Letter to the Editor
Presence of compound heterozygous mutations in the PKHD1 gene in an asymptomatic patient
Presencia de mutaciones en heterocigosis compuesta en el gen PHKD1 en una paciente asintomática
Read
4926
Timeswas read the article
2149
Total PDF
2777
Total HTML
Share statistics
array:25 [ "pii" => "S2013251420301383" "issn" => "20132514" "doi" => "10.1016/j.nefroe.2020.11.009" "estado" => "S300" "fechaPublicacion" => "2020-11-01" "aid" => "728" "copyright" => "Sociedad Española de Nefrología" "copyrightAnyo" => "2020" "documento" => "simple-article" "crossmark" => 0 "licencia" => "http://creativecommons.org/licenses/by-nc-nd/4.0/" "subdocumento" => "cor" "cita" => "Nefrologia (English Version). 2020;40:672-3" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:1 [ "total" => 0 ] "Traduccion" => array:1 [ "es" => array:20 [ "pii" => "S0211699520300679" "issn" => "02116995" "doi" => "10.1016/j.nefro.2020.04.010" "estado" => "S300" "fechaPublicacion" => "2020-11-01" "aid" => "728" "copyright" => "Sociedad Española de Nefrología" "documento" => "simple-article" "crossmark" => 0 "licencia" => "http://creativecommons.org/licenses/by-nc-nd/4.0/" "subdocumento" => "cor" "cita" => "Nefrologia. 2020;40:672-3" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:1 [ "total" => 0 ] "es" => array:11 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Carta al Director</span>" "titulo" => "Presencia de mutaciones en heterocigosis compuesta en el gen <span class="elsevierStyleItalic">PHKD1</span> en una paciente asintomática" "tienePdf" => "es" "tieneTextoCompleto" => "es" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "672" "paginaFinal" => "673" ] ] "titulosAlternativos" => array:1 [ "en" => array:1 [ "titulo" => "Presence of compound heterozygous mutations in the PHKD1 gene in an asymptomatic patient" ] ] "contieneTextoCompleto" => array:1 [ "es" => true ] "contienePdf" => array:1 [ "es" => true ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0005" "etiqueta" => "Figura 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 564 "Ancho" => 1250 "Tamanyo" => 135534 ] ] "descripcion" => array:1 [ "es" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Ecografía renal y hepática con presencia de quistes en el paciente sintomático.</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "María Isabel Luis-Yanes, Georgina Martínez Gómez, Carolina Tapia-Romero, Patricia Tejera-Carreño, Víctor M. García-Nieto" "autores" => array:5 [ 0 => array:2 [ "nombre" => "María Isabel" "apellidos" => "Luis-Yanes" ] 1 => array:2 [ "nombre" => "Georgina" "apellidos" => "Martínez Gómez" ] 2 => array:2 [ "nombre" => "Carolina" "apellidos" => "Tapia-Romero" ] 3 => array:2 [ "nombre" => "Patricia" "apellidos" => "Tejera-Carreño" ] 4 => array:2 [ "nombre" => "Víctor M." "apellidos" => "García-Nieto" ] ] ] ] ] "idiomaDefecto" => "es" "Traduccion" => array:1 [ "en" => array:9 [ "pii" => "S2013251420301383" "doi" => "10.1016/j.nefroe.2020.11.009" "estado" => "S300" "subdocumento" => "" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:1 [ "total" => 0 ] "idiomaDefecto" => "en" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2013251420301383?idApp=UINPBA000064" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0211699520300679?idApp=UINPBA000064" "url" => "/02116995/0000004000000006/v1_202011280641/S0211699520300679/v1_202011280641/es/main.assets" ] ] "itemSiguiente" => array:20 [ "pii" => "S2013251420301474" "issn" => "20132514" "doi" => "10.1016/j.nefroe.2019.11.006" "estado" => "S300" "fechaPublicacion" => "2020-11-01" "aid" => "684" "copyright" => "Sociedad Española de Nefrología" "documento" => "simple-article" "crossmark" => 0 "licencia" => "http://creativecommons.org/licenses/by-nc-nd/4.0/" "subdocumento" => "cor" "cita" => "Nefrologia (English Version). 2020;40:673-4" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:1 [ "total" => 0 ] "en" => array:11 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Letter to the Editor</span>" "titulo" => "Assessment of tunnelled haemodialysis catheter insertion site using a thermal camera attached to a smartphone: a pilot study" "tienePdf" => "en" "tieneTextoCompleto" => "en" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "673" "paginaFinal" => "674" ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Valoración del orificio de inserción del catéter tunelizado para hemodiálisis mediante el uso de cámara térmica acoplada a <span class="elsevierStyleItalic">smartphone</span>: estudio piloto" ] ] "contieneTextoCompleto" => array:1 [ "en" => true ] "contienePdf" => array:1 [ "en" => true ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:8 [ "identificador" => "fig0005" "etiqueta" => "Fig. 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1127 "Ancho" => 1500 "Tamanyo" => 240197 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0005" "detalle" => "Fig. " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Example of a thermal photograph of the catheter insertion area belonging to one of the patients.</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Francisco Valga, Tania Monzón, Fernando Henriquez, Gloria Anton-Pérez" "autores" => array:4 [ 0 => array:2 [ "nombre" => "Francisco" "apellidos" => "Valga" ] 1 => array:2 [ "nombre" => "Tania" "apellidos" => "Monzón" ] 2 => array:2 [ "nombre" => "Fernando" "apellidos" => "Henriquez" ] 3 => array:2 [ "nombre" => "Gloria" "apellidos" => "Anton-Pérez" ] ] ] ] ] "idiomaDefecto" => "en" "Traduccion" => array:1 [ "es" => array:9 [ "pii" => "S0211699519302012" "doi" => "10.1016/j.nefro.2019.11.004" "estado" => "S300" "subdocumento" => "" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:1 [ "total" => 0 ] "idiomaDefecto" => "es" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0211699519302012?idApp=UINPBA000064" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2013251420301474?idApp=UINPBA000064" "url" => "/20132514/0000004000000006/v1_202012250708/S2013251420301474/v1_202012250708/en/main.assets" ] "itemAnterior" => array:19 [ "pii" => "S2013251420301450" "issn" => "20132514" "doi" => "10.1016/j.nefroe.2020.12.001" "estado" => "S300" "fechaPublicacion" => "2020-11-01" "aid" => "746" "copyright" => "Sociedad Española de Nefrología" "documento" => "article" "crossmark" => 0 "licencia" => "http://creativecommons.org/licenses/by-nc-nd/4.0/" "subdocumento" => "fla" "cita" => "Nefrologia (English Version). 2020;40:664-71" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:1 [ "total" => 0 ] "en" => array:13 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Original article</span>" "titulo" => "The effect of linagliptin on renal progression in type-2 diabetes mellitus patients with chronic kidney disease: A prospective randomized controlled study" "tienePdf" => "en" "tieneTextoCompleto" => "en" "tieneResumen" => array:2 [ 0 => "en" 1 => "es" ] "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "664" "paginaFinal" => "671" ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Efecto de la linagliptina en la progresión renal de los pacientes con diabetes mellitus de tipo 2 y enfermedad renal crónica: un estudio prospectivo controlado y aleatorizado" ] ] "contieneResumen" => array:2 [ "en" => true "es" => true ] "contieneTextoCompleto" => array:1 [ "en" => true ] "contienePdf" => array:1 [ "en" => true ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0010" "etiqueta" => "Fig. 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 883 "Ancho" => 1508 "Tamanyo" => 75851 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0050" class="elsevierStyleSimplePara elsevierViewall">HbA1C changes of patients during 12 month follow up.</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Ali Ihsan Yagoglu, Oguzhan Sıtkı Dizdar, Selahattin Erdem, Berkan Akcakaya, Ali Ihsan Gunal" "autores" => array:5 [ 0 => array:2 [ "nombre" => "Ali Ihsan" "apellidos" => "Yagoglu" ] 1 => array:2 [ "nombre" => "Oguzhan Sıtkı" "apellidos" => "Dizdar" ] 2 => array:2 [ "nombre" => "Selahattin" "apellidos" => "Erdem" ] 3 => array:2 [ "nombre" => "Berkan" "apellidos" => "Akcakaya" ] 4 => array:2 [ "nombre" => "Ali Ihsan" "apellidos" => "Gunal" ] ] ] ] ] "idiomaDefecto" => "en" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2013251420301450?idApp=UINPBA000064" "url" => "/20132514/0000004000000006/v1_202012250708/S2013251420301450/v1_202012250708/en/main.assets" ] "en" => array:15 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Letter to the Editor</span>" "titulo" => "Presence of compound heterozygous mutations in the <span class="elsevierStyleItalic">PKHD1</span> gene in an asymptomatic patient" "tieneTextoCompleto" => true "saludo" => "Dear Editor," "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "672" "paginaFinal" => "673" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "María Isabel Luis-Yanes, Georgina Martínez Gómez, Carolina Tapia-Romero, Patricia Tejera-Carreño, Víctor M. García-Nieto" "autores" => array:5 [ 0 => array:3 [ "nombre" => "María Isabel" "apellidos" => "Luis-Yanes" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 1 => array:3 [ "nombre" => "Georgina" "apellidos" => "Martínez Gómez" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 2 => array:3 [ "nombre" => "Carolina" "apellidos" => "Tapia-Romero" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 3 => array:3 [ "nombre" => "Patricia" "apellidos" => "Tejera-Carreño" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 4 => array:4 [ "nombre" => "Víctor M." "apellidos" => "García-Nieto" "email" => array:1 [ 0 => "vgarcianieto@gmail.com" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] ] "afiliaciones" => array:2 [ 0 => array:3 [ "entidad" => "Sección de Nefrología Pediátrica del Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Spain" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Servicio de Nefrología Pediátrica de la UMAE Hospital de Pediatría CMNO, Guadalajara, Mexico" "etiqueta" => "b" "identificador" => "aff0010" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "<span class="elsevierStyleItalic">Corresponding author</span>." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Presencia de mutaciones en heterocigosis compuesta en el gen <span class="elsevierStyleItalic">PHKD1</span> en una paciente asintomática" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0005" "etiqueta" => "Fig. 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 564 "Ancho" => 1250 "Tamanyo" => 135534 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Renal and liver ultrasound with the presence of cysts in the symptomatic patient.</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Polycystic kidney disease is a clinical and genetically heterogeneous disorder. The <span class="elsevierStyleItalic">autosomal</span><span class="elsevierStyleItalic">recessive polycystic kidney disease</span> (ARPKD) is less common than the autosomal dominant variant (ADPKD); the incidence rate is approximately 1 in every 20,000 births. The causal gene is called <span class="elsevierStyleItalic">PKHD1</span> (<span class="elsevierStyleItalic">polycystic kidney and hepatic disease 1</span>). It encodes the protein fibrocystin that plays a key role in the differentiation of the renal tubules and the bile ducts.</p><p id="par0010" class="elsevierStylePara elsevierViewall">We have had the opportunity to study a family with ARPKD with unusual characteristics. The proband is currently 15 years old; when he was two months of age he was diagnosed with chronic kidney disease and liver cysts. Since he was four years old it was observed a defect in the ability to maintain mental concentration. The current GFR is 56.2<span class="elsevierStyleHsp" style=""></span>mL/min/1.73<span class="elsevierStyleHsp" style=""></span>m<span class="elsevierStyleSup">2</span>. He has secondary arterial hypertension and liver involvement with cysts in segment 6 (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>). His 12-year-old sister is asymptomatic and the kidney and liver ultrasound is normal; renal function is preserved (GFR 113<span class="elsevierStyleHsp" style=""></span>mL/min/1.73<span class="elsevierStyleHsp" style=""></span>m<span class="elsevierStyleSup">2</span>). Both siblings carry two compound heterozygous mutations in the <span class="elsevierStyleItalic">PKHD1</span> gene, p.Arg1624Trp and p.Ile2957Thr. The mother is a carrier of the p.Ile2957Thr mutation and the father of p.Arg1624Trp.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0015" class="elsevierStylePara elsevierViewall">As a hereditary family history, in the paternal branch, the grandfather was diagnosed with renal cysts without apparent alteration in glomerular filtration, the grandmother died due to a brain aneurysm without further work up to comment and a great-uncle died with cystic kidney disease. In the maternal branch, there are only mention of two aunts with recurrent urinary infections one of them with hypercalciuria. Consanguinity is denied.</p><p id="par0020" class="elsevierStylePara elsevierViewall">In studies performed on the <span class="elsevierStyleItalic">PKHD1</span> gene in patients with ARPKD, it has been observed that the p.Arg1624Trp mutation is one of the four most frequently found. Carrier patients have clinical manifestations since the neonatal period<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1,2</span></a> and show chronic kidney disease, renal hypodysplasia, and liver involvement.<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a></p><p id="par0025" class="elsevierStylePara elsevierViewall">The second mutation, p.Ile2957Thr, has been described in consanguineous families. Likewise, it has also been classified as pathological since an early age in Caucasian races.<a class="elsevierStyleCrossRefs" href="#bib0020"><span class="elsevierStyleSup">4,5</span></a></p><p id="par0030" class="elsevierStylePara elsevierViewall">There are genomic studies that have reported gene variants in asymptomatic patients.<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">6</span></a> However, they consist of silent exonic changes that do not alter the amino acid sequence. None of these variants corresponds to those found in the family that we are reporting.</p><p id="par0035" class="elsevierStylePara elsevierViewall">Explaining the phenotypic variability in both siblings is complex. The proband did not present his first symptoms in the immediate prenatal or postnatal period, as described in the majority of ARPKD cases. Presently the patient is at stage 3 of KDIGO classification, at an age that most patients who have survived would require renal replacement therapy.<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">7</span></a> Obviously, in her sister the signs of the disease could appear late, a reason to maintain her under surveillance. It is possible that in this family there is an active DNA methylation process as has been described in the autosomal dominant variant.<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">8</span></a></p></span>" "pdfFichero" => "main.pdf" "tienePdf" => true "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Luis-Yanes MI, Martínez Gómez G, Tapia-Romero C, Tejera-Carreño P, García-Nieto VM. Presencia de mutaciones en heterocigosis compuesta en el gen <span class="elsevierStyleItalic">PHKD1</span> en una paciente asintomática. Nefrologia. 2020;40:672–673.</p>" ] ] "multimedia" => array:1 [ 0 => array:7 [ "identificador" => "fig0005" "etiqueta" => "Fig. 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 564 "Ancho" => 1250 "Tamanyo" => 135534 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Renal and liver ultrasound with the presence of cysts in the symptomatic patient.</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0015" "bibliografiaReferencia" => array:8 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Functional alterations due to amino acids changes and evolutionary comparative analysis of ARPKD and ADPKD genes" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "B.M. Edrees" 1 => "M. Athar" 2 => "Z. Abduljaleel" 3 => "F.A. Al-Allaf" 4 => "M.M. Taher" 5 => "W. Khan" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1016/j.gdata.2016.10.009" "Revista" => array:6 [ "tituloSerie" => "Genom Data" "fecha" => "2016" "volumen" => "10" "paginaInicial" => "127" "paginaFinal" => "134" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/27843768" "web" => "Medline" ] ] ] ] ] ] ] ] 1 => array:3 [ "identificador" => "bib0010" "etiqueta" => "2" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:6 [ 0 => "L. Obeidova" 1 => "T. Seeman" 2 => "V. Elisakova" 3 => "J. Reiterova" 4 => "Puchmajerova" 5 => "J. Stekrova" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1186/s12881-015-0261-3" "Revista" => array:5 [ "tituloSerie" => "BMC Med Genet" "fecha" => "2015" "volumen" => "16" "paginaInicial" => "116" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/26695994" "web" => "Medline" ] ] ] ] ] ] ] ] 2 => array:3 [ "identificador" => "bib0015" "etiqueta" => "3" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Exome sequencing discerns syndromes in patients from consanguineous families with congenital anomalies of the kidneys and urinary tract" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "A. Vivante" 1 => "D. Hwang" 2 => "S. Kohl" 3 => "J. Chen" 4 => "S. Shril" 5 => "J. Schulz" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:5 [ "tituloSerie" => "J Am Soc Nephrol" "fecha" => "2017" "volumen" => "28" "paginaInicial" => "69" "paginaFinal" => "75" ] ] ] ] ] ] 3 => array:3 [ "identificador" => "bib0020" "etiqueta" => "4" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "T. Szabó" 1 => "P. Orosz" 2 => "E. Balogh" 3 => "E. Jávorszky" 4 => "I. Máttyus" 5 => "C. Bereczki" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1007/s00467-018-3992-5" "Revista" => array:6 [ "tituloSerie" => "Pediatr Nephrol" "fecha" => "2018" "volumen" => "33" "paginaInicial" => "1713" "paginaFinal" => "1721" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/29956005" "web" => "Medline" ] ] ] ] ] ] ] ] 4 => array:3 [ "identificador" => "bib0025" "etiqueta" => "5" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "M. Gunay-Aygun" 1 => "M. Tuchman" 2 => "E. Font-Montgomery" 3 => "L. Lukose" 4 => "H. Edwards" 5 => "A. Garcia" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:5 [ "tituloSerie" => "Mol Genet Metab" "fecha" => "2010" "volumen" => "99" "paginaInicial" => "160" "paginaFinal" => "173" ] ] ] ] ] ] 5 => array:3 [ "identificador" => "bib0030" "etiqueta" => "6" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "C. Bergmann" 1 => "J. Senderek" 2 => "E. Windelen" 3 => "F. Küpper" 4 => "I. Middeldorf" 5 => "F. Schneider" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1111/j.1523-1755.2005.00148.x" "Revista" => array:6 [ "tituloSerie" => "Kidney Int" "fecha" => "2005" "volumen" => "67" "paginaInicial" => "829" "paginaFinal" => "848" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/15698423" "web" => "Medline" ] ] ] ] ] ] ] ] 6 => array:3 [ "identificador" => "bib0035" "etiqueta" => "7" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Autosomal recessive polycystic kidney disease: long-term outcome of neonatal survivors" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:4 [ 0 => "S. Roy" 1 => "M.J. Dillon" 2 => "R.S. Trompeter" 3 => "T.M. Barratt" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1007/s004670050281" "Revista" => array:6 [ "tituloSerie" => "Pediatr Nephrol" "fecha" => "1997" "volumen" => "11" "paginaInicial" => "302" "paginaFinal" => "306" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/9203177" "web" => "Medline" ] ] ] ] ] ] ] ] 7 => array:3 [ "identificador" => "bib0040" "etiqueta" => "8" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Genome-scale single nucleotide resolution analysis of DNA methylation in human autosomal dominant polycystic kidney disease" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:6 [ 0 => "S.A. Bowden" 1 => "E.J. Rodger" 2 => "M. Bates" 3 => "A. Chatterjee" 4 => "M.R. Eccles" 5 => "C. Stayner" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1159/000494739" "Revista" => array:6 [ "tituloSerie" => "Am J Nephrol" "fecha" => "2018" "volumen" => "48" "paginaInicial" => "415" "paginaFinal" => "424" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/30463078" "web" => "Medline" ] ] ] ] ] ] ] ] ] ] ] ] ] "idiomaDefecto" => "en" "url" => "/20132514/0000004000000006/v1_202012250708/S2013251420301383/v1_202012250708/en/main.assets" "Apartado" => array:4 [ "identificador" => "35436" "tipo" => "SECCION" "en" => array:2 [ "titulo" => "Letters to the Editor" "idiomaDefecto" => true ] "idiomaDefecto" => "en" ] "PDF" => "https://static.elsevier.es/multimedia/20132514/0000004000000006/v1_202012250708/S2013251420301383/v1_202012250708/en/main.pdf?idApp=UINPBA000064&text.app=https://revistanefrologia.com/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2013251420301383?idApp=UINPBA000064" ]
| Year/Month | Html | Total | |
|---|---|---|---|
| 2024 November | 9 | 11 | 20 |
| 2024 October | 63 | 71 | 134 |
| 2024 September | 67 | 49 | 116 |
| 2024 August | 83 | 76 | 159 |
| 2024 July | 59 | 43 | 102 |
| 2024 June | 82 | 56 | 138 |
| 2024 May | 81 | 38 | 119 |
| 2024 April | 76 | 49 | 125 |
| 2024 March | 67 | 48 | 115 |
| 2024 February | 57 | 55 | 112 |
| 2024 January | 44 | 42 | 86 |
| 2023 December | 46 | 43 | 89 |
| 2023 November | 44 | 49 | 93 |
| 2023 October | 112 | 37 | 149 |
| 2023 September | 84 | 43 | 127 |
| 2023 August | 37 | 19 | 56 |
| 2023 July | 52 | 45 | 97 |
| 2023 June | 58 | 35 | 93 |
| 2023 May | 63 | 40 | 103 |
| 2023 April | 39 | 30 | 69 |
| 2023 March | 62 | 30 | 92 |
| 2023 February | 47 | 31 | 78 |
| 2023 January | 50 | 38 | 88 |
| 2022 December | 80 | 47 | 127 |
| 2022 November | 76 | 72 | 148 |
| 2022 October | 90 | 52 | 142 |
| 2022 September | 52 | 51 | 103 |
| 2022 August | 69 | 51 | 120 |
| 2022 July | 52 | 65 | 117 |
| 2022 June | 49 | 44 | 93 |
| 2022 May | 49 | 30 | 79 |
| 2022 April | 47 | 60 | 107 |
| 2022 March | 54 | 62 | 116 |
| 2022 February | 58 | 47 | 105 |
| 2022 January | 54 | 48 | 102 |
| 2021 December | 51 | 50 | 101 |
| 2021 November | 56 | 48 | 104 |
| 2021 October | 67 | 67 | 134 |
| 2021 September | 42 | 31 | 73 |
| 2021 August | 46 | 46 | 92 |
| 2021 July | 33 | 30 | 63 |
| 2021 June | 34 | 34 | 68 |
| 2021 May | 47 | 41 | 88 |
| 2021 April | 68 | 61 | 129 |
| 2021 March | 74 | 63 | 137 |
| 2021 February | 50 | 26 | 76 |
| 2021 January | 68 | 22 | 90 |
| 2020 December | 29 | 23 | 52 |
Show all
