<?xml version="1.0" encoding="ISO-8859-1"?><article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance">
<front>
<journal-meta>
<journal-id>0872-0169</journal-id>
<journal-title><![CDATA[Portuguese Journal of Nephrology & Hypertension]]></journal-title>
<abbrev-journal-title><![CDATA[Port J Nephrol Hypert]]></abbrev-journal-title>
<issn>0872-0169</issn>
<publisher>
<publisher-name><![CDATA[Sociedade Portuguesa de Nefrologia]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0872-01692021000300144</article-id>
<article-id pub-id-type="doi">10.32932/pjnh.2021.10.139</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[The Kidney Genetics Clinic: delivering precision medicine for kidney patients]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Calado]]></surname>
<given-names><![CDATA[Joaquim]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Barata]]></surname>
<given-names><![CDATA[Rui]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Lucas]]></surname>
<given-names><![CDATA[Rita]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Francisco]]></surname>
<given-names><![CDATA[Telma]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Gonçalves]]></surname>
<given-names><![CDATA[Rui]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ribeiro]]></surname>
<given-names><![CDATA[Nuno Carrilho]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Nolasco]]></surname>
<given-names><![CDATA[Fernando]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Centro Hospitalar e Universitário de Lisboa Central Nephrology Department ]]></institution>
<addr-line><![CDATA[Lisbon ]]></addr-line>
<country>Portugal</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Centro Hospitalar e Universitário de Lisboa Central Pharmaceutical Department ]]></institution>
<addr-line><![CDATA[Lisbon ]]></addr-line>
<country>Portugal</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Centro Hospitalar e Universitário de Lisboa Central Pediatrics Department ]]></institution>
<addr-line><![CDATA[Lisbon ]]></addr-line>
<country>Portugal</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Centro Hospitalar e Universitário de Lisboa Central Genetics Department ]]></institution>
<addr-line><![CDATA[Lisbon ]]></addr-line>
<country>Portugal</country>
</aff>
<aff id="Af5">
<institution><![CDATA[,Centro Hospitalar e Universitário de Lisboa Central Radiology Department ]]></institution>
<addr-line><![CDATA[Lisbon ]]></addr-line>
<country>Portugal</country>
</aff>
<aff id="Af6">
<institution><![CDATA[,Universidade Nova de Lisboa Nova Medical School/Faculdade de Ciências Médicas Centre for Toxicogenomics and Human Health (ToxOmics)]]></institution>
<addr-line><![CDATA[Lisbon ]]></addr-line>
<country>Portugal</country>
</aff>
<aff id="Af7">
<institution><![CDATA[,Universidade Nova de Lisboa Nova Medical School/Faculdade de Ciências Médicas Chronic Diseases Research Centre]]></institution>
<addr-line><![CDATA[Lisbon ]]></addr-line>
<country>Portugal</country>
</aff>
<pub-date pub-type="pub">
<day>30</day>
<month>09</month>
<year>2021</year>
</pub-date>
<pub-date pub-type="epub">
<day>30</day>
<month>09</month>
<year>2021</year>
</pub-date>
<volume>35</volume>
<numero>3</numero>
<fpage>144</fpage>
<lpage>152</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_arttext&amp;pid=S0872-01692021000300144&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_abstract&amp;pid=S0872-01692021000300144&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_pdf&amp;pid=S0872-01692021000300144&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT Molecular genetic testing in human traits has traditionally relied on affiliated academic facilities, been focused on specific phenotypes and supported by research funding. We report the experience of the Kidney Genetics Clinic (&#8220;consulta de Doenças Renais Hereditárias&#8221;) for the past 5 years, a period during which we have outsourced genetic testing. We evaluated the impact of molecular testing in patients&#8217; care, but we also assessed disease&#8209;specific imaging procedures and medicines provided. During the study period, 293 individuals were evaluated. Autosomal Dominant Polycystic Kidney Disease was the most frequent diagnosis (61.8%). In 125 patients, a genetic test was available, and for 76 of these (60.8%) a pathogenic/likely pathogenic variant was identified. Depending on the phenotype, the mutation detection rate ranged from 100% (Tuberous Sclerosis Complex) to 15.4% (Autosomal Dominant Tubulointerstitial Kidney Disease). The impact of genetic testing on patients&#8217; diagnosis and treatments is discussed. Total kidney volume was calculated in 6 patients with Autosomal Dominant Polycystic Kidney Disease and the combined volume for selected angiomyolipoma monitored in 3 individuals with the Tuberous Sclerosis Complex. Currently, 4 patients are being treated with Everolimus/Votubia&#8482;, 3 with Eculizumab/Soliris&#8482; and 2 with Tolvaptan/Jinarc&#8482;. Our results demonstrate the feasibility of genetic molecular testing in a clinical setting while relying on outsourced sites for gene testing. We emphasize that it was only because the Kidney Genetics Clinic was given the opportunity to look after several patients affected by the same specific orphan or rare diseases (cohort enrichment) that we were able to improve diagnostic skills and deliver personalized medicines.]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[genetics]]></kwd>
<kwd lng="en"><![CDATA[inherited kidney disorders]]></kwd>
<kwd lng="en"><![CDATA[molecular testing]]></kwd>
<kwd lng="en"><![CDATA[rare kidney diseases]]></kwd>
<kwd lng="en"><![CDATA[precision medicine]]></kwd>
</kwd-group>
</article-meta>
</front><back>
<ref-list>
<ref id="B1">
<label>1</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Brum]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Ribeiro]]></surname>
<given-names><![CDATA[NC]]></given-names>
</name>
<name>
<surname><![CDATA[Santos]]></surname>
<given-names><![CDATA[AR]]></given-names>
</name>
<name>
<surname><![CDATA[Nolasco]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Calado]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Monitorização do volume renal por tomografia computorizada na Doença Poliquística Renal Autossómica Dominante]]></article-title>
<source><![CDATA[Port J Nephrol Hypert]]></source>
<year>2008</year>
<volume>22</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>65&#8209;131</page-range></nlm-citation>
</ref>
<ref id="B2">
<label>2</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Serra]]></surname>
<given-names><![CDATA[AL]]></given-names>
</name>
<name>
<surname><![CDATA[Poster]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Kistler]]></surname>
<given-names><![CDATA[AD]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Sirolimus and kidney growth in autosomal dominant polycystic kidney disease]]></article-title>
<source><![CDATA[N Engl J Med]]></source>
<year>2010</year>
<volume>363</volume>
<numero>9</numero>
<issue>9</issue>
<page-range>820&#8209;829</page-range></nlm-citation>
</ref>
<ref id="B3">
<label>3</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Saunier]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Calado]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Benessy]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis]]></article-title>
<source><![CDATA[Am J Hum Genet]]></source>
<year>2000</year>
<volume>66</volume>
<numero>3</numero>
<issue>3</issue>
<page-range>778&#8209;789</page-range></nlm-citation>
</ref>
<ref id="B4">
<label>4</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Santer]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Calado]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Familial renal glucosuria and SGLT2: from a Mendelian trait to a therapeutic target]]></article-title>
<source><![CDATA[Clin J Am Soc Nephrol]]></source>
<year>2010</year>
<volume>5</volume>
<page-range>133&#8209;141</page-range></nlm-citation>
</ref>
<ref id="B5">
<label>5</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Alves]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Fonseca]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[de Almeida]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Differential diagnosis of Autosomal Dominant Polycystic Kidney Disease]]></article-title>
<person-group person-group-type="editor">
<name>
<surname><![CDATA[Li]]></surname>
<given-names><![CDATA[X]]></given-names>
</name>
</person-group>
<source><![CDATA[Polycystic Kidney Disease]]></source>
<year>2015</year>
<publisher-loc><![CDATA[Brisbane ]]></publisher-loc>
<publisher-name><![CDATA[Codon Publications]]></publisher-name>
</nlm-citation>
</ref>
<ref id="B6">
<label>6</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Nabais Sá]]></surname>
<given-names><![CDATA[MJ]]></given-names>
</name>
<name>
<surname><![CDATA[Sampaio]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Oliveira]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Collagen type IV&#8209;related nephropathies in Portugal: pathogenic COL4A5 mutations and clinical characterization of 22 families]]></article-title>
<source><![CDATA[Clin Genet]]></source>
<year>2015</year>
<volume>88</volume>
<numero>5</numero>
<issue>5</issue>
<page-range>462&#8209;467</page-range></nlm-citation>
</ref>
<ref id="B7">
<label>7</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Eckardt]]></surname>
<given-names><![CDATA[KU]]></given-names>
</name>
<name>
<surname><![CDATA[Alper]]></surname>
<given-names><![CDATA[SL]]></given-names>
</name>
<name>
<surname><![CDATA[Antignac]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Kidney Disease: Improving Global Outcomes. Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management - A KDIGO consensus report]]></article-title>
<source><![CDATA[Kidney Int]]></source>
<year>2015</year>
<volume>88</volume>
<numero>4</numero>
<issue>4</issue>
<page-range>676&#8209;683</page-range></nlm-citation>
</ref>
<ref id="B8">
<label>8</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Azevedo]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Faria]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[Teixeira]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Portuguese consensus document statement in diagnostic and management of atypical hemolytic uremic syndrome]]></article-title>
<source><![CDATA[Port J Nephrol Hypert]]></source>
<year>2018</year>
<volume>3</volume>
<page-range>1&#8209;22</page-range></nlm-citation>
</ref>
<ref id="B9">
<label>9</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Crino]]></surname>
<given-names><![CDATA[PB]]></given-names>
</name>
<name>
<surname><![CDATA[Nathanson]]></surname>
<given-names><![CDATA[KL]]></given-names>
</name>
<name>
<surname><![CDATA[Henske]]></surname>
<given-names><![CDATA[EP]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[The tuberous sclerosis complex]]></article-title>
<source><![CDATA[N Engl J Med]]></source>
<year>2006</year>
<volume>355</volume>
<numero>13</numero>
<issue>13</issue>
<page-range>1345&#8209;1356</page-range></nlm-citation>
</ref>
<ref id="B10">
<label>10</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Blanchard]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Bockenhauer]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Bolignano]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference]]></article-title>
<source><![CDATA[Kidney Int]]></source>
<year>2017</year>
<volume>91</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>24&#8209;33</page-range></nlm-citation>
</ref>
<ref id="B11">
<label>11</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Konrad]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Nijenhuis]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Ariceta]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Diagnosis and management of Bartter syndrome: executive summary of the consensus and recommendations from the European Rare Kidney Disease Reference Network Working Group for Tubular Disorders]]></article-title>
<source><![CDATA[Kidney Int]]></source>
<year>2021</year>
<volume>99</volume>
<numero>2</numero>
<issue>2</issue>
<page-range>324&#8209;335</page-range></nlm-citation>
</ref>
<ref id="B12">
<label>12</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Richards]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Aziz]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Bale]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology]]></article-title>
<source><![CDATA[Genet Med]]></source>
<year>2015</year>
<volume>17</volume>
<numero>5</numero>
<issue>5</issue>
<page-range>405&#8209;424</page-range></nlm-citation>
</ref>
<ref id="B13">
<label>13</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Lundquist]]></surname>
<given-names><![CDATA[LP]]></given-names>
</name>
<name>
<surname><![CDATA[Pelletier]]></surname>
<given-names><![CDATA[RC]]></given-names>
</name>
<name>
<surname><![CDATA[Leonard]]></surname>
<given-names><![CDATA[CE]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[From theory to reality: establishing a successful kidney genetics clinic in the outpatient setting]]></article-title>
<source><![CDATA[Kidney360]]></source>
<year>2020</year>
<page-range>1099&#8209;1106</page-range></nlm-citation>
</ref>
<ref id="B14">
<label>14</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Cornec&#8209;Le Gall]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Torres]]></surname>
<given-names><![CDATA[VE]]></given-names>
</name>
<name>
<surname><![CDATA[Harris]]></surname>
<given-names><![CDATA[PC]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Genetic complexity of autosomal dominant polycystic kidney and liver diseases]]></article-title>
<source><![CDATA[J Am Soc Nephrol]]></source>
<year>2018</year>
<volume>29</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>13&#8209;23</page-range></nlm-citation>
</ref>
<ref id="B15">
<label>15</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Kidd]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Vylet&#8217;al]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Schaeffer]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Genetic and clinical predictors of age of ESKD in individuals with autosomal dominant tubulointerstitial kidney disease due to UMOD mutations]]></article-title>
<source><![CDATA[Kidney Int]]></source>
<year>2020</year>
<volume>5</volume>
<numero>9</numero>
<issue>9</issue>
<page-range>1472&#8209;1485</page-range></nlm-citation>
</ref>
<ref id="B16">
<label>16</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Olinger]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Hofmann]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Kidd]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1]]></article-title>
<source><![CDATA[Kidney Int]]></source>
<year>2020</year>
<volume>98</volume>
<numero>3</numero>
<issue>3</issue>
<page-range>717&#8209;731</page-range></nlm-citation>
</ref>
<ref id="B17">
<label>17</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Torres]]></surname>
<given-names><![CDATA[VE]]></given-names>
</name>
<name>
<surname><![CDATA[Chapman]]></surname>
<given-names><![CDATA[AB]]></given-names>
</name>
<name>
<surname><![CDATA[Devuyst]]></surname>
<given-names><![CDATA[O]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Tolvaptan in patients with autosomal dominant polycystic kidney disease]]></article-title>
<source><![CDATA[N Engl J Med]]></source>
<year>2012</year>
<volume>367</volume>
<numero>25</numero>
<issue>25</issue>
<page-range>2407&#8209;2418</page-range></nlm-citation>
</ref>
<ref id="B18">
<label>18</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Torres]]></surname>
<given-names><![CDATA[VE]]></given-names>
</name>
<name>
<surname><![CDATA[Chapman]]></surname>
<given-names><![CDATA[AB]]></given-names>
</name>
<name>
<surname><![CDATA[Devuyst]]></surname>
<given-names><![CDATA[O]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Tolvaptan in later&#8209;stage autosomal dominant polycystic kidney disease]]></article-title>
<source><![CDATA[N Engl J Med]]></source>
<year>2017</year>
<volume>377</volume>
<numero>20</numero>
<issue>20</issue>
<page-range>1930&#8209;1942</page-range></nlm-citation>
</ref>
<ref id="B19">
<label>19</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Gansevoort]]></surname>
<given-names><![CDATA[RT]]></given-names>
</name>
<name>
<surname><![CDATA[Arici]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Benzing]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Recommendations for the use of tolvaptan in autosomal dominant polycystic kidney disease: a position statement on behalf of the ERA&#8209;EDTA Working Groups on Inherited Kidney Disorders and European Renal Best Practice]]></article-title>
<source><![CDATA[Nephrol Dial Transplant]]></source>
<year>2016</year>
<volume>31</volume>
<numero>3</numero>
<issue>3</issue>
<page-range>337&#8209;348</page-range></nlm-citation>
</ref>
<ref id="B20">
<label>20</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Chebib]]></surname>
<given-names><![CDATA[FT]]></given-names>
</name>
<name>
<surname><![CDATA[Perrone]]></surname>
<given-names><![CDATA[RD]]></given-names>
</name>
<name>
<surname><![CDATA[Chapman]]></surname>
<given-names><![CDATA[AB]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[A practical guide for treatment of rapidly progressive DRPAD with tolvaptan]]></article-title>
<source><![CDATA[J Am Soc Nephrol]]></source>
<year>2018</year>
<volume>29</volume>
<numero>10</numero>
<issue>10</issue>
<page-range>2458&#8209;2470</page-range></nlm-citation>
</ref>
<ref id="B21">
<label>21</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Lanktree]]></surname>
<given-names><![CDATA[MB]]></given-names>
</name>
<name>
<surname><![CDATA[Haghighi]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Guiard]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Prevalence estimates of polycystic kidney and liver disease by population sequencing]]></article-title>
<source><![CDATA[J Am Soc Nephrol]]></source>
<year>2018</year>
<volume>29</volume>
<numero>10</numero>
<issue>10</issue>
<page-range>2593&#8209;2600</page-range></nlm-citation>
</ref>
<ref id="B22">
<label>22</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Groopman]]></surname>
<given-names><![CDATA[EE]]></given-names>
</name>
<name>
<surname><![CDATA[Marasa]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Cameron&#8209;Christie]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Diagnostic utility of exome sequencing for kidney disease]]></article-title>
<source><![CDATA[N Engl J Med]]></source>
<year>2019</year>
<volume>3</volume>
</nlm-citation>
</ref>
<ref id="B23">
<label>23</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Kao]]></surname>
<given-names><![CDATA[WH]]></given-names>
</name>
<name>
<surname><![CDATA[Klag]]></surname>
<given-names><![CDATA[MJ]]></given-names>
</name>
<name>
<surname><![CDATA[Meoni]]></surname>
<given-names><![CDATA[LA]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[MYH9 is associated with nondiabetic end&#8209;stage renal disease in African Americans]]></article-title>
<source><![CDATA[Nat Genet]]></source>
<year>2008</year>
<volume>40</volume>
<numero>10</numero>
<issue>10</issue>
<page-range>1185&#8209;1192</page-range></nlm-citation>
</ref>
<ref id="B24">
<label>24</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Garrelfs]]></surname>
<given-names><![CDATA[SF]]></given-names>
</name>
<name>
<surname><![CDATA[Frishberg]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Hulton]]></surname>
<given-names><![CDATA[SA]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Lumasiran, an RNAi therapeutic for primary hyperoxaluria type 1]]></article-title>
<source><![CDATA[N Engl J Med]]></source>
<year>2021</year>
<volume>384</volume>
<numero>13</numero>
<issue>13</issue>
<page-range>1216&#8209;1226</page-range></nlm-citation>
</ref>
</ref-list>
</back>
</article>
