Scientific Letter
A renal hyperechogenicity study: From the phenotype to the genotype in the mutation of hepatocyte nuclear factor-1 beta gene
Estudio de hiperecogenicidad renal: del fenotipo al genotipo en la mutación del gen del factor nuclear hepático1β
Pilar Ribes Hernándeza,
, Adoración Granados Molinaa, Alicia García Pérezb, Saoud Tahsin Swafiric, Esther Pérez Carbajod
Corresponding author
a Servicio de Pediatría, Hospital Universitario Infanta Elena, Valdemoro, Madrid, Spain
b Servicio de Nefrología, Hospital Universitario Infanta Elena, Valdemoro, Madrid, Spain
c Servicio de Genética, Hospital Universitario Fundación Jiménez Díaz, Madrid, Spain
d Servicio de Ginecología y Obstetricia, Hospital Universitario Infanta Elena, Valdemoro, Madrid, Spain
Read
15691
Timeswas read the article
2018
Total PDF
13673
Total HTML
Share statistics
array:25 [ "pii" => "S234128791930050X" "issn" => "23412879" "doi" => "10.1016/j.anpede.2018.05.006" "estado" => "S300" "fechaPublicacion" => "2019-05-01" "aid" => "2454" "copyright" => "Asociación Española de Pediatría" "copyrightAnyo" => "2018" "documento" => "simple-article" "crossmark" => 1 "licencia" => "http://creativecommons.org/licenses/by-nc-nd/4.0/" "subdocumento" => "crp" "cita" => "An Pediatr (Barc). 2019;90:315-6" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:2 [ "total" => 870 "formatos" => array:3 [ "EPUB" => 58 "HTML" => 635 "PDF" => 177 ] ] "Traduccion" => array:1 [ "es" => array:20 [ "pii" => "S1695403318301887" "issn" => "16954033" "doi" => "10.1016/j.anpedi.2018.05.005" "estado" => "S300" "fechaPublicacion" => "2019-05-01" "aid" => "2454" "copyright" => "Asociación Española de Pediatría" "documento" => "simple-article" "crossmark" => 1 "licencia" => "http://creativecommons.org/licenses/by-nc-nd/4.0/" "subdocumento" => "crp" "cita" => "An Pediatr (Barc). 2019;90:315-6" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:2 [ "total" => 5043 "formatos" => array:3 [ "EPUB" => 166 "HTML" => 4242 "PDF" => 635 ] ] "es" => array:11 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Carta científica</span>" "titulo" => "Estudio de hiperecogenicidad renal: del fenotipo al genotipo en la mutación del gen del factor nuclear hepático1β" "tienePdf" => "es" "tieneTextoCompleto" => "es" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "315" "paginaFinal" => "316" ] ] "titulosAlternativos" => array:1 [ "en" => array:1 [ "titulo" => "A renal hyperechogenicity study: from the phenotype to the genotype in the mutation of hepatocyte nuclear factor-1 beta gene" ] ] "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" => 1761 "Ancho" => 1500 "Tamanyo" => 146499 ] ] "descripcion" => array:1 [ "es" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Hiperecogenicidad y quiste renal.</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Pilar Ribes Hernández, Adoración Granados Molina, Alicia García Pérez, Saoud Tahsin Swafiri, Esther Pérez Carbajo" "autores" => array:5 [ 0 => array:2 [ "nombre" => "Pilar" "apellidos" => "Ribes Hernández" ] 1 => array:2 [ "nombre" => "Adoración" "apellidos" => "Granados Molina" ] 2 => array:2 [ "nombre" => "Alicia" "apellidos" => "García Pérez" ] 3 => array:2 [ "nombre" => "Saoud" "apellidos" => "Tahsin Swafiri" ] 4 => array:2 [ "nombre" => "Esther" "apellidos" => "Pérez Carbajo" ] ] ] ] ] "idiomaDefecto" => "es" "Traduccion" => array:1 [ "en" => array:9 [ "pii" => "S234128791930050X" "doi" => "10.1016/j.anpede.2018.05.006" "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/S234128791930050X?idApp=UINPBA00005H" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S1695403318301887?idApp=UINPBA00005H" "url" => "/16954033/0000009000000005/v1_201905020855/S1695403318301887/v1_201905020855/es/main.assets" ] ] "itemSiguiente" => array:20 [ "pii" => "S2341287919300572" "issn" => "23412879" "doi" => "10.1016/j.anpede.2019.01.008" "estado" => "S300" "fechaPublicacion" => "2019-05-01" "aid" => "2595" "copyright" => "Asociación Española de Pediatría" "documento" => "article" "crossmark" => 1 "licencia" => "http://creativecommons.org/licenses/by-nc-nd/4.0/" "subdocumento" => "fla" "cita" => "An Pediatr (Barc). 2019;90:317.e1-8" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:2 [ "total" => 939 "formatos" => array:3 [ "EPUB" => 65 "HTML" => 580 "PDF" => 294 ] ] "en" => array:12 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Spanish Association of Paediatrics</span>" "titulo" => "Oseltamivir for the treatment of influenza in children and adolescents" "tienePdf" => "en" "tieneTextoCompleto" => "en" "tieneResumen" => array:2 [ 0 => "en" 1 => "es" ] "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "317.e1" "paginaFinal" => "317.e8" ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Oseltamivir para el tratamiento de la gripe en niños y adolescentes" ] ] "contieneResumen" => array:2 [ "en" => true "es" => true ] "contieneTextoCompleto" => array:1 [ "en" => true ] "contienePdf" => array:1 [ "en" => true ] "autores" => array:2 [ 0 => array:2 [ "autoresLista" => "Alfredo Tagarro, Marta Cruz-Cañete, Enrique Otheo, Cristian Launes, José Antonio Couceiro, Carlos Pérez, Santiago Alfayate" "autores" => array:8 [ 0 => array:2 [ "nombre" => "Alfredo" "apellidos" => "Tagarro" ] 1 => array:2 [ "nombre" => "Marta" "apellidos" => "Cruz-Cañete" ] 2 => array:2 [ "nombre" => "Enrique" "apellidos" => "Otheo" ] 3 => array:2 [ "nombre" => "Cristian" "apellidos" => "Launes" ] 4 => array:2 [ "nombre" => "José Antonio" "apellidos" => "Couceiro" ] 5 => array:2 [ "nombre" => "Carlos" "apellidos" => "Pérez" ] 6 => array:2 [ "nombre" => "Santiago" "apellidos" => "Alfayate" ] 7 => array:1 [ "colaborador" => "on behalf of the Respiratory Infections Working Group of the Spanish Society of Paediatric Infectious Diseases (SEIP)" ] ] ] 1 => array:2 [ "autoresLista" => "" "autores" => array:1 [ 0 => array:1 [ "colaborador" => "Members of the Working Group on Respiratory Infections of the SEIP that participated in the review of the manuscript" ] ] ] ] ] "idiomaDefecto" => "en" "Traduccion" => array:1 [ "es" => array:9 [ "pii" => "S1695403319300268" "doi" => "10.1016/j.anpedi.2019.01.009" "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/S1695403319300268?idApp=UINPBA00005H" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2341287919300572?idApp=UINPBA00005H" "url" => "/23412879/0000009000000005/v1_201905020905/S2341287919300572/v1_201905020905/en/main.assets" ] "itemAnterior" => array:20 [ "pii" => "S2341287919300535" "issn" => "23412879" "doi" => "10.1016/j.anpede.2018.04.011" "estado" => "S300" "fechaPublicacion" => "2019-05-01" "aid" => "2455" "copyright" => "Asociación Española de Pediatría" "documento" => "simple-article" "crossmark" => 1 "licencia" => "http://creativecommons.org/licenses/by-nc-nd/4.0/" "subdocumento" => "crp" "cita" => "An Pediatr (Barc). 2019;90:312-4" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:2 [ "total" => 854 "formatos" => array:3 [ "EPUB" => 74 "HTML" => 621 "PDF" => 159 ] ] "en" => array:11 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Scientific Letter</span>" "titulo" => "Aicardi-Goutières syndrome: Phenotypic and genetic spectrum in a series of three cases" "tienePdf" => "en" "tieneTextoCompleto" => "en" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "312" "paginaFinal" => "314" ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Síndrome de Aicardi-Goutières: espectro fenotípico y genético en una serie de 3 casos" ] ] "contieneTextoCompleto" => array:1 [ "en" => true ] "contienePdf" => array:1 [ "en" => true ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 761 "Ancho" => 1300 "Tamanyo" => 73556 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Diffuse and patchy signal abnormalities in white matter in both cerebral hemisphere, hyperintense in T2-weighted images. Enlarged subarachnoid space with frontotemporal predominance in both hemispheres, with widening of the interhemispheric fissure and increased ventricular size (in the absence of increased pressure), compatible with cortical and subcortical atrophy.</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Esther Eugenia Moreno Medinilla, Macarena Villagrán García, María Dolores Mora Ramírez, Rocío Calvo Medina, Jacinto Luis Martínez Antón" "autores" => array:5 [ 0 => array:2 [ "nombre" => "Esther Eugenia" "apellidos" => "Moreno Medinilla" ] 1 => array:2 [ "nombre" => "Macarena" "apellidos" => "Villagrán García" ] 2 => array:2 [ "nombre" => "María Dolores" "apellidos" => "Mora Ramírez" ] 3 => array:2 [ "nombre" => "Rocío" "apellidos" => "Calvo Medina" ] 4 => array:2 [ "nombre" => "Jacinto Luis" "apellidos" => "Martínez Antón" ] ] ] ] ] "idiomaDefecto" => "en" "Traduccion" => array:1 [ "es" => array:9 [ "pii" => "S1695403318301899" "doi" => "10.1016/j.anpedi.2018.04.018" "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/S1695403318301899?idApp=UINPBA00005H" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2341287919300535?idApp=UINPBA00005H" "url" => "/23412879/0000009000000005/v1_201905020905/S2341287919300535/v1_201905020905/en/main.assets" ] "en" => array:15 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Scientific Letter</span>" "titulo" => "A renal hyperechogenicity study: From the phenotype to the genotype in the mutation of hepatocyte nuclear factor-1 beta gene" "tieneTextoCompleto" => true "saludo" => "Dear Editor:" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "315" "paginaFinal" => "316" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "Pilar Ribes Hernández, Adoración Granados Molina, Alicia García Pérez, Saoud Tahsin Swafiri, Esther Pérez Carbajo" "autores" => array:5 [ 0 => array:4 [ "nombre" => "Pilar Ribes" "apellidos" => "Hernández" "email" => array:1 [ 0 => "pilar.ribes.hernandez@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" ] ] ] 1 => array:3 [ "nombre" => "Adoración Granados" "apellidos" => "Molina" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 2 => array:3 [ "nombre" => "Alicia García" "apellidos" => "Pérez" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 3 => array:3 [ "nombre" => "Saoud Tahsin" "apellidos" => "Swafiri" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "aff0015" ] ] ] 4 => array:3 [ "nombre" => "Esther Pérez" "apellidos" => "Carbajo" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">d</span>" "identificador" => "aff0020" ] ] ] ] "afiliaciones" => array:4 [ 0 => array:3 [ "entidad" => "Servicio de Pediatría, Hospital Universitario Infanta Elena, Valdemoro, Madrid, Spain" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Servicio de Nefrología, Hospital Universitario Infanta Elena, Valdemoro, Madrid, Spain" "etiqueta" => "b" "identificador" => "aff0010" ] 2 => array:3 [ "entidad" => "Servicio de Genética, Hospital Universitario Fundación Jiménez Díaz, Madrid, Spain" "etiqueta" => "c" "identificador" => "aff0015" ] 3 => array:3 [ "entidad" => "Servicio de Ginecología y Obstetricia, Hospital Universitario Infanta Elena, Valdemoro, Madrid, Spain" "etiqueta" => "d" "identificador" => "aff0020" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Estudio de hiperecogenicidad renal: del fenotipo al genotipo en la mutación del gen del factor nuclear hepático1β" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1761 "Ancho" => 1500 "Tamanyo" => 146499 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Renal hyperechogenicity and cyst.</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">The presence of hyperechoic kidneys during a prenatal ultrasound evaluation can be indicative of a wide variety of renal diseases, ranging from clinically insignificant transient involvement to diseases with progressive deterioration of renal function.<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">1</span></a> This hyperechogenicity is frequently a manifestation of renal cystic disease.<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">1,2</span></a> There are many conditions that manifest with renal cysts, both genetic and acquired (<a class="elsevierStyleCrossRef" href="#tbl0005">Table 1</a>),<a class="elsevierStyleCrossRefs" href="#bib0045"><span class="elsevierStyleSup">3,4</span></a> and they may have onset from intrauterine life through adulthood. The most frequent ones are autosomal dominant polycystic kidney disease, autosomal recessive polycystic kidney disease, nephronophthisis and those recently reclassified as autosomal dominant tubulointerstitial kidney disease.<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">4</span></a> The differential diagnosis must take into account the ultrasound findings, the family history and the presence of extrarenal abnormalities.</p><elsevierMultimedia ident="tbl0005"></elsevierMultimedia><p id="par0010" class="elsevierStylePara elsevierViewall">We present the case of a family with renal cystic disease of a genetic aetiology in which the index case that led to diagnosis was a newborn in whom prenatal ultrasound had detected increased echogenicity in both kidneys.</p><p id="par0015" class="elsevierStylePara elsevierViewall">The patient underwent an evaluation at 1-month post birth for assessment of the prenatal bilateral renal hyperechogenicity. The postnatal ultrasound examination confirmed increased echogenicity in the renal cortex with presence of microcysts (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>).</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0020" class="elsevierStylePara elsevierViewall">The personal history was: product of a twin pregnancy achieved by in vitro fertilization due to primary infertility (fallopian tube obstruction). Maternal gestational diabetes treated with insulin. The prenatal ultrasound examination at week 20 revealed increased echogenicity in the kidneys that persisted until birth, with diminished corticomedullary differentiation, normal kidney size and absence of cysts. This was associated with polyhydramnios from week 26. There were signs of preterm labour at 32 weeks that required treatment with tocolytics and steroids to promote lung maturation. The patient was delivered by caesarean section at 37 weeks’ gestation with a birth weight of 2095<span class="elsevierStyleHsp" style=""></span>g. He was admitted to the neonatal ward due to transient feeding intolerance.</p><p id="par0025" class="elsevierStylePara elsevierViewall">The family history was: healthy father, mother with history of spondylodiscitis in L4-L5 treated with a graft, tuberculous pleural effusion at age 20 years and allergic rhinitis. No history of urologic disease, chronic renal disease or renal replacement therapy. Healthy twin sister except for evidence in the postnatal ultrasound of a nonspecific abnormality in the gallbladder.</p><p id="par0030" class="elsevierStylePara elsevierViewall">Both parents underwent an ultrasound examination. The mother had a few clinically insignificant renal cysts at the initial evaluation, but her glomerular filtration rate showed progressive deterioration until reaching chronic kidney disease stage G2 to G3a A1. Magnetic resonance imaging revealed multiple renal cysts with progressive development of ureteropelvic junction stenosis in the left kidney. The mother exhibited a sustained mild liver function impairment with evidence of a liver haemangioma on imaging. The mother had a second pregnancy, this time spontaneous, also with insulin-dependent gestational diabetes, and once again prenatal ultrasound detected increased echogenicity in the kidneys of the foetus starting at week 20, associated with polyhydramnios from week 30. The postnatal ultrasound confirmed the bilateral renal hyperechogenicity with presence of microcysts.</p><p id="par0035" class="elsevierStylePara elsevierViewall">Given the evidence supporting a hereditary genetic cause, including bilateral renal hyperechogenicity in 2 foetuses of a mother with a history fallopian tube obstruction, insulin-dependent gestational diabetes, chronic kidney disease with cysts ureteropelvic junction stenosis and mild liver function impairment, we ordered a genetic evaluation to assess for suspected renal cysts and diabetes syndrome.</p><p id="par0040" class="elsevierStylePara elsevierViewall">This syndrome is caused by mutations in the gene encoding human transcription factor 2, also known as hepatocyte nuclear factor-1β (<span class="elsevierStyleItalic">HNF-1β</span>; 17q12).<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">1,2,5,6</span></a> This factor is involved in the organogenesis of various tissues in the pancreas, liver and genitourinary tract, which explains the phenotype of this disorder. It has an autosomal dominant pattern of inheritance. The most common features of this syndrome are renal cysts and maturity-onset diabetes of the young (MODY), with other features of variable frequency including pancreatic, genital, hepatic, metabolic and neurologic abnormalities.<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">5</span></a> Mutations in the <span class="elsevierStyleItalic">HNF-1β</span> gene correspond to a broad phenotypic spectrum, and large case series published in the literature have shown a wide range of renal impairment, from foetal death due to prenatal kidney failure to normal renal function in adulthood, the degree of which is not associated with the genotype.<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">1,6</span></a> Mutations in the <span class="elsevierStyleItalic">HNF-1β</span> gene are one of the main causes of hyperechoic kidneys in the foetus.<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">1,2</span></a></p><p id="par0045" class="elsevierStylePara elsevierViewall">The patient underwent molecular testing for assessment of small deletions, insertions and point mutations in the splice sites and coding regions of the <span class="elsevierStyleItalic">PKD1</span>, <span class="elsevierStyleItalic">PKD2</span> and <span class="elsevierStyleItalic">HNF-1β</span> genes, which detected the disease-causing mutation c.695delG (p.Arg232Profs*33) in exon 3 of the <span class="elsevierStyleItalic">HNF-1β</span> gene. This was subsequently confirmed by Sanger sequencing. We found that the mutation exhibited cosegregation with the disease that run in the family, as the variant identified in the patient turned out to have a maternal origin (affected mother) while the father was not a carrier (healthy). Carrier testing revealed that the sister (healthy) was not a carrier, while the brother (affected) had the mutation.</p><p id="par0050" class="elsevierStylePara elsevierViewall">During the follow-up, the index patient exhibited reduced renal growth, a glomerular filtration rate of approximately 75<span class="elsevierStyleHsp" style=""></span>mL/min/1.73<span class="elsevierStyleHsp" style=""></span>m<span class="elsevierStyleSup">2</span> at 20 months of age, impaired urinary concentrating capacity and hyperparathyroidism and normal urine albumin levels and blood pressure. His younger brother is currently exhibiting a low glomerular filtration rate for age with impaired urinary concentrating capacity.</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: Hernández PR, Molina AG, Pérez AG, Swafiri ST, Carbajo EP. Estudio de hiperecogenicidad renal: del fenotipo al genotipo en la mutación del gen del factor nuclear hepático1β. An Pediatr (Barc). 2019;90:315–316.</p>" ] ] "multimedia" => array:2 [ 0 => array:7 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1761 "Ancho" => 1500 "Tamanyo" => 146499 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Renal hyperechogenicity and cyst.</p>" ] ] 1 => array:8 [ "identificador" => "tbl0005" "etiqueta" => "Table 1" "tipo" => "MULTIMEDIATABLA" "mostrarFloat" => true "mostrarDisplay" => false "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at1" "detalle" => "Table " "rol" => "short" ] ] "tabla" => array:1 [ "tablatextoimagen" => array:1 [ 0 => array:2 [ "tabla" => array:1 [ 0 => """ <table border="0" frame="\n \t\t\t\t\tvoid\n \t\t\t\t" class=""><thead title="thead"><tr title="table-row"><th class="td" title="table-head " align="left" valign="top" scope="col" style="border-bottom: 2px solid black">Genetic \t\t\t\t\t\t\n \t\t\t\t</th><th class="td" title="table-head " align="left" valign="top" scope="col" style="border-bottom: 2px solid black">Acquired \t\t\t\t\t\t\n \t\t\t\t</th></tr></thead><tbody title="tbody"><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top"><span class="elsevierStyleItalic">Autosomal recessive polycystic kidney disease (ARPKD)</span> \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Multicystic dysplastic kidney \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top"><span class="elsevierStyleItalic">Autosomal dominant polycystic kidney disease (ADPKD)</span> \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Multicystic dysplastic kidney associated to congenital ureteral obstruction \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top"><span class="elsevierStyleItalic">Nephronophthisis</span> \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Simple renal cysts \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top"><span class="elsevierStyleItalic">Autosomal dominant tubulointerstitial kidney disease:</span> \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Multilocular renal cysts \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top"><span class="elsevierStyleHsp" style=""></span>Mutation in <span class="elsevierStyleItalic">UMOD</span> gene \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Renal cysts associated to chronic hypokalaemia \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top"><span class="elsevierStyleHsp" style=""></span>Mutation in <span class="elsevierStyleItalic">MUC1</span> gene \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Acquired cystic kidney disease \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top"><span class="elsevierStyleHsp" style=""></span>Mutation in <span class="elsevierStyleItalic">REN</span> gene \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="" valign="top"> \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top"><span class="elsevierStyleHsp" style=""></span>Mutation in <span class="elsevierStyleItalic">NHF-1β</span> gene (renal cysts and diabetes syndrome) \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="" valign="top"> \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top"><span class="elsevierStyleItalic">Von Hippel-Lindau disease</span> \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="" valign="top"> \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top"><span class="elsevierStyleItalic">Tuberous sclerosis complex</span> \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="" valign="top"> \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top"><span class="elsevierStyleItalic">Renal cysts in polymalformative syndromes</span> \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="" valign="top"> \t\t\t\t\t\t\n \t\t\t\t</td></tr></tbody></table> """ ] "imagenFichero" => array:1 [ 0 => "xTab2022449.png" ] ] ] ] "descripcion" => array:1 [ "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Diseases associated with renal cysts.</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0015" "bibliografiaReferencia" => array:6 [ 0 => array:3 [ "identificador" => "bib0035" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Anomalies of the TCF2 gene are the main cause of fetal bilateral hyperechogenic kidneys" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "S. Decramer" 1 => "O. Parant" 2 => "S. Beaufils" 3 => "S. Clauin" 4 => "C. Guillou" 5 => "S. Kessler" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:5 [ "tituloSerie" => "J Am Soc Nephrol" "fecha" => "2007" "volumen" => "18" "paginaInicial" => "923" "paginaFinal" => "933" ] ] ] ] ] ] 1 => array:3 [ "identificador" => "bib0040" "etiqueta" => "2" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Hyperechogenic kidneys and polyhydramnios associated with <span class="elsevierStyleItalic">HNF1B</span> gene mutation" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:6 [ 0 => "L. Gondra" 1 => "S. Décramer" 2 => "G.E. Chalouhi" 3 => "F. Muller" 4 => "R. Salomon" 5 => "L. Heidet" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:5 [ "tituloSerie" => "Pediatr Nephrol" "fecha" => "2016" "volumen" => "31" "paginaInicial" => "1705" "paginaFinal" => "1708" ] ] ] ] ] ] 2 => array:3 [ "identificador" => "bib0045" "etiqueta" => "3" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Enfermedades quísticas renales" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ 0 => "A. Iceta Lizarraga" 1 => "D. Barajas de Frutos" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:5 [ "tituloSerie" => "Protoc Diagn Ter Pediatr" "fecha" => "2014" "volumen" => "1" "paginaInicial" => "191" "paginaFinal" => "206" ] ] ] ] ] ] 3 => array:3 [ "identificador" => "bib0050" "etiqueta" => "4" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Revisión de la nefropatía tubulointersticial autosómica dominante" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:5 [ 0 => "N. Ayasreh Fierro" 1 => "R. Miquel Rodríguez" 2 => "A. matamala Gastrón" 3 => "E. Ars Criach" 4 => "R. Torra Balcells" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:5 [ "tituloSerie" => "Nefrologia" "fecha" => "2017" "volumen" => "37" "paginaInicial" => "235" "paginaFinal" => "243" ] ] ] ] ] ] 4 => array:3 [ "identificador" => "bib0055" "etiqueta" => "5" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Hepatocyte nuclear factor-1β gene deletions-a common cause of renal disease" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "E.L. Edghill" 1 => "R.A. Oram" 2 => "M. Owens" 3 => "K.L. Stals" 4 => "L.W. Harries" 5 => "A.T. Hattersley" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:5 [ "tituloSerie" => "Nephrol Dial Transplant" "fecha" => "2008" "volumen" => "23" "paginaInicial" => "627" "paginaFinal" => "635" ] ] ] ] ] ] 5 => array:3 [ "identificador" => "bib0060" "etiqueta" => "6" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "L. Heidet" 1 => "S. Decramer" 2 => "A. Pawtowski" 3 => "V. Morinière" 4 => "F. Bandin" 5 => "B. Knebelmann" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:5 [ "tituloSerie" => "J Am Soc Nephrol" "fecha" => "2010" "volumen" => "5" "paginaInicial" => "1079" "paginaFinal" => "1090" ] ] ] ] ] ] ] ] ] ] ] "idiomaDefecto" => "en" "url" => "/23412879/0000009000000005/v1_201905020905/S234128791930050X/v1_201905020905/en/main.assets" "Apartado" => array:4 [ "identificador" => "38181" "tipo" => "SECCION" "en" => array:2 [ "titulo" => "Scientific letters" "idiomaDefecto" => true ] "idiomaDefecto" => "en" ] "PDF" => "https://static.elsevier.es/multimedia/23412879/0000009000000005/v1_201905020905/S234128791930050X/v1_201905020905/en/main.pdf?idApp=UINPBA00005H&text.app=https://analesdepediatria.org/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S234128791930050X?idApp=UINPBA00005H" ]
| Year/Month | Html | Total | |
|---|---|---|---|
| 2024 November | 69 | 18 | 87 |
| 2024 October | 643 | 49 | 692 |
| 2024 September | 557 | 51 | 608 |
| 2024 August | 427 | 67 | 494 |
| 2024 July | 501 | 55 | 556 |
| 2024 June | 291 | 30 | 321 |
| 2024 May | 282 | 31 | 313 |
| 2024 April | 302 | 36 | 338 |
| 2024 March | 268 | 26 | 294 |
| 2024 February | 301 | 26 | 327 |
| 2024 January | 404 | 25 | 429 |
| 2023 December | 244 | 47 | 291 |
| 2023 November | 235 | 35 | 270 |
| 2023 October | 259 | 24 | 283 |
| 2023 September | 215 | 24 | 239 |
| 2023 August | 186 | 14 | 200 |
| 2023 July | 187 | 30 | 217 |
| 2023 June | 205 | 29 | 234 |
| 2023 May | 253 | 19 | 272 |
| 2023 April | 238 | 19 | 257 |
| 2023 March | 277 | 21 | 298 |
| 2023 February | 156 | 22 | 178 |
| 2023 January | 137 | 15 | 152 |
| 2022 December | 185 | 28 | 213 |
| 2022 November | 272 | 35 | 307 |
| 2022 October | 244 | 44 | 288 |
| 2022 September | 244 | 25 | 269 |
| 2022 August | 265 | 56 | 321 |
| 2022 July | 215 | 36 | 251 |
| 2022 June | 211 | 37 | 248 |
| 2022 May | 212 | 34 | 246 |
| 2022 April | 217 | 39 | 256 |
| 2022 March | 226 | 44 | 270 |
| 2022 February | 194 | 23 | 217 |
| 2022 January | 198 | 36 | 234 |
| 2021 December | 209 | 40 | 249 |
| 2021 November | 188 | 37 | 225 |
| 2021 October | 278 | 83 | 361 |
| 2021 September | 169 | 32 | 201 |
| 2021 August | 198 | 48 | 246 |
| 2021 July | 194 | 32 | 226 |
| 2021 June | 178 | 38 | 216 |
| 2021 May | 155 | 40 | 195 |
| 2021 April | 411 | 84 | 495 |
| 2021 March | 227 | 45 | 272 |
| 2021 February | 171 | 24 | 195 |
| 2021 January | 166 | 26 | 192 |
| 2020 December | 153 | 29 | 182 |
| 2020 November | 133 | 20 | 153 |
| 2020 October | 101 | 17 | 118 |
| 2020 September | 124 | 21 | 145 |
| 2020 August | 123 | 5 | 128 |
| 2020 July | 99 | 17 | 116 |
| 2020 June | 84 | 3 | 87 |
| 2020 May | 105 | 20 | 125 |
| 2020 April | 118 | 10 | 128 |
| 2020 March | 98 | 11 | 109 |
| 2020 February | 82 | 13 | 95 |
| 2020 January | 77 | 10 | 87 |
| 2019 December | 87 | 21 | 108 |
| 2019 November | 108 | 13 | 121 |
| 2019 October | 63 | 10 | 73 |
| 2019 September | 65 | 17 | 82 |
| 2019 August | 26 | 13 | 39 |
| 2019 July | 33 | 15 | 48 |
| 2019 June | 61 | 15 | 76 |
| 2019 May | 57 | 18 | 75 |
| 2019 April | 12 | 41 | 53 |
Show all
