Skip to main content

Main menu

  • Home
  • Content
    • Published Ahead of Print
    • Current Issue
    • Podcasts
    • Subject Collections
    • Archives
    • ASN Meeting Abstracts
    • Saved Searches
  • Authors
    • Submit a Manuscript
    • Author Resources
    • Reprint Information
  • Trainees
    • Peer Review Program
    • Prize Competition
  • About CJASN
    • About CJASN
    • Editorial Team
    • CJASN Impact
    • CJASN Recognitions
  • More
    • Alerts
    • Advertising
    • Reprint Information
    • Subscriptions
    • Feedback
  • ASN Kidney News
  • Other
    • JASN
    • Kidney360
    • Kidney News Online
    • American Society of Nephrology

User menu

  • Subscribe
  • My alerts
  • Log in
  • My Cart

Search

  • Advanced search
American Society of Nephrology
  • Other
    • JASN
    • Kidney360
    • Kidney News Online
    • American Society of Nephrology
  • Subscribe
  • My alerts
  • Log in
  • My Cart
Advertisement
American Society of Nephrology

Advanced Search

  • Home
  • Content
    • Published Ahead of Print
    • Current Issue
    • Podcasts
    • Subject Collections
    • Archives
    • ASN Meeting Abstracts
    • Saved Searches
  • Authors
    • Submit a Manuscript
    • Author Resources
    • Reprint Information
  • Trainees
    • Peer Review Program
    • Prize Competition
  • About CJASN
    • About CJASN
    • Editorial Team
    • CJASN Impact
    • CJASN Recognitions
  • More
    • Alerts
    • Advertising
    • Reprint Information
    • Subscriptions
    • Feedback
  • ASN Kidney News
  • Visit ASN on Facebook
  • Follow CJASN on Twitter
  • CJASN RSS
  • Community Forum
Hereditary Disease
You have accessRestricted Access

Screening for Fabry Disease in Patients with Chronic Kidney Disease: Limitations of Plasma α-Galactosidase Assay as a Screening Test

Jason Andrade, Paula J. Waters, R. Suneet Singh, Adeera Levin, Bee-Chin Toh, Hilary D. Vallance and Sandra Sirrs
CJASN January 2008, 3 (1) 139-145; DOI: https://doi.org/10.2215/CJN.02490607
Jason Andrade
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Paula J. Waters
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
R. Suneet Singh
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Adeera Levin
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Bee-Chin Toh
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Hilary D. Vallance
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Sandra Sirrs
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • Article
  • Figures & Data Supps
  • Info & Metrics
  • View PDF
Loading

Article Figures & Data

Figures

  • Tables
  • Figure 1.
    • Download figure
    • Open in new tab
    • Download powerpoint
    Figure 1.

    (A) Upper histogram. Plasma α-galactosidase results in the study cohort of patients with chronic kidney disease (CKD; n = 499; observed range of activities 1.6 to 23.8 nmol/h per ml plasma; median 5.5; mean 5.8). Eleven patients had α-galactosidase activity below the second percentile of this group (<3.0 nmol/h per ml plasma). (B) Lower histogram. Plasma α-galactosidase in healthy control subjects (n = 44; observed range of activities 3.0 to 8.1 nmol/h per ml plasma; median 5.2; mean 5.2).

Tables

  • Figures
    • View popup
    Table 1.

    Demographic characteristics of study cohorta

    VariableCKDHDPDTP
    Total14115959138
    Age (yr)63676049
    Diabetes (%)42383733
    CVD (%)48674723
    Race (%)
        White71284365
        Asian15593821
        Southeast Asian11121610
        Native Canadian1132
        Other2113
    • ↵a There were no significant differences in race, age, and presence of diabetes or cardiovascular disease between the study cohort and the entire male chronic kidney disease (CKD) population in Vancouver, BC. CVD, cardiovascular disease; HD, hemodialysis; PD, peritoneal dialysis; TP renal transplant.

    • View popup
    Table 2.

    Comparison of α-galactosidase activity assayed from healthy individuals in the presence and absence of GalNAc inhibitora

    ParameterTotal α-Galactosidase (Assayed without Inhibitor)α-Galactosidase A (Assayed with 100 mM GalNAc)α-Galactosidase B (by subtraction)α-Galactosidase B as % of Total
    Plasma (nmol/h per ml plasma; n = 20 individuals)
        mean5.35.00.36.0
        median5.34.90.36.1
        observed range3.4 to 7.13.1 to 7.00.0 to 1.00.0 to 18.1
    Leucocytes (nmol/h per mg protein; n = 30 individuals)
        mean81.779.32.32.8
        median77.377.72.03.0
        observed range49.9 to 126.347.2 to 124.30.0 to 8.00.0 to 7.6
    • ↵a GalNAc, N-acetylgalactosamine.

    • View popup
    Table 3.

    Activities of α -galactosidase in leukocytes and plasma of five renal patients who had low plasma α-galactosidase activity in the initial screening phase of the studya

    PatientLeukocytes (nmol/h per mg protein)Plasma (nmol/h per ml)
    Initial Result (No GalNAc Inhibitor)Results on RecallInitial Result (No GalNAc Inhibitor)Results on Recall
    TotalTotalATotalTotalA
    166.751.051.31.62.31.5
    2125.089.787.22.85.85.6
    373.660.155.92.95.95.6
    494.160.360.02.94.54.1
    558.834.733.72.54.54.1
    • ↵a In the initial phase, only total α-galactosidase activity was measured. When these patients were recalled for a second time, assays were performed both without and with 100 mM GalNAc inhibitor (thus measuring “Total” and “A” activity, respectively). Reference range for total activity in leukocytes 42.1 to 112.9 nmol/h per mg protein; reference range for total activity in plasma 3.0 to 8.1 nmol/h per ml.

    • View popup
    Table 4.

    α-Galactosidase activities in plasma and leukocytes from three known patients with Fabry diseasea

    PatientPlasma (nmol/h per ml)Leukocytes (nmol/h per mg protein)
    TotalABTotalAB
    10.60.00.612.66.95.7
    23.63.60.09.35.24.1
    38.07.20.73.92.31.7
    • ↵a Activities were assayed in the absence and presence of 100 mM GalNAc inhibitor (thus measuring “Total” and “A,” respectively). Reference range for total activity in leucocytes 42.1 to 112.9 nmol/h per mg protein; reference range for total activity in plasma 3.0 to 8.1 nmol/h per ml.

PreviousNext
Back to top

In this issue

Clinical Journal of the American Society of Nephrology
Vol. 3, Issue 1
January 2008
  • Table of Contents
  • Table of Contents (PDF)
  • Index by author
View Selected Citations (0)
Print
Download PDF
Sign up for Alerts
Email Article
Thank you for your help in sharing the high-quality science in CJASN.
Enter multiple addresses on separate lines or separate them with commas.
Screening for Fabry Disease in Patients with Chronic Kidney Disease: Limitations of Plasma α-Galactosidase Assay as a Screening Test
(Your Name) has sent you a message from American Society of Nephrology
(Your Name) thought you would like to see the American Society of Nephrology web site.
CAPTCHA
This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.
Citation Tools
Screening for Fabry Disease in Patients with Chronic Kidney Disease: Limitations of Plasma α-Galactosidase Assay as a Screening Test
Jason Andrade, Paula J. Waters, R. Suneet Singh, Adeera Levin, Bee-Chin Toh, Hilary D. Vallance, Sandra Sirrs
CJASN Jan 2008, 3 (1) 139-145; DOI: 10.2215/CJN.02490607

Citation Manager Formats

  • BibTeX
  • Bookends
  • EasyBib
  • EndNote (tagged)
  • EndNote 8 (xml)
  • Medlars
  • Mendeley
  • Papers
  • RefWorks Tagged
  • Ref Manager
  • RIS
  • Zotero
Request Permissions
Share
Screening for Fabry Disease in Patients with Chronic Kidney Disease: Limitations of Plasma α-Galactosidase Assay as a Screening Test
Jason Andrade, Paula J. Waters, R. Suneet Singh, Adeera Levin, Bee-Chin Toh, Hilary D. Vallance, Sandra Sirrs
CJASN Jan 2008, 3 (1) 139-145; DOI: 10.2215/CJN.02490607
del.icio.us logo Digg logo Reddit logo Twitter logo CiteULike logo Facebook logo Google logo Mendeley logo
  • Tweet Widget
  • Facebook Like

Jump to section

  • Article
    • Abstract
    • CONCISE METHODS
    • Results
    • Discussion
    • Disclosures
    • Acknowledgments
    • Footnotes
    • References
  • Figures & Data Supps
  • Info & Metrics
  • View PDF

More in this TOC Section

  • Familial C3 Glomerulopathy Associated with CFHR5 Mutations: Clinical Characteristics of 91 Patients in 16 Pedigrees
  • Clinical Utility of Genetic Testing in Children and Adults with Steroid-Resistant Nephrotic Syndrome
  • Recurrent Deep Intronic Mutations in the SLC12A3 Gene Responsible for Gitelman's Syndrome
Show more Hereditary Disease

Cited By...

  • Fabry Disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac and stroke clinics, 1995-2017
  • Challenges in the Diagnosis of Anderson-Fabry Disease: A Deceptively Simple and Yet Complicated Genetic Disease
  • Organ manifestations and long-term outcome of Fabry disease in patients with the GLA haplotype D313Y
  • A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance
  • Screening of Male Dialysis Patients for Fabry Disease by Plasma Globotriaosylsphingosine
  • Screening patients with hypertrophic cardiomyopathy for Fabry disease using a filter-paper test: the FOCUS study
  • Screening for Fabry disease in high-risk populations: a systematic review
  • Dialysis and Transplantation in Fabry Disease: Indications for Enzyme Replacement Therapy
  • Google Scholar

Similar Articles

Related Articles

  • No related articles found.
  • PubMed
  • Google Scholar

Articles

  • Current Issue
  • Early Access
  • Subject Collections
  • Article Archive
  • ASN Meeting Abstracts

Information for Authors

  • Submit a Manuscript
  • Trainee of the Year
  • Author Resources
  • ASN Journal Policies
  • Reuse/Reprint Policy

About

  • CJASN
  • ASN
  • ASN Journals
  • ASN Kidney News

Journal Information

  • About CJASN
  • CJASN Email Alerts
  • CJASN Key Impact Information
  • CJASN Podcasts
  • CJASN RSS Feeds
  • Editorial Board

More Information

  • Advertise
  • ASN Podcasts
  • ASN Publications
  • Become an ASN Member
  • Feedback
  • Follow on Twitter
  • Password/Email Address Changes
  • Subscribe

© 2021 American Society of Nephrology

Print ISSN - 1555-9041 Online ISSN - 1555-905X

Powered by HighWire