<?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>2976-0526</journal-id>
<journal-title><![CDATA[Portuguese Kidney Journal (PKJ)]]></journal-title>
<abbrev-journal-title><![CDATA[PKJ]]></abbrev-journal-title>
<issn>2976-0526</issn>
<publisher>
<publisher-name><![CDATA[Sociedade Portuguesa de Nefrologia]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S2976-05262024000300068</article-id>
<article-id pub-id-type="doi">10.71749/pkj.32</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[Cystic Kidney Disease: An Early Manifestation of a Rare Syndrome]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Leuzinger&#8209;Dias]]></surname>
<given-names><![CDATA[Catarina]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ramos]]></surname>
<given-names><![CDATA[Joana P.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Machado]]></surname>
<given-names><![CDATA[Marta]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Cordinhã]]></surname>
<given-names><![CDATA[Carolina]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Carmo]]></surname>
<given-names><![CDATA[Carmen do]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Gomes]]></surname>
<given-names><![CDATA[Clara]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Unidade Local de Saúde de Coimbra, EPE Hospital Pediátrico de Coimbra Pediatric Nephrology Unit]]></institution>
<addr-line><![CDATA[Coimbra ]]></addr-line>
<country>Portugal</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Unidade Local de Saúde Médio Tejo Pediatrics Department ]]></institution>
<addr-line><![CDATA[Torres Novas ]]></addr-line>
<country>Portugal</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>12</month>
<year>2024</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>12</month>
<year>2024</year>
</pub-date>
<volume>38</volume>
<numero>3-4</numero>
<fpage>68</fpage>
<lpage>71</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_arttext&amp;pid=S2976-05262024000300068&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_abstract&amp;pid=S2976-05262024000300068&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_pdf&amp;pid=S2976-05262024000300068&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract Pediatric cystic kidney diseases include a diversity of hereditary or non&#8209;hereditary conditions, whose phenotypic presentation can vary from asymptomatic to end&#8209;stage renal disease. We report a case of a male with a prenatal diagnosis of pyelectasis. Throughout the first two years of life, serial renal ultrasound showed regression of pyelectasis, but increased renal echogenicity, first identified at three months&#8209;old. The family history of renal diseases was negative. Voiding cystourethrography showed no signs of vesicoureteral reflux and the MAG3 renogram revealed equally functioning kidneys. At 29 months&#8209;old, elevated transaminases and two cortical cysts were detected, raising the suspicion of a cystic kidney disease. A hepatic biopsy showed no signs of fibrosis. He was tested for autosomal recessive polycystic kidney disease (ARPKD), which was negative. Renal ultrasound showed an increase in the number of cysts bilaterally, with diffuse hyperechogenicity and reduction of parenchymalsinus differentiation. Throughout the years, he maintained normal blood pressure and elevated transaminases, with rising serum creatinine from the age of 13 years. A NGS panel for cystic diseases detected 17q12 deletion syndrome, which causes renal cysts and other urinary tract malfunctions, and may also present with mature&#8209;onset diabetes of the young type 5 (MODY5) diabetes, hyperparathyroidism, altered hepatic function and behavioral and psychiatric conditions. On the last appointment (15 years&#8209;old), ultrasound showed bilateral cysts (10 mm), worsened renal function (glomerular filtration rate (GFR) of 71 mL/min/1.73 m2), hypomagnesemia under treatment, and normal transaminases and glycemia. In this case, an atypical presentation of cystic kidney disease led to an extended investigation resourcing to other genetic panels, allowing the etiological diagnosis and enabling the early identification and monitorization of possible extra&#8209;renal comorbidities commonly associated with this syndrome.]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[Child]]></kwd>
<kwd lng="en"><![CDATA[Chromosomes, Human, Pair 17]]></kwd>
<kwd lng="en"><![CDATA[Kidney Diseases, Cystic]]></kwd>
<kwd lng="en"><![CDATA[Pyelectasis]]></kwd>
</kwd-group>
</article-meta>
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