<?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>1688-1249</journal-id>
<journal-title><![CDATA[Archivos de Pediatría del Uruguay]]></journal-title>
<abbrev-journal-title><![CDATA[Arch. Pediatr. Urug.]]></abbrev-journal-title>
<issn>1688-1249</issn>
<publisher>
<publisher-name><![CDATA[Sociedad Uruguaya de Pediatría]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1688-12492024000301318</article-id>
<article-id pub-id-type="doi">10.31134/ap.95.2.17</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Síndrome artrogriposis - disfunción renal - colestasis. Abordaje diagnóstico y terapéutico del primer caso reportado en Uruguay]]></article-title>
<article-title xml:lang="en"><![CDATA[Arthrogryposis syndrome - kidney dysfunction - cholestasis. Diagnostic and therapeutic approach to the first case reported in Uruguay]]></article-title>
<article-title xml:lang="pt"><![CDATA[Síndrome de artrogripose - disfunção renal - colestase. Abordagem diagnóstica e terapêutica do primeiro caso relatado no Uruguai]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Bermúdez]]></surname>
<given-names><![CDATA[Amanda]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Notejane]]></surname>
<given-names><![CDATA[Martín]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Machado]]></surname>
<given-names><![CDATA[Karina]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,UDELAR Facultad de Medicina ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Uruguay</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,UDELAR Facultad de Medicina Unidad Académica Pediatría B]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Uruguay</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,UDELAR Facultad de Medicina Unidad Académica Pediatría B]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Uruguay</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>00</month>
<year>2024</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>00</month>
<year>2024</year>
</pub-date>
<volume>95</volume>
<numero>2</numero>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_arttext&amp;pid=S1688-12492024000301318&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_abstract&amp;pid=S1688-12492024000301318&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_pdf&amp;pid=S1688-12492024000301318&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen:  Introducción:  el si&#769;ndrome de artrogriposis, disfuncio&#769;n tubular renal y colestasis (ARC) es un trastorno genético raro, de presentación multisistémica y mal pronóstico.  Objetivos: describir el abordaje diagno&#769;stico y terape&#769;utico interdisciplinario de un lactante pequen&#771;o portador de este síndrome.  Caso clínico:  18 meses, sexo masculino. Sin antecedentes perinatales. Padres sanos, no consanguíneos. Al nacimiento se constató pie talo valgo, sin otras dismorfias. Desnutrición del primer trimestre. Piel seca y descamante. Ictericia progresiva colestática. Se descartó atresia de vía biliar y otras causas obstructivas, fibrosis quística, así como causas infecciosas, endocrinológicas y metabólicas. Se sospechó un síndrome genético de colestasis familiar intrahepática. Se confirmó por estudio genético el síndrome ARC. A los 7 meses, instaló disfunción renal tubular tipo Fanconi. Se realizó abordaje y seguimiento interdisciplinario. Presentó múltiples exacerbaciones de su tubulopatía, en contexto de infecciones. Falleció a los 18 meses en una nueva descompensación.  Discusión:  los tres signos que guían al diagnóstico clínico de este si&#769;ndrome son: artrogriposis, disfuncio&#769;n tubular renal y colestasis. Puede asociar, con menos frecuencia, ictiosis, malformacio&#769;n del sistema nervioso central, enfermedades cardíacas, anomali&#769;as tromboci&#769;ticas y retraso del crecimiento. La confirmación diagnóstica se realiza mediante estudio genético. No existe tratamiento curativo, éste se basa en el control sintomático y la corrección de alteraciones iónicas y metabólicas. El pronóstico es malo, con supervivencia no mayor a dos años, por lo que es necesario el seguimiento interdisciplinario, incluyendo precozmente los cuidados paliativos.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Summary:  Introduction:  the arthrogryposis, renal tubular dysfunction and cholestasis (arc) syndrome is a rare genetic disorder, with multisystem presentation and poor prognosis.  Objectives: the purpose of this paper is to describe the interdisciplinary diagnostic and therapeutic approach of a small infant with this syndrome.  Clinical case:  18 months, male. No perinatal history. Healthy parents, not consanguineous. At birth, talus valgus foot was confirmed, with no other dysmorphisms. First trimester malnutrition. Dry and peeling skin. Progressive cholestatic jaundice. Bile duct atresia and other obstructive causes, cystic fibrosis, as well as infectious, endocrinological and metabolic causes were ruled out. A genetic syndrome of familial intrahepatic cholestasis was suspected. ARC syndrome was confirmed by genetic study. At 7 months he developed Fanconi-type tubular renal dysfunction. An interdisciplinary approach and follow-up was carried out. He had multiple exacerbations of his tubulopathy, in the context of infections. He died after a year and 6 months in a new decompensation.  Discussion:  the three signs that guide the clinical diagnosis of this syndrome are: arthrogryposis, renal tubular dysfunction and cholestasis. It may be associated, less frequently, with ichthyosis, malformation of the central nervous system, heart disease, thrombocytic abnormalities and growth retardation. Diagnostic confirmation is carried out through genetic study. There is no curative treatment; it is based on symptomatic control and correction of ionic and metabolic alterations. The prognosis is poor, with survival of no more than 2 years, so interdisciplinary follow-up is necessary, including early palliative care.]]></p></abstract>
<abstract abstract-type="short" xml:lang="pt"><p><![CDATA[Resumo:  Introdução:  a síndrome da artrogripose, disfunção tubular renal e colestase (ARC) é uma doença genética rara, com apresentação multissistêmica e mau prognóstico.  Objetivos:  descrever a abordagem diagnóstica e terapêutica interdisciplinar de um lactente pequeno com essa síndrome.  Caso clínico:  18 meses, sexo masculino. Sem história perinatal. Pais saudáveis, não consanguíneos. Ao nascimento foi confirmado pé tálus valgo, sem outros dismorfismos. Desnutrição no primeiro trimestre. Pele seca e descamada. Icterícia colestática progressiva. Foram descartadas atresia de vias biliares e outras causas obstrutivas, fibrose cística, bem como causas infecciosas, endocrinológicas e metabólicas. Suspeitou-se de uma síndrome genética de colestase intra-hepática familiar. A síndrome ARC foi confirmada por estudo genético. Aos 7 meses desenvolveu disfunção renal tubular tipo Fanconi. Foi realizada abordagem e acompanhamento interdisciplinar. Teve múltiplas exacerbações da sua tubulopatia, no contexto de infecções. Faleceu após um ano e 6 meses em nova descompensação.  Discussão: os três sinais que norteiam o diagnóstico clínico desta síndrome são: artrogripose, disfunção tubular renal e colestase. Pode estar associada, menos frequentemente, a ictiose, malformação do sistema nervoso central, doenças cardíacas, anomalias trombocíticas e retardo de crescimento. A confirmação diagnóstica é realizada através de estudo genético. Não existe tratamento curativo; baseia-se no controle sintomático e na correção das alterações iônicas e metabólicas. O prognóstico é ruim, com sobrevida não superior a 2 anos, sendo necessário acompanhamento interdisciplinar, incluindo cuidados paliativos precoces.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Artrogriposis]]></kwd>
<kwd lng="es"><![CDATA[Colestasis]]></kwd>
<kwd lng="es"><![CDATA[Síndrome de Fanconi]]></kwd>
<kwd lng="es"><![CDATA[Niño]]></kwd>
<kwd lng="en"><![CDATA[Arthrogryposis]]></kwd>
<kwd lng="en"><![CDATA[Cholestasis]]></kwd>
<kwd lng="en"><![CDATA[Fanconi síndrome]]></kwd>
<kwd lng="en"><![CDATA[Child]]></kwd>
<kwd lng="pt"><![CDATA[Artrogripose]]></kwd>
<kwd lng="pt"><![CDATA[Colestase]]></kwd>
<kwd lng="pt"><![CDATA[Síndrome de Fanconi]]></kwd>
<kwd lng="pt"><![CDATA[Criança]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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