<?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>S0872-01692022000100015</article-id>
<article-id pub-id-type="doi">10.32932/pjnh.2022.03.177</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[The urine as a diagnostic key for a homozygous EGFR mutation]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Santos]]></surname>
<given-names><![CDATA[Mafalda Casinhas]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Almendra]]></surname>
<given-names><![CDATA[Margarida]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Bota]]></surname>
<given-names><![CDATA[Sofia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ramos]]></surname>
<given-names><![CDATA[Helena]]></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-group>
<aff id="Af1">
<institution><![CDATA[,Centro Hospitalar Universitário de Lisboa Central Maternidade Dr. Alfredo da Costa Children and Adolescents Department]]></institution>
<addr-line><![CDATA[Lisbon ]]></addr-line>
<country>Portugal</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Hospital Vila Franca de Xira Paediatrics Department ]]></institution>
<addr-line><![CDATA[Lisboa ]]></addr-line>
<country>Portugal</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Centro Hospitalar Universitário Lisboa Central Hospital Dona Estefânia Children and Adolescents Department]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
</aff>
<pub-date pub-type="pub">
<day>30</day>
<month>03</month>
<year>2022</year>
</pub-date>
<pub-date pub-type="epub">
<day>30</day>
<month>03</month>
<year>2022</year>
</pub-date>
<volume>36</volume>
<numero>1</numero>
<fpage>15</fpage>
<lpage>19</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_arttext&amp;pid=S0872-01692022000100015&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_abstract&amp;pid=S0872-01692022000100015&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_pdf&amp;pid=S0872-01692022000100015&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT Primary inherited epidermal growth factor receptor defects have recently been described in severe inflammatory skin disease and diarrhoea case reports. We describe two case reports of female preterm newborns of Roma consanguineous parents who presented both with alopecia and erythroderma/ichthyosis, in addition to nephromegaly at birth in case 1. Later, they both developed hypomagnesaemia and other severe hydroelectrolyte disturbances, recurrent life-threatening sepsis and failure to thrive. Exome sequencing identified a homozygous mutation in the epidermal growth factor receptor, rarely described. Despite optimization of medical supportive care, the prognosis was poor and both patients died before the first year of life. There are few similar cases of epidermal growth factor receptor homozygous mutation reported so far. Our manuscript describes the genetics, clinical presentation, and complex treatment of our two patients, aiming to contribute to new advances in the management of this condition.]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[Epidermal growth factor]]></kwd>
<kwd lng="en"><![CDATA[epidermal growth factor mutation]]></kwd>
<kwd lng="en"><![CDATA[erythroderma]]></kwd>
<kwd lng="en"><![CDATA[hypomagnesaemia]]></kwd>
<kwd lng="en"><![CDATA[ichthyosis]]></kwd>
<kwd lng="en"><![CDATA[nephromegaly]]></kwd>
<kwd lng="en"><![CDATA[primary Immunodeficiency]]></kwd>
</kwd-group>
</article-meta>
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