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"documento" => "article" "crossmark" => 1 "subdocumento" => "fla" "cita" => "Gastroenterol Hepatol. 2021;44:711-8" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "en" => array:13 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Original Article</span>" "titulo" => "Validity and reliability of the health-related questionnaire IBDQ-32 in Mexican patients with inflammatory bowel disease" "tienePdf" => "en" "tieneTextoCompleto" => "en" "tieneResumen" => array:2 [ 0 => "en" 1 => "es" ] "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "711" "paginaFinal" => "718" ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Validez y confiabilidad del cuestionario relacionado con la salud IBDQ-32 en pacientes mexicanos con enfermedad inflamatoria intestinal" ] ] "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" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 4048 "Ancho" => 2843 "Tamanyo" => 402103 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0045" class="elsevierStyleSimplePara elsevierViewall">Histogram of data distribution on the IBDQ-32. (A) Histogram of data distribution on the IBDQ-32. The frequency of patients is displayed as a function of the total score on the IBDQ-32. The area under the curve equals the total frequency of patients. (B) Histogram of data distribution on the Digestive subscore. The frequency of patients is displayed as a function of the Digestive subscore. The area under the curve equals the total frequency of patients. (C) Histogram of data distribution on Systemic subscore. The frequency of patients is displayed as a function of the Systemic subscore. The area under the curve equals the total frequency of patients. (D) Histogram of data distribution on Emotional subscore. The frequency of patients is displayed as a function of the Emotional subscore. The area under the curve equals the total frequency of patients. (E) Histogram of data distribution on Social subscore. The frequency of patients is displayed as a function of the Social subscore. The area under the curve equals the total frequency of patients.</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Mónica R. Zavala-Solares, Lucero Salazar-Salas, Jesus K. Yamamoto-Furusho" "autores" => array:3 [ 0 => array:2 [ "nombre" => "Mónica R." "apellidos" => "Zavala-Solares" ] 1 => array:2 [ "nombre" => "Lucero" "apellidos" => "Salazar-Salas" ] 2 => array:2 [ "nombre" => "Jesus K." "apellidos" => "Yamamoto-Furusho" ] ] ] ] ] "idiomaDefecto" => "en" "Traduccion" => array:1 [ "en" => array:9 [ "pii" => "S0210570521001163" "doi" => "10.1016/j.gastrohep.2021.03.002" "estado" => "S300" "subdocumento" => "" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "idiomaDefecto" => "en" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0210570521001163?idApp=UINPBA00004N" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2444382421002182?idApp=UINPBA00004N" "url" => "/24443824/0000004400000010/v1_202112030713/S2444382421002182/v1_202112030713/en/main.assets" ] "en" => array:12 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Scientific letter</span>" "titulo" => "Intrahepatic cholestasis, sometimes benign recurrent" "tieneTextoCompleto" => true "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "719" "paginaFinal" => "720" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "Ruth García-Romero, Laura Morlan-Herrador, Ignacio Ros-Arnal, María Dolores Miramar, Cristina Molera-Busons" "autores" => array:5 [ 0 => array:4 [ "nombre" => "Ruth" "apellidos" => "García-Romero" "email" => array:1 [ 0 => "ruthgarciaromero@yahoo.es" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "*" "identificador" => "cor0005" ] ] ] 1 => array:3 [ "nombre" => "Laura" "apellidos" => "Morlan-Herrador" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 2 => array:3 [ "nombre" => "Ignacio" "apellidos" => "Ros-Arnal" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 3 => array:3 [ "nombre" => "María Dolores" "apellidos" => "Miramar" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 4 => array:3 [ "nombre" => "Cristina" "apellidos" => "Molera-Busons" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "aff0015" ] ] ] ] "afiliaciones" => array:3 [ 0 => array:3 [ "entidad" => "Servicio de Gastroenterología y Nutrición Pediátrica, Hospital Infantil Miguel Servet, Zaragoza, Spain" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Servicio de Genética, Hospital Infantil Miguel Servet, Zaragoza, Spain" "etiqueta" => "b" "identificador" => "aff0010" ] 2 => array:3 [ "entidad" => "Servicio de Gastroenterología, Hepatología y Nutrición Pediátrica, Hospital Sant Joan de Déu, Barcelona, Spain" "etiqueta" => "c" "identificador" => "aff0015" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Colestasis intrahepática. A veces puede ser benigna y recurrente" ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">We present a case of atypical hepatic cholestasis in a paediatric patient. A previously healthy five-year-old male, of Romani ethnicity, who came to the emergency department due to the appearance of generalised itching and jaundice over the previous four days, together with acholia and choluria. He had had chickenpox some 10 days earlier. There were no previous similar personal or family episodes, or previous illnesses or surgical interventions.</p><p id="par0010" class="elsevierStylePara elsevierViewall">The physical examination revealed cutaneous and conjunctival jaundice, as well as chickenpox lesions in resolution phase. The rest of the physical examination was normal.</p><p id="par0015" class="elsevierStylePara elsevierViewall">Given the symptoms, a blood test was performed in the emergency department in which a cholestatic pattern was observed with total bilirubin of 8.63 mg/dl (normal 0.3–1.2 mg/dl), direct bilirubin of 5.61 mg/dl (normal 0–0.2 mg/dl), alkaline phosphatase 739 U/l (normal 42–362 U/l), GGT 20 U/l (normal 3–22 U/l), GOT 71 U/l (normal 0–50 U/l), GPT 101 U/l (normal 0–50 U/l) and LDH 268 U/l (normal 0–248 U/l). A haemogram, haemostasis test and a study of pancreatic and renal function were performed with normal results, as well as serology tests. The patient was referred to a paediatric gastroenterologist and a hepatobiliary ultrasound was requested in which mild diffuse hepatomegaly was found, with normal echogenicity, without focal lesions, the rest of the abdominal ultrasound examination being normal.</p><p id="par0020" class="elsevierStylePara elsevierViewall">Treatment with ursodeoxycholic acid and colestyramine resin was prescribed. Given the biochemical pattern of cholestasis and the normality of the GGT figures, a genetic study was requested for type 1 familial cholestasis. Progressive improvement of the symptoms was observed with a complete normalisation of cholestatic parameters in less than six weeks. As a result, no more complementary studies were carried out for the time being.</p><p id="par0025" class="elsevierStylePara elsevierViewall">The genetic study showed a pathogenic mutation in p.Thr456Met in position 1367 of exon 12 of the ATP8B1 gene, and a variant of uncertain clinical significance, probably pathological, p.Asn1029Lys in position 3087 of exon 24 of the ATP8B1 gene, both present in heterozygosity. These mutations are diagnostic of benign recurrent intrahepatic cholestasis (BRIC), which is an atypical cause of cholestasis.</p><p id="par0030" class="elsevierStylePara elsevierViewall">It was first described in 1959 by Summerskill and Wlashe,<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> and is characterised by self-limited and recurrent episodes of severe itching and jaundice that can last from weeks to several months, sometimes triggered by viral infections. The average duration is around three months for each episode, and it can remain asymptomatic for highly variable periods, ranging from months to years.<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a></p><p id="par0035" class="elsevierStylePara elsevierViewall">Its exact prevalence remains unknown, but the estimated incidence is approximately 1 in 50,000 to 100,000 people worldwide.<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a> It is an autosomal recessive disease with incomplete penetrance, of which two forms have been described. Type 1 BRIC is secondary to a mutation in the ATP8B1 gene, located on chromosome 18 (18q21-q22), which coincides with the genetic result of the patient presented. This gene belongs to the ATP gene family (ATPase superfamily) and encodes a transporter protein (aminophospholipid transferase) that participates in the translocation of aminophospholipids at the hepatocyte level and contributes to maintaining an adequate balance of bile acids in the bile. If defective, it produces a decrease in the secretion of bile salts.</p><p id="par0040" class="elsevierStylePara elsevierViewall">Type 2 BRIC is caused by a mutation in the ABCB11 gene, located on chromosome 2 (2q24), which belongs to the ABC (ATPBinding cassette transporters) and ATP (ATPase superfamily) gene families. This gene encodes a bile salt-exporting protein (bile salt export pump, BSEP) that mobilises bile salts from hepatocytes.</p><p id="par0045" class="elsevierStylePara elsevierViewall">Unlike progressive familial intrahepatic cholestasis (PFIC-1), whose altered gene is the same as in benign recurrent intrahepatic cholestasis, penetrance is variable. It occurs in the first decade of life, in patients with normal psychomotor and physical development, and it is usually benign, without progression to fibrosis or liver failure, or systemic involvement. The pathophysiology of this condition is not clear, and today the pathophysiological mechanisms are unknown, although some triggers such as viral infections have been described.<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a></p><p id="par0050" class="elsevierStylePara elsevierViewall">During the study of these patients, serological studies should be included to exclude causes of acute and chronic viral hepatitis, and medications that could cause cholestasis should be suspended. Imaging studies are also necessary to exclude obstructive biliary pathologies. In adolescents or adults, endoscopic retrograde cholangiography can be used to exclude sclerosing cholangitis or other causes of biliary tree abnormalities. Liver biopsy in the literature reviewed shows centrilobular cholestasis without liver lesions, although inflammatory infiltrates can occasionally be observed. In our patient, a biopsy was not performed since the abnormal test results improved in a few weeks.</p><p id="par0055" class="elsevierStylePara elsevierViewall">Currently, there is no specific treatment to prevent or reduce the duration and severity of episodes. Treatment is based on symptom relief, until the episode resolves spontaneously. Cholestyramine and ursodeoxycholic acid have been used in the treatment of these patients for the relief of symptoms, with good response.<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a> Our patient has not experienced new episodes of cholestasis in the two years following his diagnosis.</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: García-Romero R, Morlan-Herrador L, Ros-Arnal I, Miramar MD, Molera-Busons C. Colestasis intrahepática. A veces puede ser benigna y recurrente. Gastroenterol Hepatol. 2021;44:719–720.</p>" ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:5 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Benign recurrent intrahepatic “obstructive” jaundice" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ 0 => "W.H. Summerskill" 1 => "J.M. Wlashe" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:5 [ "tituloSerie" => "Lancet" "fecha" => "1959" "volumen" => "2" "paginaInicial" => "686" "paginaFinal" => "690" ] ] ] ] ] ] 1 => array:3 [ "identificador" => "bib0010" "etiqueta" => "2" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Familial cholestasis: progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:6 [ 0 => "W.L. Van der Woerd" 1 => "S.W. Van Mil" 2 => "J.M. Stapelbroek" 3 => "L.W. Klomp" 4 => "S.F. van de Graaf" 5 => "R.H. Houwen" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1016/j.bpg.2010.07.010" "Revista" => array:6 [ "tituloSerie" => "Best Pract Res Clin Gastroenterol" "fecha" => "2010" "volumen" => "24" "paginaInicial" => "541" "paginaFinal" => "553" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/20955958" "web" => "Medline" ] ] ] ] ] ] ] ] 2 => array:3 [ "identificador" => "bib0015" "etiqueta" => "3" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Nonsense variant of <span class="elsevierStyleItalic">ATP8B1</span> gene in heterozygosis and benign recurrent intrahepatic cholestasis: a case report and review of literature" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "M. Piazzolla" 1 => "N. Castellaneta" 2 => "A. Novelli" 3 => "E. Agolini" 4 => "D. Cocciadiferro" 5 => "L. Resta" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.4254/wjh.v12.i2.64" "Revista" => array:6 [ "tituloSerie" => "World J Hepatol" "fecha" => "2020" "volumen" => "12" "paginaInicial" => "64" "paginaFinal" => "71" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/32184942" "web" => "Medline" ] ] ] ] ] ] ] ] 3 => array:3 [ "identificador" => "bib0020" "etiqueta" => "4" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Benign recurrent intrahepatic cholestasis" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ 0 => "V.A. Luketic" 1 => "M.L. Shiffman" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1016/S1089-3261(03)00133-8" "Revista" => array:6 [ "tituloSerie" => "Clin Liver Dis" "fecha" => "2004" "volumen" => "8" "paginaInicial" => "133" "paginaFinal" => "149" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/15062197" "web" => "Medline" ] ] ] ] ] ] ] ] 4 => array:3 [ "identificador" => "bib0025" "etiqueta" => "5" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "El tratamiento con ácido ursodexosicólico parece acortar el período de colestasis en dos pacientes con colestasis intrahepática benigna" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:6 [ 0 => "I. Nicolás" 1 => "J. Pons" 2 => "A. Vargas" 3 => "F. Gallardo" 4 => "A. Albaladejo" 5 => "J.M. Nicolás" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:5 [ "tituloSerie" => "J Gastroenterol Hepatol" "fecha" => "2003" "volumen" => "26" "paginaInicial" => "421" "paginaFinal" => "423" ] ] ] ] ] ] ] ] ] ] ] "idiomaDefecto" => "en" "url" => "/24443824/0000004400000010/v1_202112030713/S2444382421002145/v1_202112030713/en/main.assets" "Apartado" => array:4 [ "identificador" => "77930" "tipo" => "SECCION" "en" => array:2 [ "titulo" => "Scientific letter" "idiomaDefecto" => true ] "idiomaDefecto" => "en" ] "PDF" => "https://static.elsevier.es/multimedia/24443824/0000004400000010/v1_202112030713/S2444382421002145/v1_202112030713/en/main.pdf?idApp=UINPBA00004N&text.app=https://www.elsevier.es/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2444382421002145?idApp=UINPBA00004N" ]
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2023 October | 1 | 0 | 1 |
2023 August | 1 | 0 | 1 |
2023 May | 1 | 0 | 1 |
2023 April | 6 | 0 | 6 |
2023 February | 1 | 0 | 1 |
2023 January | 1 | 0 | 1 |
2022 December | 1 | 0 | 1 |
2022 October | 1 | 0 | 1 |
2022 March | 2 | 0 | 2 |
2021 December | 1 | 0 | 1 |