<?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>2301-1254</journal-id>
<journal-title><![CDATA[Anales de la Facultad de Medicina]]></journal-title>
<abbrev-journal-title><![CDATA[Anfamed]]></abbrev-journal-title>
<issn>2301-1254</issn>
<publisher>
<publisher-name><![CDATA[Universidad de la República. Facultad de Medicina]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S2301-12542026000101402</article-id>
<article-id pub-id-type="doi">10.25184/anfamed2025v13n1a3</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Desafíos clínicos del síndrome de Gitelman: más allá de la hipopotasemia.]]></article-title>
<article-title xml:lang="en"><![CDATA[Clinical challenges of Gitelman syndrome: beyond hypokalemia.]]></article-title>
<article-title xml:lang="pt"><![CDATA[Desafios clínicos da síndrome de Gitelman: além da hipocalemia.]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Segura-Sosa]]></surname>
<given-names><![CDATA[Laura Sofia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Saavedra-Torres]]></surname>
<given-names><![CDATA[Paula María Andrea]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Escobar-Gómez]]></surname>
<given-names><![CDATA[Bertha Elisa]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[García-Agudelo]]></surname>
<given-names><![CDATA[Lorena]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Hospital Regional de la Orinoquía  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Colombia</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>00</month>
<year>2026</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>00</month>
<year>2026</year>
</pub-date>
<volume>13</volume>
<numero>1</numero>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_arttext&amp;pid=S2301-12542026000101402&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_abstract&amp;pid=S2301-12542026000101402&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_pdf&amp;pid=S2301-12542026000101402&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  Introducción:  El síndrome de Gitelman es un trastorno hereditario autosómico recesivo originado por mutaciones en el gen SLC12A3, que se caracteriza por presentar alcalosis metabólica, hipopotasemia, hipomagnesemia e hipocalciuria y produce manifestaciones clínicas como calambres musculares, artralgia, sensación de debilidad y pérdida de la fuerza muscular, con cifras tensionales con tendencia a la hipotensión. Su diagnóstico se basa en la correlación de las manifestaciones clínicas, hallazgos al examen físico y reporte de los trastornos electrolíticos, sin embargo, la realización de pruebas genéticas garantiza un diagnóstico molecular preciso de manera oportuna.  Presentación de caso:  Hombre de 35 años con antecedente de hipopotasemia con hospitalización en Unidad de Cuidados Intermedios en el 2015, con requerimiento de reanimación cardiopulmonar e intubación orotraqueal, con hipopotasemia severa, hipomagnesemia moderada e hipocalcemia leve. Recientemente, presentó disminución progresiva de la fuerza muscular en extremidades superiores e inferiores, con incapacidad para la bipedestación y dificultad para la marcha, con cifras tensionales en hipertensión estadio I, cursando con hipopotasemia e hipocalcemia severas. Hacen reposición electrolítica endovenosa, con adecuada evolución clínica y mejoría de su sintomatología.  Conclusión:  El síndrome de Gitelman al no ser un trastorno frecuente dentro de la población, se vuelve un desafío clínico su diagnóstico, puesto que las pruebas genéticas y moleculares no son de fácil acceso y sus costos suelen ser elevados. El reconocer sus manifestaciones clínicas contribuye a un diagnóstico oportuno, que previene consecuencias como la muerte cardiaca súbita.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Introduction:  Gitelman syndrome is an autosomal recessive hereditary disorder caused by mutations in the SLC12A3 gene, characterized by metabolic alkalosis, hypokalemia, hypomagnesemia, and hypocalciuria, and producing clinical manifestations such as muscle cramps, arthralgia, a sensation of weakness, and loss of muscle strength, with blood pressure tending toward hypotension. The diagnosis is based on correlating clinical manifestations, physical examination findings, and electrolyte disorder reports; however, genetic testing ensures an accurate molecular diagnosis in a timely manner.  Case presentation:  A 35-year-old man with a history of hypokalemia requiring hospitalization in an intermediate care unit in 2015, during which he underwent cardiopulmonary resuscitation and orotracheal intubation, presented with severe hypokalemia, moderate hypomagnesemia, and mild hypocalcemia. Recently, he presented with progressive muscle weakness in the upper and lower extremities, inability to stand, and difficulty walking, with blood pressure readings in stage 1 hypertension, accompanied by severe hypokalemia and hypocalcemia. Intravenous electrolyte replacement was administered, with adequate clinical progress and improvement in her symptoms.  Conclusion:  Gitelman syndrome, being an uncommon disorder in the general population, poses a clinical diagnostic challenge, since genetic and molecular tests are not readily accessible and their costs are often high. Recognizing its clinical manifestations contributes to timely diagnosis, which prevents consequences such as sudden cardiac death.]]></p></abstract>
<abstract abstract-type="short" xml:lang="pt"><p><![CDATA[Resumo  Introdução: A síndrome de Gitelman é uma doença hereditária autossómica recessiva causada por mutações no gene SLC12A3, caracterizada pela presença de alcalose metabólica, hipocalciemia, hipomagnesemia e hipocalciúria, e que produz manifestações clínicas como cãibras musculares, artralgia, sensação de fraqueza e perda de força muscular, com pressões arteriais com tendência para a hipotensão. O seu diagnóstico baseia-se na correlação das manifestações clínicas, achados do exame físico e relatório dos distúrbios eletrolíticos; no entanto, a realização de testes genéticos garante um diagnóstico molecular preciso em tempo hábil.  Apresentação do caso: Homem de 35 anos com histórico de hipopotasemia com internação na Unidade de Cuidados Intermediários em 2015, com necessidade de reanimação cardiopulmonar e intubação orotraqueal, com hipopotasemia grave, hipomagnesemia moderada e hipocalcemia leve. Recentemente, apresentou diminuição progressiva da força muscular nas extremidades superiores e inferiores, com incapacidade de ficar em pé e dificuldade para andar, com pressão arterial em hipertensão estágio I, acompanhada de hipocalemia e hipocalcemia graves. É realizada reposição eletrolítica intravenosa, com evolução clínica adequada e melhora dos sintomas.  Conclusão: Como a síndrome de Gitelman não é uma doença frequente na população, o seu diagnóstico torna-se um desafio clínico, uma vez que os testes genéticos e moleculares não são de fácil acesso e os seus custos são geralmente elevados. Reconhecer as suas manifestações clínicas contribui para um diagnóstico oportuno, que previne consequências como a morte súbita cardíaca.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Síndrome de Gitelman]]></kwd>
<kwd lng="es"><![CDATA[Hipopotasemia]]></kwd>
<kwd lng="es"><![CDATA[Arritmias Cardíacas]]></kwd>
<kwd lng="es"><![CDATA[Hipotensión]]></kwd>
<kwd lng="es"><![CDATA[Enfermedades Genéticas Congénitas]]></kwd>
<kwd lng="en"><![CDATA[Gitelman Syndrome]]></kwd>
<kwd lng="en"><![CDATA[Hypokalemia]]></kwd>
<kwd lng="en"><![CDATA[Arrhythmias]]></kwd>
<kwd lng="en"><![CDATA[Cardiac]]></kwd>
<kwd lng="en"><![CDATA[Hypotension]]></kwd>
<kwd lng="en"><![CDATA[Genetic Diseases]]></kwd>
<kwd lng="en"><![CDATA[Inborn]]></kwd>
<kwd lng="pt"><![CDATA[Síndrome de Gitelman]]></kwd>
<kwd lng="pt"><![CDATA[hipocalciemia]]></kwd>
<kwd lng="pt"><![CDATA[arritmias cardíacas]]></kwd>
<kwd lng="pt"><![CDATA[hipotensão]]></kwd>
<kwd lng="pt"><![CDATA[doenças genéticas congénitas]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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