<?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>2709-7927</journal-id>
<journal-title><![CDATA[Acta Médica del Centro]]></journal-title>
<abbrev-journal-title><![CDATA[Acta méd centro]]></abbrev-journal-title>
<issn>2709-7927</issn>
<publisher>
<publisher-name><![CDATA[Hospital Provincial Clínico Quirúrgico Universitario Arnaldo Milián Castro]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S2709-79272021000400618</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Síndrome de Bardet-Biedl, controversias diagnósticas desde la perspectiva nefrológica. Presentación de un paciente]]></article-title>
<article-title xml:lang="en"><![CDATA[Bardet-Biedl syndrome, diagnostic controversies from a nephrological perspective. Presentation of a patient]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Cruz Abascal]]></surname>
<given-names><![CDATA[Rafael Enrique]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[González Cárdenas]]></surname>
<given-names><![CDATA[Yuniel]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Castillo Bermúdez]]></surname>
<given-names><![CDATA[Gelsy]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Hospital Provincial Clínico Quirúrgico Universitario &#8220;Arnaldo Milián Castro&#8221;  ]]></institution>
<addr-line><![CDATA[Santa Clara Villa Clara]]></addr-line>
<country>Cuba</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>12</month>
<year>2021</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>12</month>
<year>2021</year>
</pub-date>
<volume>15</volume>
<numero>4</numero>
<fpage>618</fpage>
<lpage>623</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_arttext&amp;pid=S2709-79272021000400618&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_abstract&amp;pid=S2709-79272021000400618&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_pdf&amp;pid=S2709-79272021000400618&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN  Introducción:  el síndrome de Bardet-Biedl supone una rara enfermedad hereditaria perteneciente a las ciliopatías que tiene un patrón de transmisión autosómico recesivo y con heterogeneidad de locus.  Información del paciente:  paciente de 37 años de edad, masculino y color de piel blanca, de procedencia social campesina, que recibió trasplante renal de donador cadavérico. En su seguimiento se constató que padecía retinosis pigmentaria, retraso mental y enfermedad quística renal; inicialmente la etiología de la nefropatía originaria fue interpretada como enfermedad renal poliquística autosómica dominante. En la exploración clínica se encontró polidactilia en la mano derecha, lo que es un signo patognomónico de esta enfermedad. Su evolución postinjerto ha sido excelente, sin acusar morbilidad significativa.  Conclusiones:  debido a su heterogeneidad las enfermedades renales quísticas no siempre responden a una misma denominación. Al asistir al primer paciente con síndrome de Bardet-Biedl se hace pertinente establecer el diagnóstico diferencial de la enfermedad renal poliquística y de la nefropatía originaria, lo que es pertinente para el seguimiento y el manejo postrasplante.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT  Introduction:  Bardet-Biedl syndrome is a rare hereditary disease belonging to the ciliopathies with autosomal recessive transmission pattern and locus heterogeneity.  Patient information:  37-year-old male patient with white skin color, of rural social origin, who received a renal transplant from cadaveric donor. In his follow-up it was found that he suffered from retinitis pigmentosa, mental retardation and renal cystic disease; initially the etiology of the original nephropathy was interpreted as autosomal dominant polycystic kidney disease. On clinical examination, polydactyly was found in the right hand, which is a pathognomonic sign of this disease. His post-graft evolution has been excellent, with no significant morbidity.  Conclusions:  due to their heterogeneity, cystic kidney diseases do not always respond to the same denomination. When attending the first patient with Bardet-Biedl syndrome it becomes relevant to establish the differential diagnosis of polycystic kidney disease and the original nephropathy, which is relevant for follow-up and post-transplant management.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[síndrome de Bardet-Biedl]]></kwd>
<kwd lng="es"><![CDATA[diagnóstico diferencial]]></kwd>
<kwd lng="en"><![CDATA[Bardet-Biedl Syndrome]]></kwd>
<kwd lng="en"><![CDATA[diagnosis differential]]></kwd>
</kwd-group>
</article-meta>
</front><back>
<ref-list>
<ref id="B1">
<label>1</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Ladino]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Galvis]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Yasnó]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Ramírez]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Beltrán]]></surname>
<given-names><![CDATA[OI]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Variante patogénica homocigótica del gen BBS10 en un paciente con síndrome de Bardet-Biedl]]></article-title>
<source><![CDATA[Biomédica]]></source>
<year>2018</year>
<volume>38</volume>
<page-range>308-19</page-range></nlm-citation>
</ref>
<ref id="B2">
<label>2</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Castro-Sánchez]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Álvarez-Satta]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Pereiro]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<name>
<surname><![CDATA[Piñeiro-Gallego]]></surname>
<given-names><![CDATA[MT]]></given-names>
</name>
<name>
<surname><![CDATA[Valverde]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Algoritmo para el estudio molecular del síndrome de Bardet-Biedl en España]]></article-title>
<source><![CDATA[Med Clin]]></source>
<year>2015</year>
<volume>145</volume>
<numero>4</numero>
<issue>4</issue>
<page-range>147-52</page-range></nlm-citation>
</ref>
<ref id="B3">
<label>3</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Zacchia]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Di Lorio]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
<name>
<surname><![CDATA[Trepiccione]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Caterino]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Capasso]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[The kidney in Bardet-Biedl syndrome: Possible pathogenesis of urine concentrating defect]]></article-title>
<source><![CDATA[Kidney Dis]]></source>
<year>2017</year>
<volume>3</volume>
<numero>2</numero>
<issue>2</issue>
<page-range>57-65</page-range></nlm-citation>
</ref>
<ref id="B4">
<label>4</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Ansley]]></surname>
<given-names><![CDATA[SJ]]></given-names>
</name>
<name>
<surname><![CDATA[Badano]]></surname>
<given-names><![CDATA[JL]]></given-names>
</name>
<name>
<surname><![CDATA[Blacque]]></surname>
<given-names><![CDATA[OE]]></given-names>
</name>
<name>
<surname><![CDATA[Hill]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Hoskins]]></surname>
<given-names><![CDATA[BE]]></given-names>
</name>
<name>
<surname><![CDATA[Leitch]]></surname>
<given-names><![CDATA[CC]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome]]></article-title>
<source><![CDATA[Nature]]></source>
<year>2003</year>
<volume>425</volume>
<numero>6958</numero>
<issue>6958</issue>
<page-range>628-33</page-range></nlm-citation>
</ref>
<ref id="B5">
<label>5</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Acosta-Ochoa]]></surname>
<given-names><![CDATA[MI]]></given-names>
</name>
<name>
<surname><![CDATA[Ampuero-Anachuri]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Tavarez-Paniagua]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Plagaro-Cordero]]></surname>
<given-names><![CDATA[ME]]></given-names>
</name>
<name>
<surname><![CDATA[Molina-Miguel]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Síndrome de Bardet-Biedl, modelo de ciliopatía e importancia del compromiso renal]]></article-title>
<source><![CDATA[Nefrología (Madr)]]></source>
<year>2013</year>
<volume>33</volume>
<numero>5</numero>
<issue>5</issue>
<page-range>734-5</page-range></nlm-citation>
</ref>
<ref id="B6">
<label>6</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Forsythe]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Kenny]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Bacchelli]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Beales]]></surname>
<given-names><![CDATA[PL]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Managing Bardet-Biedl Syndrome-Now and in the future]]></article-title>
<source><![CDATA[Front Pediatr]]></source>
<year>2018</year>
<volume>6</volume>
</nlm-citation>
</ref>
</ref-list>
</back>
</article>
