<?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>1812-9528</journal-id>
<journal-title><![CDATA[Memorias del Instituto de Investigaciones en Ciencias de la Salud]]></journal-title>
<abbrev-journal-title><![CDATA[Mem. Inst. Investig. Cienc. Salud]]></abbrev-journal-title>
<issn>1812-9528</issn>
<publisher>
<publisher-name><![CDATA[Instituto de Investigaciones en Ciencias de la Salud]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1812-95282018000200094</article-id>
<article-id pub-id-type="doi">10.18004/mem.iics/1812-9528/2018.016(02)94-099</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Reporte de un caso de Cistinuria: Uso de herramientas de diagnóstico a nivel nacional]]></article-title>
<article-title xml:lang="en"><![CDATA[Report of a case of cystinuria: Use of diagnostic tools at national level]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Guillén]]></surname>
<given-names><![CDATA[Rosa]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
<xref ref-type="aff" rid="A a"/>
<xref ref-type="aff" rid="A4"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Blasco]]></surname>
<given-names><![CDATA[José]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Funes]]></surname>
<given-names><![CDATA[Patricia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Granado]]></surname>
<given-names><![CDATA[Dominich]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Hospital Central, Instituto de Previsión Social Laboratorio de Urgencias ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Paraguay</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Hospital Central, Instituto de Previsión Social Servicio de Urología ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Paraguay</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Universidad Nacional de Asunción Instituto de Investigaciones en Ciencias de la Salud ]]></institution>
<addr-line><![CDATA[San Lorenzo ]]></addr-line>
<country>Paraguay</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Universidad Nacional de Asunción Facultad de Ciencias Médicas Cátedra de Bioquímica]]></institution>
<addr-line><![CDATA[San Lorenzo ]]></addr-line>
<country>Paraguay</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>08</month>
<year>2018</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>08</month>
<year>2018</year>
</pub-date>
<volume>16</volume>
<numero>2</numero>
<fpage>94</fpage>
<lpage>99</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.iics.una.py/scielo.php?script=sci_arttext&amp;pid=S1812-95282018000200094&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.iics.una.py/scielo.php?script=sci_abstract&amp;pid=S1812-95282018000200094&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.iics.una.py/scielo.php?script=sci_pdf&amp;pid=S1812-95282018000200094&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN La cistinuria es una enfermedad genética que se engloba dentro de alteraciones congénitas del transporte de aminoácidos con formación de cálculos en las vías urinarias, si bien es poco frecuente se caracteriza por su elevada recurrencia. En este trabajo presentamos el caso de una paciente de 34 años, con antecedentes de haber perdido un riñón por episodios anteriores de litiasis y con múltiples recidivas que es diagnosticada mediante la detección de cistina por espectroscopía infrarroja como componente único de 96 fragmentos de cálculos removidos mediante nefrolitotomía percutánea. La paciente fue evaluada laboratorialmente mediante el perfil metabólico y la cristaluria. Las indicaciones de tratamiento específicas incluyeron la administración de agentes alcalinizantes, régimen nutricional, y entrenamiento para control de pH urinario. Es importante señalar la agresividad de la litiasis de cistina con las consecuencias que puede tener la calidad de vida del paciente, y por tanto la importancia de contar con capacidades instaladas a nivel país para el diagnóstico y seguimiento de litiasis genéticas como la causada por la cistinuria.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT Cystinuria is a genetic disease that is included among congenital defects of renal amino acids transport that causes urinary stone formation. Although it is rare, it is characterized by its high recurrence. We present the case of a 34-year-old patient that lost one of her kidney because of recurrent episodes of lithiasis, and that was diagnosed by the detection of cystine with infrared spectroscopy as the sole component of 96 stone fragments removed by percutaneous nephrolithotomy. The patient was evaluated by metabolic profile and crystalluria. The specific treatment indications included the administration of alkalinizing agents, nutritional regimen, and training for personal measurement of urinary pH. This case highlights the aggressiveness of cystine stones with the consequences that may have on the quality of the patient life, and therefore the importance of having installed proper diagnostic capacities at national level to detect and monitor treatment efficacy in genetic lithiasis such as cystinuria.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[cistinuria]]></kwd>
<kwd lng="es"><![CDATA[Litiasis urinaria]]></kwd>
<kwd lng="es"><![CDATA[enfermedad renal genética]]></kwd>
<kwd lng="en"><![CDATA[cystinuria]]></kwd>
<kwd lng="en"><![CDATA[urolithiasis]]></kwd>
<kwd lng="en"><![CDATA[genetic kidney disease]]></kwd>
</kwd-group>
</article-meta>
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