Skip to main content

Main menu

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

Renal, Ocular, and Neuromuscular Involvements in Patients with CLDN19 Mutations

Stanislas Faguer, Dominique Chauveau, Pascal Cintas, Ivan Tack, Olivier Cointault, Lionel Rostaing, Rosa Vargas-Poussou and David Ribes
CJASN February 2011, 6 (2) 355-360; DOI: https://doi.org/10.2215/CJN.02870310
Stanislas Faguer
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Dominique Chauveau
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Pascal Cintas
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Ivan Tack
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Olivier Cointault
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Lionel Rostaing
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Rosa Vargas-Poussou
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
David Ribes
  • 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.

    Electrophysiological characteristics after prolonged exercise in two patients with CLDN19 mutations. The amplitude of CMAP was significantly decreased after exercise that lasted 5 minutes (according to Fournier et al. [13]). The amplitude of CMAP, recorded from the abductor digiti minimi muscle from 0 to 40 minutes after exercise, is expressed as a percentage of the pre-exercise value. In Patient F1.3, tests were performed while serum Mg2+ and K+ levels were normalized.

  • Figure 2.
    • Download figure
    • Open in new tab
    • Download powerpoint
    Figure 2.

    (A) Localization of CLDN19 mutations on the predicted model of claudin-19. The Val44 residue is localized within the claudin-specific W-GLW-C-C motif. (B) Genomic alignment around the Val44 (V) residue of CLDN19 of seven mammalian species (from the Ensembl database).

Tables

  • Figures
    • View popup
    Table 1.

    Phenotypic characteristics of three individuals with CLDN19 mutation

    CharacteristicPatientNormal Values
    F1.3F1.4F2.3
    GenderFemaleFemaleFemale
    Mutationp.Gly20Asp/p.Val44Metp.Gly20Asp/p.Val44Metp.Gly20Asp/p.Gly20Asp
    Age at renal symptoms onset, years100.916
    Age at tests, years161316
    Organ involvement
        kidneyUTI, NL, NCUTI, NL, NCNC
        eyePM, Strab, nystagmusPMStrab, Myopia, Ir colobomata
        nerveMuscular-exercise intoleranceNoMuscular exercise intolerance
    Blood tests
        SCr, μmol/L180200123
        inulin clearance, ml/min per 1.73 m2——48.8
        eGFR (sMDRD), ml/min per 1.73 m2293053.7
        Mg2+, mmol/L——0.590.73 to 1.06
        K+, mmol/L3.53.33.73.5 to 5
        HCO3−, mmol/L23172821 to 30
        Ca2+, mmol/L2.11.842.352.2 to 2.6
        PO43−, mmol/L1.321.740.820.8 to 1.5
        25(OH)vitamin D3, ng/ml——13.39 to 45
        1,25(OH)2 vitamin D3, pg/ml——6918 to 60
        IPTH, pg/ml—15015515 to 85
        alkaline phosphatase, IU/L207656208100 to 280
    Urinary tests
        FeMg2+, %a——9.9<2%
        Ca2+/Cr ratio, mg/mg0.91.20.9<0.4
        TmPO43−, %——83.5>85
        citrate, mg/24 h101285362.4400 to 900
        oxalate, μmol/24 h186163232.8200 to 450
        pH (nocturnal)——6.36
        proteinuria, mg/24 h——510<300
        hematuria, (0 to 3+)000
        drug intakeCalcium pyridoxineCalcium pyridoxineNo
    Renal outcome
        eGFR (sMDRD)ESRD (at age 22)ESRD (at age 16)51 (at age 17)
    • UTI, urinary-tract infection; NL, nephrolithiasis; NC, nephrocalcinosis; SCr, serum creatinine; PM, pigmentary maculopathy; Strab, strabismus; Ir, Iris; sMDRD, standard Modifications of Diet in Renal Disease equation; TmPO43−, maximum rate of renal tubular reabsorption of phosphate.

    • ↵a FeMg2+ was calculated as follows: urinary/plasma [Mg2+]/urinary/plasma [creatinine].

PreviousNext
Back to top

In this issue

Clinical Journal of the American Society of Nephrology: 6 (2)
Clinical Journal of the American Society of Nephrology
Vol. 6, Issue 2
1 Feb 2011
  • 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.
Renal, Ocular, and Neuromuscular Involvements in Patients with CLDN19 Mutations
(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
Renal, Ocular, and Neuromuscular Involvements in Patients with CLDN19 Mutations
Stanislas Faguer, Dominique Chauveau, Pascal Cintas, Ivan Tack, Olivier Cointault, Lionel Rostaing, Rosa Vargas-Poussou, David Ribes
CJASN Feb 2011, 6 (2) 355-360; DOI: 10.2215/CJN.02870310

Citation Manager Formats

  • BibTeX
  • Bookends
  • EasyBib
  • EndNote (tagged)
  • EndNote 8 (xml)
  • Medlars
  • Mendeley
  • Papers
  • RefWorks Tagged
  • Ref Manager
  • RIS
  • Zotero
Request Permissions
Share
Renal, Ocular, and Neuromuscular Involvements in Patients with CLDN19 Mutations
Stanislas Faguer, Dominique Chauveau, Pascal Cintas, Ivan Tack, Olivier Cointault, Lionel Rostaing, Rosa Vargas-Poussou, David Ribes
CJASN Feb 2011, 6 (2) 355-360; DOI: 10.2215/CJN.02870310
del.icio.us logo Digg logo Reddit logo Twitter logo Facebook logo Google logo Mendeley logo
  • Tweet Widget
  • Facebook Like

Jump to section

  • Article
    • Summary
    • Introduction
    • Patients
    • Discussion
    • Disclosures
    • Footnotes
    • References
  • Figures & Data Supps
  • Info & Metrics
  • View PDF

More in this TOC Section

Original Articles

  • Association of Polypharmacy with Kidney Disease Progression in Adults with CKD
  • The Effect of Atrasentan on Kidney and Heart Failure Outcomes by Baseline Albuminuria and Kidney Function
  • Collectin11 and Complement Activation in IgA Nephropathy
Show more Original Articles

Hereditary Disease

  • 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...

  • Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations
  • Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis: Phenotype-Genotype Correlation and Outcome in 32 Patients with CLDN16 or CLDN19 Mutations
  • 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 to ASN Journals

© 2022 American Society of Nephrology

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

Powered by HighWire