
    4. Aerts JM,
    5. Poorthuis BJ,
    6. Hollak CE
    (2010) Screening for Fabry disease in high-risk populations:a systematic review. J Med Genet 47:217–222.
    OpenUrlAbstract/FREE Full Text
    1. Saito O,
    2. Kusano E,
    3. Akimoto T,
    4. Asano Y,
    5. Kitagawa T,
    6. Suzuki K,
    7. et al.
    (2016) Prevalence of Fabry disease in dialysis patients. Japan Fabry disease screening study (J-FAST). Clin Exp Nephrol 20:284–293.
    OpenUrl
    1. Jahan S,
    2. Sarathchandran S,
    3. Akhter S,
    4. Goldblatt J,
    5. Stark S,
    6. Crawford D,
    7. et al.
    (2020) Prevalence of Fabry disease in dialysis patients:Western Australia Fabry disease screening study - the FoRWARD study. Orphanet J Rare Dis 15:10.
    OpenUrl
  16. ↵
    1. Sayilar EI,
    2. Ayar Y,
    3. Yavuz M
    (2016) Prevalence of Fabry disease among Turkish dialysis patients:Data from hemodialysis centers in Bursa province. Clin Nephrol 85:165–172.
    OpenUrl
  17. ↵
    1. Trachoo O,
    2. Jittorntam P,
    3. Pibalyart S,
    4. Kajanachumphol S,
    5. Suvachittanont N,
    6. Patputthipong S,
    7. et al.
    (2016) Screening of Fabry disease in patients with end-stage renal disease of unknown etiology:the first Thailand study. J Biomed Res 31:17–24.
    OpenUrl
  18. ↵
    1. Moiseev S,
    2. Fomin V,
    3. Savostyanov K,
    4. Pushkov A,
    5. Moiseev A,
    6. Svistunov A,
    7. et al.
    (2019) The Prevalence and clinical features of Fabry disease in hemodialysis patients:Russian nationwide Fabry dialysis screening program. Nephron 141:249–255.
    OpenUrl
  19. ↵
    1. El Dib R,
    2. Gomaa H,
    3. Carvalho RP,
    4. Camargo SE,
    5. Bazan R,
    6. Barretti P,
    7. et al.
    (2016) Enzyme replacement therapy for Anderson-Fabry disease. Cochrane Database Syst Rev 7:CD006663.
    OpenUrl
    1. Spada M,
    2. Baron R,
    3. Elliott PM,
    4. Falissard B,
    5. Hilz MJ,
    6. Monserrat L,
    7. et al.
    (2019) The effect of enzyme replacement therapy on clinical outcomes in paediatric patients with Fabry disease - A systematic literature review by a European panel of experts. Mol Genet Metab 126:212–223.
    OpenUrl
    1. Ortiz A,
    2. Abiose A,
    3. Bichet DG,
    4. Cabrera G,
    5. Charrow J,
    6. Germain DP,
    7. et al.
    (2016) Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β:data from the Fabry registry. J Med Genet 53:495–502.
    OpenUrlAbstract/FREE Full Text
  22. ↵
    1. Colon C,
    2. Ortolano S,
    3. Melcon-Crespo C,
    4. Alvarez JV,
    5. Lopez-Suarez OE,
    6. Couce ML,
    7. et al.
    (2017) Newborn screening for Fabry disease in the north-west of Spain. Eur J Pediatr 176:1075–1081.
    OpenUrl
  23. ↵
    1. Hsu TR,
    2. Niu DM
    (2018) Fabry disease:Review and experience during newborn screening. Trends Cardiovasc Med 28:274–281.
    OpenUrlPubMed
  24. ↵
    1. Chamoles NA,
    2. Blanco M,
    3. Gaggioli D
    (2001) Fabry disease:enzymatic diagnosis in dried blood spots on filter paper. Clin Chim Acta 308:195–196.
    OpenUrlCrossRefPubMedWeb of Science
  25. ↵
    1. De Jesus VR,
    2. Zhang XK,
    3. Keutzer J,
    4. Bodamer OA,
    5. Mühl A,
    6. Orsini JJ,
    7. et al.
    (2009) Development and evaluation of quality control dried blood spot materials in newborn screening for lysosomal storage disorders. Clin Chem 55:158–164.
    OpenUrlAbstract/FREE Full Text
  26. ↵
    1. Gelb MH
    (2018) Newborn screening for lysosomal storage diseases:Methodologies, screen positive rates, normalization of datasets, second-tier tests, and post-analysis tools. Int J Neonatal Screen 4:23.
    OpenUrl
  27. ↵
    (2017) ClinVar. Genomic variation as it relates to human health [Internet], Available from:https://www.ncbi.nlm.nih.gov/clinvar/variation/VCV000217410.1/. Accessed June 2020 26th.
  28. ↵
    1. Lukas J,
    2. Giese AK,
    3. Markoff A,
    4. Grittner U,
    5. Kolodny E,
    6. Mascher H,
    7. et al.
    (2013) Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease. PLoS Genet 9:e1003632.
    OpenUrlCrossRefPubMed
  29. ↵
    The variant database. Saudi Genome Project, Available form URL:https://sso.saudigenomeproject.com. Updated 2020. Accessed 2020 June 16th.
Back to top

In this issue

Print
Download PDF
Email Article
Citation Tools
Bookmark this article

Jump to section

Keywords