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</div>
<div class="action-panel-control-wrap">
<label for="email-from" class="action-panel-label">
From:
</label>
<input type="email" aria-label="Sender Email Address" placeholder="email@example.com" id="email-from" class="email-from" pattern="^[a-zA-Z0-9_.+-]+@[a-zA-Z0-9-]+\.[a-zA-Z0-9-.]+$" maxlength="256">
</div>
<div class="action-panel-control-wrap">
<label for="email-citation-format" class="action-panel-label">
Format:
</label>
<select id="email-citation-format" name="citation-format" class="action-panel-selector email-citation-format">
<option selected="selected" value="summary">Summary</option>
<option value="summary-text">Summary (text)</option>
<option value="abstract">Abstract</option>
<option value="abstract-text">Abstract (text)</option>
</select>
</div>
<div class="include-supplemental-container">
<input type="checkbox" aria-label="Include MeSH and other data" name="include-supplemental" id="email-include-supplemental" class="email-include-supplemental">
<label for="email-include-supplemental" class="email-include-supplemental-label">MeSH and other data</label>
</div>
<div class="form-field recaptcha ">
<div class="g-recaptcha" id="id-recaptcha" data-sitekey="6LfsWHMdAAAAAClKbtOpjQ2pMjgsGxvv7NdZW9uI"></div>
</div>
<div id="captcha-error-message" class="usa-input-error-message captcha-validation-message" role="alert"></div>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Sending..."
data-ga-category="save_share"
data-ga-action="email"
data-ga-label="send">
Send email
</button>
<button class="action-panel-cancel"
aria-label="Close 'Email citations' panel"
ref="linksrc=close_email_panel"
aria-controls="email-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="email"
data-ga-label="cancel">
Cancel
</button>
</div>
<input type="hidden" name="email-search-details" value="" />
<input type="hidden" name="email-search-details-hash" value="0e42663a6c3bd85498fcb88798998fed7bfdc45d457db35281e41afe13cc0524" />
</form>
</div>
</div>
<div id="collections-action-panel"
class="collections-action-panel action-panel in-progress-dots-panel"
aria-hidden="true"
data-collections-open-panel-enabled="false"
data-collections-open-panel-url-hash="#open-collections-panel">
<div class="inner-wrap">
<h3 class="action-panel-heading">
Add to Collections
</h3>
<form id="collections-action-panel-form"
class="collections-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
data-existing-collections-url="/list-existing-collections/"
data-add-to-existing-collection-url="/add-to-existing-collection/"
data-create-and-add-to-new-collection-url="/create-and-add-to-new-collection/"
data-get-article-ids-by-search-url="/get-article-ids-by-search/"
data-myncbi-max-collection-name-length="100"
data-add-to-collection-max-amount="1000"
data-collections-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/">
<input type="hidden" name="csrfmiddlewaretoken" value="1tKkyXLUI6YukrokNtjCH1RcVsJ72wq2igupbNegiHLYeSuaqMWEb9nQtwrjV7Ym">
<div class="choice-group" role="radiogroup">
<ul class="radio-group-items">
<li>
<input type="radio"
id="collections-action-panel-new"
class="collections-new"
name="collections"
value="new"
data-ga-category="save_share"
data-ga-action="collections"
data-ga-label="collections_radio_new">
<label for="collections-action-panel-new">Create a new collection</label>
</li>
<li>
<input type="radio"
id="collections-action-panel-existing"
class="collections-existing"
name="collections"
value="existing"
checked="true"
data-ga-category="save_share"
data-ga-action="collections"
data-ga-label="collections_radio_existing">
<label for="collections-action-panel-existing">Add to an existing collection</label>
</li>
</ul>
</div>
<div class="controls-wrapper">
<div class="action-panel-control-wrap new-collections-controls">
<label for="collections-action-panel-add-to-new" class="action-panel-label required-field-asterisk">
Name your collection:
</label>
<input
type="text"
name="add-to-new-collection"
id="collections-action-panel-add-to-new"
class="collections-action-add-to-new"
pattern="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/"
maxlength="100"
data-ga-category="save_share"
data-ga-action="create_collection"
data-ga-label="non_favorties_collection">
<div class="collections-new-name-too-long usa-input-error-message selection-validation-message">
Name must be less than 100 characters
</div>
</div>
<div class="action-panel-control-wrap existing-collections-controls">
<label for="collections-action-panel-add-to-existing" class="action-panel-label">
Choose a collection:
</label>
<select id="collections-action-panel-add-to-existing"
class="action-panel-selector collections-action-add-to-existing"
data-ga-category="save_share"
data-ga-action="select_collection"
data-ga-label="($('#collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'">
</select>
<div class="collections-retry-load-on-error usa-input-error-message selection-validation-message">
Unable to load your collection due to an error<br>
<a href="#">Please try again</a>
</div>
</div>
</div>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Adding..."
data-pinger-ignore
data-ga-category="save_share"
data-ga-action="collections"
data-ga-label="add">
Add
</button>
<button class="action-panel-cancel"
aria-label="Close 'Add to Collections' panel"
ref="linksrc=close_collections_panel"
aria-controls="collections-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="collections"
data-ga-label="cancel">
Cancel
</button>
</div>
</form>
</div>
</div>
<div id="bibliography-action-panel"
class="bibliography-action-panel action-panel in-progress-dots-panel"
aria-hidden="true"
data-bibliography-open-panel-enabled="false"
data-bibliography-open-panel-url-hash="#open-bibliography-panel">
<div class="inner-wrap">
<h3 class="action-panel-heading">
Add to My Bibliography
</h3>
<form id="bibliography-action-panel-form"
class="bibliography-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
data-add-to-bibliography-max-amount="100"
data-add-to-bibliography-batch-size="10"
data-bibliography-delegates-url="/list-bibliography-delegates/"
data-add-to-bibliography-url="/add-to-bibliography/"
data-get-article-ids-by-search-url="/get-article-ids-by-search/"
data-mybib-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/mybibliography/">
<input type="hidden" name="csrfmiddlewaretoken" value="1tKkyXLUI6YukrokNtjCH1RcVsJ72wq2igupbNegiHLYeSuaqMWEb9nQtwrjV7Ym">
<div class="action-panel-control-wrap bibliographies-controls">
<div class="choice-group">
<ul class="bibliographies-action-add radio-group-items">
<li>
<input name="bibliography" id="my-bibliography" class="my-bibliography" type="radio" checked/>
<label for="my-bibliography">My Bibliography</label>
</li>
</ul>
</div>
</div>
<div class="bibliographies-retry-load-on-error usa-input-error-message selection-validation-message">
Unable to load your delegates due to an error<br>
<a href="#">Please try again</a>
</div>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Adding..."
data-pinger-ignore>
Add
</button>
<button class="action-panel-cancel"
aria-label="Close 'Add to bibliography' panel"
ref="linksrc=close_bibliography_panel"
aria-controls="bibliography-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="mybib"
data-ga-label="cancel">
Cancel
</button>
</div>
</form>
</div>
</div>
<div id="saved-search-action-panel" class="saved-search-action-panel action-panel " aria-hidden="true"
data-saved-search-open-panel-enabled="false"
data-saved-search-open-panel-url-hash="#open-saved-search-panel">
<div class="inner-wrap">
<h2 class="action-panel-heading">
Your saved search
</h2>
<form id="saved-search-action-panel-form"
class="saved-search-action-panel-form action-panel-content action-form"
data-create-saved-search-url="/create-saved-search/"
data-try-search-terms-url="/try-search-term/"
data-saved-search-root-url="https://www.ncbi.nlm.nih.gov/myncbi/searches/">
<input type="hidden" name="csrfmiddlewaretoken" value="1tKkyXLUI6YukrokNtjCH1RcVsJ72wq2igupbNegiHLYeSuaqMWEb9nQtwrjV7Ym">
<div class="action-panel-control-wrap">
<label for="saved-search-name" class="action-panel-label saved-search-name-label required-field-asterisk">
Name of saved search:
</label>
<input maxlength="200"
type="text"
name="saved-search-name"
id="saved-search-name"
class="saved-search-name"
value=""
required
pattern="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/">
</div>
<div class="action-panel-control-wrap">
<label for="saved-search-term" class="action-panel-label required-field-asterisk">
Search terms:
</label>
<textarea name="saved-search-term" id="saved-search-term" class="saved-search-term" required></textarea>
</div>
<div class="test-search-term-wrap">
<a href="#" class="try-search-term">Test search terms</a>
</div>
<div class="choice-group action-panel-extra-margin-top">
<span class="action-panel-label" id="fieldset-label">
Would you like email updates of new search results?
</span>
<fieldset id="saved-search-alert" aria-describedby="fieldset-label">
<legend class="usa-sr-only">Saved Search Alert Radio Buttons</legend>
<ul class="radio-group-items">
<li>
<input type="radio" id="saved-search-alert-yes" class="saved-search-alert-yes" name="saved-search-alert" value="yes" checked>
<label for="saved-search-alert-yes" class="action-panel-label">Yes</label>
</li>
<li>
<input aria-label="No radio input" type="radio" id="saved-search-alert-no" class="saved-search-alert-no" name="saved-search-alert" value="no">
<label for="saved-search-alert-no" class="action-panel-label">No</label>
</li>
</ul>
</fieldset>
</div>
<div class="alert-schedule-wrap">
<div class="action-panel-control-wrap">
<label class="action-panel-label">
Email:
</label>
<span aria-label="Email address" id="saved-search-email" class="action-panel-label"><span class="action-panel-label-bold"></span> (<a class="myncbi-account-settings" href="https://www.ncbi.nlm.nih.gov/account/settings/">change</a>)</span>
</div>
<div class="action-panel-control-wrap action-panel-extra-margin-top">
<label for="saved-search-frequency" class="action-panel-label">
Frequency:
</label>
<select id="saved-search-frequency" class="no-border-panel-selector saved-search-frequency">
<option value="monthly">Monthly</option>
<option value="weekly">Weekly</option>
<option value="daily">Daily</option>
</select>
</div>
<div class="action-panel-control-wrap saved-search-monthly-additional">
<label for="saved-search-monthly-on-day" class="action-panel-label">
Which day?
</label>
<select id="saved-search-monthly-on-day" class="no-border-panel-selector">
<option value="Sunday">The first Sunday</option>
<option value="Monday">The first Monday</option>
<option value="Tuesday">The first Tuesday</option>
<option value="Wednesday">The first Wednesday</option>
<option value="Thursday">The first Thursday</option>
<option value="Friday">The first Friday</option>
<option value="Saturday">The first Saturday</option>
<option value="day">The first day</option>
<option value="weekday">The first weekday</option>
</select>
</div>
<div class="action-panel-control-wrap saved-search-weekly-additional">
<label for="saved-search-weekly-on-day" class="action-panel-label">
Which day?
</label>
<select id="saved-search-weekly-on-day" class="no-border-panel-selector saved-search-weekly-on-day">
<option value="Sunday">Sunday</option>
<option value="Monday">Monday</option>
<option value="Tuesday">Tuesday</option>
<option value="Wednesday">Wednesday</option>
<option value="Thursday">Thursday</option>
<option value="Friday">Friday</option>
<option value="Saturday">Saturday</option>
</select>
</div>
<div class="action-panel-control-wrap">
<label for="saved-search-report" class="action-panel-label">
Report format:
</label>
<select id="saved-search-report" class="no-border-panel-selector saved-search-report">
<option value="DocSum">Summary</option>
<option value="DocSumText">Summary (text)</option>
<option value="Abstract">Abstract</option>
<option value="AbstractText">Abstract (text)</option>
<option value="MEDLINE">PubMed</option>
</select>
</div>
<div class="action-panel-control-wrap">
<label for="saved-search-amount" class="action-panel-label">
Send at most:
</label>
<select id="saved-search-amount" class="no-border-panel-selector saved-search-amount">
<option value="1">1 item</option>
<option value="5" selected>5 items</option>
<option value="10">10 items</option>
<option value="20">20 items</option>
<option value="50">50 items</option>
<option value="100">100 items</option>
<option value="200">200 items</option>
</select>
</div>
<div>
<input type="checkbox" id="saved-search-send-if-no-result" class="saved-search-send-if-no-result" name="saved-search-send-if-no-result">
<label for="saved-search-send-if-no-result" class="action-panel-label smaller-checkbox">
Send even when there aren't any new results
</label>
</div>
<div class="action-panel-control-wrap option-text-in-email-wrap">
<label for="saved-search-email-text" class="action-panel-label">
Optional text in email:
</label>
<textarea name="saved-search-email-text"
id="saved-search-email-text"
class="saved-search-email-text"></textarea>
</div>
</div>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Saving..."
data-ga-category="save_share"
data-ga-action="alert"
data-ga-label="save">
Save
</button>
<button class="action-panel-cancel"
aria-label="Close 'Your saved search' panel"
ref="linksrc=close_saved_search_panel"
aria-controls="saved-search-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="alert"
data-ga-label="cancel">
Cancel
</button>
</div>
</form>
</div>
</div>
<div id="citation-manager-action-panel" class="citation-manager-action-panel action-panel" aria-hidden="true">
<div class="inner-wrap">
<h2 class="action-panel-heading">
Create a file for external citation management software
</h2>
<form id="citation-manager-action-panel-form"
class="action-panel-content action-form"
action="/results-export-ids/"
data-by-search-action="/results-export-search-data/"
data-by-ids-action="/results-export-ids/"
method="post"
data-by-search-method="post"
data-by-ids-method="post">
<input type="hidden" name="csrfmiddlewaretoken" value="1tKkyXLUI6YukrokNtjCH1RcVsJ72wq2igupbNegiHLYeSuaqMWEb9nQtwrjV7Ym">
<input name="results-format" type="hidden" value="pubmed"/>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Sending..."
data-ga-category="save_share"
data-ga-action="citation_manager"
data-ga-label="save">
Create file
</button>
<button class="action-panel-cancel"
aria-label="Close 'Send citations to citation manager' panel"
ref="linksrc=close_citation_manager_panel"
aria-controls="citation-manager-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="citation_manager"
data-ga-label="cancel">
Cancel
</button>
</div>
</form>
</div>
</div>
<div id="rss-action-panel" class="rss-action-panel action-panel " aria-hidden="true">
<div class="inner-wrap">
<h2 class="action-panel-heading">
Your RSS Feed
</h2>
<form id="rss-action-panel-form"
class="rss-action-panel-form action-panel-content action-form"
data-create-rss-feed-url="/create-rss-feed-url/"
data-search-form-term-value="">
<input type="hidden" name="csrfmiddlewaretoken" value="1tKkyXLUI6YukrokNtjCH1RcVsJ72wq2igupbNegiHLYeSuaqMWEb9nQtwrjV7Ym">
<div class="action-panel-control-wrap">
<label for="rss-name" class="action-panel-label required-field-asterisk">
Name of RSS Feed:
</label>
<input maxlength="200"
placeholder="Name"
type="text"
name="rss-name"
id="rss-name"
class="rss-name"
value=''
required
pattern="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/">
</div>
<div class="rss-limit-wrap">
<div class="action-panel-control-wrap action-panel-extra-margin-top">
<label for="rss-limit" class="action-panel-label">
Number of items displayed:
</label>
<select id="rss-limit" class="no-border-panel-selector rss-limit">
<option value="5">5</option>
<option value="10">10</option>
<option value="15" selected="selected">15</option>
<option value="20">20</option>
<option value="50">50</option>
<option value="100">100</option>
</select>
</div>
</div>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Creating..."
data-ga-category="save_share"
data-ga-action="alert"
data-ga-label="save">
Create RSS
</button>
<button class="action-panel-cancel"
aria-label="Close 'Your RSS' panel"
ref="linksrc=close_rss_panel"
aria-controls="rss-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="alert"
data-ga-label="cancel">
Cancel
</button>
</div>
<div class="action-panel-control-wrap rss-link-copy-wrap">
<label for="rss-link" class="usa-sr-only">RSS Link</label>
<input placeholder="Your RSS Feed Link" type="text" name="rss-link" id="rss-link" class="rss-link" title="RSS Link">
<button
type="button"
disabled
class="rss-link-copy-button disabled"
data-ga-category="save_share"
data-ga-action="rss"
data-ga-label="copy">
Copy
</button>
</div>
</form>
</div>
</div>
</div>
</div>
<div class="article-page" id="article-page" data-article-pmid="25349199">
<aside class="page-sidebar">
<div class="inner-wrap">
<div class="full-text-links">
<div class="full-view">
<h3 class="title">
Full text links
</h3>
<div class="full-text-links-list">
<a class="link-item
dialog-focus"
href="https://doi.org/10.1681/ASN.2014050489"
target="_blank"
rel="noopener"
ref="linksrc=fulltextorjournal_fulltext&amp;is_pmc=False&amp;PrId=3159&amp;itool=Abstract-def&amp;log$=linkouticon&amp;uid=25349199&amp;db=pubmed&amp;nlmid=9013836"
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Wolters Kluwer
</span></a><a class="link-item
pmc
"
href="https://pmc.ncbi.nlm.nih.gov/articles/pmid/25349199/"
target="_blank"
rel="noopener"
ref="linksrc=fulltextorjournal_fulltext&amp;is_pmc=True&amp;PrId=3494&amp;itool=Abstract-def&amp;log$=linkouticon&amp;uid=25349199&amp;db=pubmed&amp;nlmid=9013836"
title="Free full text at PubMed Central"
data-ga-category="full_text"
data-ga-action="PMC"
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Free PMC article
</span></a>
</div>
</div>
<div class="short-view">
<a href="#" class="full-text-links-button full-text-links-dialog-trigger">
Full text links
</a>
</div>
</div>
<div class="actions-buttons sidebar"><h3 class="title">Actions</h3><div class="inner-wrap"><button class="citation-button citation-dialog-trigger"
aria-label="Open dialog with citation text in different styles"
data-ga-category="save_share"
data-ga-action="cite"
data-ga-label="open"
data-all-citations-url="/25349199/citations/"
data-citation-style="nlm"
data-pubmed-format-link="/25349199/export/"><span class="button-label">Cite</span></button><link type="text/css" href="ncbi-overlay-block/src/overlay-block.css"><div class="collections-button-container" data-article-id="25349199" data-article-db="pubmed"><button class="collections-button collections-dialog-trigger"
aria-label="Save article in MyNCBI collections."
data-ga-category="collections_button"
data-ga-action="click"
data-ga-label="collections_button"
data-collections-open-dialog-enabled="false"
data-collections-open-dialog-url="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F25349199%2F%23open-collections-dialog"
data-in-collections="false"><span class="button-label">Collections</span></button><div class="overlay" role="dialog"><div id="collections-action-dialog"
class="dialog collections-dialog"
aria-hidden="true"><div class="title">Add to Collections</div><div class="collections-action-panel action-panel"><form id="collections-action-dialog-form"
class="collections-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
data-existing-collections-url="/list-existing-collections/"
data-add-to-existing-collection-url="/add-to-existing-collection/"
data-create-and-add-to-new-collection-url="/create-and-add-to-new-collection/"
data-myncbi-max-collection-name-length="100"
data-collections-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/"><input type="hidden" name="csrfmiddlewaretoken" value="1tKkyXLUI6YukrokNtjCH1RcVsJ72wq2igupbNegiHLYeSuaqMWEb9nQtwrjV7Ym"><div class="choice-group" role="radiogroup"><ul class="radio-group-items"><li><input type="radio"
id="collections-action-dialog-new"
class="collections-new"
name="collections"
value="new"
data-ga-category="collections_button"
data-ga-action="click"
data-ga-label="collections_radio_new"><label for="collections-action-dialog-new">Create a new collection</label></li><li><input type="radio"
id="collections-action-dialog-existing"
class="collections-existing"
name="collections"
value="existing"
checked="true"
data-ga-category="collections_button"
data-ga-action="click"
data-ga-label="collections_radio_existing"><label for="collections-action-dialog-existing">Add to an existing collection</label></li></ul></div><div class="controls-wrapper"><div class="action-panel-control-wrap new-collections-controls"><label for="collections-action-dialog-add-to-new" class="action-panel-label required-field-asterisk">
Name your collection:
</label><input
type="text"
name="add-to-new-collection"
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<h1 class="heading-title">
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome
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data-ga-label="SRNS Study Group">SRNS Study Group</a><span class="semicolon">;&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Friedhelm Hildebrandt">Friedhelm Hildebrandt</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Nephrology, Department of Medicine, Boston Children&#x27;s Hospital, Harvard Medical School, Boston, Massachusetts; Howard Hughes Medical Institute, Chevy Chase, Maryland friedhelm.hildebrandt@childrens.harvard.edu." href="#full-view-affiliation-11" ref="linksrc=author_aff">
11
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Collaborators,
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<h3 class="title">
Collaborators
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<li>
<strong class="title">SRNS Study Group</strong>:
<div class="authors-list">
<span class="authors-list-item "><a class="full-name"
href="/?term=Repetto+HA"
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data-ga-action="author_link"
data-ga-label="H A Repetto">H A Repetto</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=MacTaggart+P"
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data-ga-label="P MacTaggart">P MacTaggart</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Johnstone+L"
ref="linksrc=author_name_link"
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data-ga-label="L Johnstone">L Johnstone</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Alexander+S"
ref="linksrc=author_name_link"
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data-ga-label="S Alexander">S Alexander</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Hodson+E"
ref="linksrc=author_name_link"
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data-ga-label="E Hodson">E Hodson</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Mache+C"
ref="linksrc=author_name_link"
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data-ga-action="author_link"
data-ga-label="C Mache">C Mache</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Jungraithmayr+TC"
ref="linksrc=author_name_link"
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data-ga-action="author_link"
data-ga-label="T C Jungraithmayr">T C Jungraithmayr</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Aufricht+C"
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data-ga-label="C Aufricht">C Aufricht</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Arbeiter+K"
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data-ga-label="K Arbeiter">K Arbeiter</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Lilova+M"
ref="linksrc=author_name_link"
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data-ga-label="M Lilova">M Lilova</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Sweeny+C"
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data-ga-label="C Sweeny">C Sweeny</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Filler+G"
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data-ga-label="G Filler">G Filler</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Licht+C"
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data-ga-label="C Licht">C Licht</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Chan+SY"
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data-ga-label="S Y Chan">S Y Chan</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Skalova+S"
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data-ga-label="S Skalova">S Skalova</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Seeman+T"
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data-ga-label="T Seeman">T Seeman</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Nuutinen+M"
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data-ga-label="M Nuutinen">M Nuutinen</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Antignac+C"
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data-ga-label="C Antignac">C Antignac</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Briese+S"
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data-ga-label="S Briese">S Briese</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Querfeld+U"
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data-ga-label="U Querfeld">U Querfeld</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Franke+I"
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data-ga-label="I Franke">I Franke</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Bachmann+H"
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data-ga-label="H Bachmann">H Bachmann</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Kirschstein+M"
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data-ga-label="M Kirschstein">M Kirschstein</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Weber+LT"
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data-ga-label="L T Weber">L T Weber</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Hoppe+B"
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data-ga-label="B Hoppe">B Hoppe</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Beck+BB"
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data-ga-label="B B Beck">B B Beck</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Habbig+S"
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data-ga-label="S Habbig">S Habbig</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Mayer+B"
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data-ga-label="B Mayer">B Mayer</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=B%C3%BCscher+R"
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data-ga-label="R Büscher">R Büscher</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Mallmann+R"
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data-ga-label="R Mallmann">R Mallmann</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Vester+U"
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data-ga-label="U Vester">U Vester</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Latta+K"
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data-ga-label="K Latta">K Latta</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Pohl+M"
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data-ga-label="M Pohl">M Pohl</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=H%C3%A4ffner+K"
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data-ga-label="K Häffner">K Häffner</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Patzer+L"
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data-ga-label="L Patzer">L Patzer</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Henne+T"
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data-ga-label="T Henne">T Henne</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Pape+L"
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data-ga-label="L Pape">L Pape</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Schiffer+M"
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data-ga-label="M Schiffer">M Schiffer</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Schwarz+A"
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data-ga-label="A Schwarz">A Schwarz</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Kiepe+D"
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data-ga-label="D Kiepe">D Kiepe</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Sch%C3%A4fer+F"
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data-ga-label="F Schäfer">F Schäfer</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=T%C3%B6nshoff+B"
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data-ga-label="B Tönshoff">B Tönshoff</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=R%C3%B6nnefarth+G"
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data-ga-label="G Rönnefarth">G Rönnefarth</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Strehlau+JS"
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data-ga-label="J S Strehlau">J S Strehlau</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Schumacher+M"
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data-ga-label="M Schumacher">M Schumacher</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Beetz+R"
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data-ga-label="R Beetz">R Beetz</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Klaus+G"
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data-ga-label="G Klaus">G Klaus</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Fehrenbach+H"
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data-ga-label="H Fehrenbach">H Fehrenbach</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Kuwertz-Broeking+E"
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data-ga-label="E Kuwertz-Broeking">E Kuwertz-Broeking</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Konrad+M"
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data-ga-label="M Konrad">M Konrad</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Schulze-Everding+A"
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data-ga-label="A Schulze-Everding">A Schulze-Everding</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Hoefele+J"
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data-ga-label="J Hoefele">J Hoefele</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Muscheistes+J"
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data-ga-label="J Muscheistes">J Muscheistes</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Wigger+M"
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data-ga-label="M Wigger">M Wigger</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Bald+M"
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data-ga-label="M Bald">M Bald</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Leichter+H"
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data-ga-label="H Leichter">H Leichter</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Reusz+G"
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data-ga-label="G Reusz">G Reusz</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Louis+D"
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data-ga-label="D Louis">D Louis</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Senguttuvan+P"
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data-ga-label="P Senguttuvan">P Senguttuvan</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Aravind+R"
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data-ga-label="R Aravind">R Aravind</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Padmaraj+R"
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data-ga-label="R Padmaraj">R Padmaraj</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Manorajan+M"
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data-ga-label="M Manorajan">M Manorajan</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Nampoothiri+S"
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data-ga-label="S Nampoothiri">S Nampoothiri</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Sharma+JS"
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data-ga-label="J S Sharma">J S Sharma</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Bagga+A"
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data-ga-label="A Bagga">A Bagga</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Choudry+S"
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data-ga-label="S Choudry">S Choudry</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Schreiber+R"
ref="linksrc=author_name_link"
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data-ga-label="R Schreiber">R Schreiber</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Frishberg+Y"
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data-ga-label="Y Frishberg">Y Frishberg</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Cleper+R"
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data-ga-label="R Cleper">R Cleper</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Chenin+G"
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data-ga-label="G Chenin">G Chenin</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Gianviti+A"
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data-ga-label="A Gianviti">A Gianviti</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Al-Kandari+F"
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data-ga-label="F Al-Kandari">F Al-Kandari</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Tasic+V"
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data-ga-label="V Tasic">V Tasic</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Ch+GS"
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data-ga-label="G S Ch">G S Ch</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Keng+WT"
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data-ga-label="W T Keng">W T Keng</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Bokenkamp+A"
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data-ga-label="A Bokenkamp">A Bokenkamp</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Hashmi+S"
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data-ga-label="S Hashmi">S Hashmi</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Moorani+KN"
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</div>
<div class="affiliations">
<h3 class="title">
Affiliations
</h3>
<ul class="item-list">
<li data-affiliation-id="full-view-affiliation-1"
id="full-view-affiliation-1"
><sup class="key">1</sup> Division of Nephrology, Department of Medicine, Boston Children&#x27;s Hospital, Harvard Medical School, Boston, Massachusetts;</li>
<li data-affiliation-id="full-view-affiliation-2"
id="full-view-affiliation-2"
><sup class="key">2</sup> Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, Michigan;</li>
<li data-affiliation-id="full-view-affiliation-3"
id="full-view-affiliation-3"
><sup class="key">3</sup> Department of Genetics and Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, Connecticut;</li>
<li data-affiliation-id="full-view-affiliation-4"
id="full-view-affiliation-4"
><sup class="key">4</sup> Institute of Child Health, University College London, London, United Kingdom;</li>
<li data-affiliation-id="full-view-affiliation-5"
id="full-view-affiliation-5"
><sup class="key">5</sup> Pediatric Nephrology Unit, King Abdulaziz University Hospital, Jeddah, Kingdom of Saudi Arabia;</li>
<li data-affiliation-id="full-view-affiliation-6"
id="full-view-affiliation-6"
><sup class="key">6</sup> Department of Human Genetics, Otto von Guericke University, Magdeburg, Germany;</li>
<li data-affiliation-id="full-view-affiliation-7"
id="full-view-affiliation-7"
><sup class="key">7</sup> Department of Pediatrics, University Hospital Hamburg-Eppendorf, Hamburg, Germany;</li>
<li data-affiliation-id="full-view-affiliation-8"
id="full-view-affiliation-8"
><sup class="key">8</sup> Department of Pediatric Nephrology, Medical Faculty of the Charité, Berlin, Germany;</li>
<li data-affiliation-id="full-view-affiliation-9"
id="full-view-affiliation-9"
><sup class="key">9</sup> The Pediatric Nephrology Unit, Alexandria University, Alexandria, Egypt;</li>
<li data-affiliation-id="full-view-affiliation-10"
id="full-view-affiliation-10"
><sup class="key">10</sup> Department of Pediatrics, Center of Pediatric Nephrology &amp; Transplantation, Kasr Al Ainy School of Medicine, Cairo University, Cairo, Egypt; Egyptian Group for Orphan Renal Diseases, Cairo, Egypt; and.</li>
<li data-affiliation-id="full-view-affiliation-11"
id="full-view-affiliation-11"
><sup class="key">11</sup> Division of Nephrology, Department of Medicine, Boston Children&#x27;s Hospital, Harvard Medical School, Boston, Massachusetts; Howard Hughes Medical Institute, Chevy Chase, Maryland friedhelm.hildebrandt@childrens.harvard.edu.</li>
</ul>
</div>
</div>
</div>
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PMID:
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<strong class="current-id" title="PubMed ID">25349199</strong>
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target="_blank"
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ref="linksrc=article_id_link&amp;article_id=10.1681/ASN.2014050489&amp;id_type=DOI"
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10.1681/ASN.2014050489
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<div class="short-view" id="short-view-heading">
<h1 class="heading-title">
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome
</h1>
<div class="short-citation">
<span class="authors-list">
<span class="authors-list-item "><span class="full-name">Carolin E Sadowski</span><span class="citation-separator">&nbsp;et al.</span></span>
</span>
<span class="citation-journal">
J Am Soc Nephrol<span class="citation-separator">.</span>
</span>
<span class="date">
<span class="citation-year">2015 Jun</span><span class="citation-separator">.</span>
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Epub 2014 Oct 27.
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data-ga-label="Carolin E Sadowski">Carolin E Sadowski</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Nephrology, Department of Medicine, Boston Children&#x27;s Hospital, Harvard Medical School, Boston, Massachusetts;" href="#short-view-affiliation-1" ref="linksrc=author_aff">
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Affiliations
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<li data-affiliation-id="short-view-affiliation-1"
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><sup class="key">1</sup> Division of Nephrology, Department of Medicine, Boston Children&#x27;s Hospital, Harvard Medical School, Boston, Massachusetts;</li>
<li data-affiliation-id="short-view-affiliation-2"
id="short-view-affiliation-2"
><sup class="key">2</sup> Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, Michigan;</li>
<li data-affiliation-id="short-view-affiliation-3"
id="short-view-affiliation-3"
><sup class="key">3</sup> Department of Genetics and Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, Connecticut;</li>
<li data-affiliation-id="short-view-affiliation-4"
id="short-view-affiliation-4"
><sup class="key">4</sup> Institute of Child Health, University College London, London, United Kingdom;</li>
<li data-affiliation-id="short-view-affiliation-5"
id="short-view-affiliation-5"
><sup class="key">5</sup> Pediatric Nephrology Unit, King Abdulaziz University Hospital, Jeddah, Kingdom of Saudi Arabia;</li>
<li data-affiliation-id="short-view-affiliation-6"
id="short-view-affiliation-6"
><sup class="key">6</sup> Department of Human Genetics, Otto von Guericke University, Magdeburg, Germany;</li>
<li data-affiliation-id="short-view-affiliation-7"
id="short-view-affiliation-7"
><sup class="key">7</sup> Department of Pediatrics, University Hospital Hamburg-Eppendorf, Hamburg, Germany;</li>
<li data-affiliation-id="short-view-affiliation-8"
id="short-view-affiliation-8"
><sup class="key">8</sup> Department of Pediatric Nephrology, Medical Faculty of the Charité, Berlin, Germany;</li>
<li data-affiliation-id="short-view-affiliation-9"
id="short-view-affiliation-9"
><sup class="key">9</sup> The Pediatric Nephrology Unit, Alexandria University, Alexandria, Egypt;</li>
<li data-affiliation-id="short-view-affiliation-10"
id="short-view-affiliation-10"
><sup class="key">10</sup> Department of Pediatrics, Center of Pediatric Nephrology &amp; Transplantation, Kasr Al Ainy School of Medicine, Cairo University, Cairo, Egypt; Egyptian Group for Orphan Renal Diseases, Cairo, Egypt; and.</li>
<li data-affiliation-id="short-view-affiliation-11"
id="short-view-affiliation-11"
><sup class="key">11</sup> Division of Nephrology, Department of Medicine, Boston Children&#x27;s Hospital, Harvard Medical School, Boston, Massachusetts; Howard Hughes Medical Institute, Chevy Chase, Maryland friedhelm.hildebrandt@childrens.harvard.edu.</li>
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<strong class="current-id" title="PubMed ID">25349199</strong>
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Abstract
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<p>
Steroid-resistant nephrotic syndrome (SRNS) is the second most frequent cause of ESRD in the first two decades of life. Effective treatment is lacking. First insights into disease mechanisms came from identification of single-gene causes of SRNS. However, the frequency of single-gene causation and its age distribution in large cohorts are unknown. We performed exon sequencing of NPHS2 and WT1 for 1783 unrelated, international families with SRNS. We then examined all patients by microfluidic multiplex PCR and next-generation sequencing for all 27 genes known to cause SRNS if mutated. We detected a single-gene cause in 29.5% (526 of 1783) of families with SRNS that manifested before 25 years of age. The fraction of families in whom a single-gene cause was identified inversely correlated with age of onset. Within clinically relevant age groups, the fraction of families with detection of the single-gene cause was as follows: onset in the first 3 months of life (69.4%), between 4 and 12 months old (49.7%), between 1 and 6 years old (25.3%), between 7 and 12 years old (17.8%), and between 13 and 18 years old (10.8%). For PLCE1, specific mutations correlated with age of onset. Notably, 1% of individuals carried mutations in genes that function within the coenzyme Q10 biosynthesis pathway, suggesting that SRNS may be treatable in these individuals. Our study results should facilitate molecular genetic diagnostics of SRNS, etiologic classification for therapeutic studies, generation of genotype-phenotype correlations, and the identification of individuals in whom a targeted treatment for SRNS may be available.
</p>
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<p>
<strong class="sub-title">
Keywords:
</strong>
FSGS; SRNS; genetic disease; kidney failure; nephrosis; steroid-resistant nephrotic syndrome.
</p>
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<p class="copyright" id="copyright">
Copyright © 2015 by the American Society of Nephrology.
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data-image-width="805"
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data-image-alt="Figure 1."
data-pmc-id="PMC4446877"
data-figure-id="fig1">
<img class="figure-thumb" itemprop="thumbnail"
id="article-image-0"
src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37b3/4446877/a1abdf7ee756/ASN.2014050489f1.gif"
alt="Figure 1." />
</a>
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<div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true">
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<strong class="figure-label">
<p> Figure 1. </p>
</strong>
<div class="figure-caption-contents"><p> Geographic distribution of the study… </p></div>
</div>
</div>
<div class="figure-caption-medium figure-caption-text" aria-hidden="true">
<strong class="figure-label">
<p> Figure 1. </p>
</strong>
<div class="figure-caption-contents"><p> Geographic distribution of the study cohort of 1783 families with SRNS. The number… </p></div>
</div>
<figcaption id="figure-caption-0" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
<strong class="figure-label">
Figure 1.
</strong>
<div class="figure-caption-contents">Geographic distribution of the study cohort of 1783 families with SRNS. The number of affected families in the respective countries or cities is represented by the surface area (red) of a circle. Data from countries not represented on the map are shown in the blue box. Insert shows higher resolution of the New York Metropolitan area.</div>
</figcaption>
</figure>
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itemprop="associatedMedia"
data-slide-index="1"
data-label-slug="figure-2">
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itemprop="contentUrl"
aria-describedby="figure-caption-1"
role="button"
data-image-width="802"
data-image-height="1152"
data-image-alt="Figure 2."
data-pmc-id="PMC4446877"
data-figure-id="fig2">
<img class="figure-thumb" itemprop="thumbnail"
id="article-image-1"
src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37b3/4446877/bfd46893ff07/ASN.2014050489f2.gif"
alt="Figure 2." />
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<div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true">
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<strong class="figure-label">
<p> Figure 2. </p>
</strong>
<div class="figure-caption-contents"><p> Age of onset distribution (in… </p></div>
</div>
</div>
<div class="figure-caption-medium figure-caption-text" aria-hidden="true">
<strong class="figure-label">
<p> Figure 2. </p>
</strong>
<div class="figure-caption-contents"><p> Age of onset distribution (in years) for 1589 of 1783 examined SRNS families.… </p></div>
</div>
<figcaption id="figure-caption-1" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
<strong class="figure-label">
Figure 2.
</strong>
<div class="figure-caption-contents">Age of onset distribution (in years) for 1589 of 1783 examined SRNS families. The displayed 1589 families represent the number of families with available data for age of onset of proteinuria <18 years. (A) Red curve and histograms represent the number of families in each age of onset (years) of SRNS for 1093 families without molecular genetic diagnosis. Blue curve and histograms show number of 496 families with causative mutations identified for each age of onset. (B) Graph indicates percentage of solved families per year of age of onset (from A). Black dotted line represents a binomial fit of age-related percent of families with causative mutation. (Data are not displayed for 72 individuals who were older than 17 years at onset of SRNS and for 122 families with no available information for age of onset. In families with >1 affected family member, the mean age of onset from all affected individuals was used.)</div>
</figcaption>
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aria-describedby="figure-caption-2"
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data-image-width="795"
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data-pmc-id="PMC4446877"
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<img class="figure-thumb" itemprop="thumbnail"
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<p> Figure 3. </p>
</strong>
<div class="figure-caption-contents"><p> Detection of the causative mutation… </p></div>
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</div>
<div class="figure-caption-medium figure-caption-text" aria-hidden="true">
<strong class="figure-label">
<p> Figure 3. </p>
</strong>
<div class="figure-caption-contents"><p> Detection of the causative mutation in 502 families in an international cohort of… </p></div>
</div>
<figcaption id="figure-caption-2" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
<strong class="figure-label">
Figure 3.
</strong>
<div class="figure-caption-contents">Detection of the causative mutation in 502 families in an international cohort of 1617 families with SRNS in 21 SRNS-causing genes in relation to age of onset of proteinuria in clinically relevant age groups. The displayed 502 families represent the number of families with detected causative mutation and available data for age of onset of proteinuria <26 years. (A) Percentage of families with causative mutation detected per gene per age group. Histograms indicate fraction (in percentage) of families with causative gene detected in <i>n</i> families per families examined (on top of histograms) per age group. (B) Percentages shown in A are represented by separate bars to highlight distribution across age groups as further delineated in C. Note that mutations in <i>NPHS1</i> or <i>LAMB2</i> cause early-onset SRNS, whereas mutations in <i>INF2</i> or <i>TRPC6</i> cause late-onset SRNS. (C) Percentages of families with causative mutation detected (from B) are interconnected by lines between age groups and shown in different colors for each causative gene (lower panel for recessive genes, upper panel for dominant genes). <i>NPHS1</i> mutations (red) have an early age of onset and are rarely found in patients older than 6 years. The dominant genes <i>INF2</i> and <i>TRPC6</i> manifest in early adulthood and <i>WT1</i> (black) shows a biphasic distribution (upper panel). (For families with detected disease-causing mutation, data are not shown for 11 families where no age of onset was available, and for 10 families with an age of onset older than 25 years. For families with no detection of the disease-causing mutation, data are not displayed for 111 families for whom no data for age of onset were available and for 34 families with age of onset older than 25 years. In families with &gt;1 affected family member the mean age of onset from all affected individuals was calculated.).</div>
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itemprop="contentUrl"
aria-describedby="figure-caption-3"
role="button"
data-image-width="772"
data-image-height="1328"
data-image-alt="Figure 4."
data-pmc-id="PMC4446877"
data-figure-id="fig4">
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<p> Figure 4. </p>
</strong>
<div class="figure-caption-contents"><p> Distribution for age of onset… </p></div>
</div>
</div>
<div class="figure-caption-medium figure-caption-text" aria-hidden="true">
<strong class="figure-label">
<p> Figure 4. </p>
</strong>
<div class="figure-caption-contents"><p> Distribution for age of onset of NS in 35 individuals with homozygous mutations… </p></div>
</div>
<figcaption id="figure-caption-3" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
<strong class="figure-label">
Figure 4.
</strong>
<div class="figure-caption-contents">Distribution for age of onset of NS in 35 individuals with homozygous mutations in <i>PLCE1</i>. (A) Homozygous <i>PLCE1</i> mutations are represented by 30 different alleles. The x-axis indicates the mutations sorted by median age of onset. The y-axis indicates the age of onset of SRNS. Symbols are colored red, green, or blue if the allele is truncating, splice, or missense, respectively. (B) Age of onset of SRNS with causative mutations detected in <i>PLCE1</i>, grouped by type of mutation. The x-axis indicates the type of mutations (truncating mutations before amino acid (aa) residue 1000 (N-terminal), truncating mutations after aa residue 1000 (C-terminal), splice and missense mutations. The y-axis indicates the age of onset of proteinuria. Symbols are blue for missense, green for splice, and red for stop and frameshift. Note that the age of onset was significantly different between splice site mutations versus C-terminal truncating mutations (<i>P</i>&lt;0.05), or splice site versus missense mutations (<i>P</i>&lt;0.05). <i>P</i> values are from two-tailed <i>t</i> test. Arrows represent position of outlier values.</div>
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<div id="publication-types" class="publication-types keywords-section">
<h2 class="title">
Publication types
</h2>
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Research Support, N.I.H., Extramural
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<div id="mesh-terms" class="mesh-terms keywords-section">
<h2 class="title">
MeSH terms
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Substances
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Supplementary concepts
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