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"documento" => "simple-article" "crossmark" => 1 "subdocumento" => "cor" "cita" => "Med Clin. 2023;160:368-70" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "en" => array:11 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Letter to the Editor</span>" "titulo" => "Dopamine-secreting familial paraganglioma syndrome due to SDHB mutation" "tienePdf" => "en" "tieneTextoCompleto" => "en" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "368" "paginaFinal" => "370" ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Síndrome de paraganglioma familiar secretor de dopamina por mutación de SDHB" ] ] "contieneTextoCompleto" => array:1 [ "en" => true ] "contienePdf" => array:1 [ "en" => true ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:8 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 873 "Ancho" => 1408 "Tamanyo" => 105547 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0065" "detalle" => "Figure " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">(A) CT angiography of the supra-aortic trunks. A mass (arrows) corresponding to a giant 5<span class="elsevierStyleHsp" style=""></span>cm Shamblin class III right carotid paraganglioma can be observed. (B) Arteriography of bilateral external carotid artery. An intense and early pathological staining in relation to carotid glomus can be observed at the level of the bifurcation (*).</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Ángel López Montalbán, Víctor José Simón Frapolli, María José Picón César" "autores" => array:3 [ 0 => array:2 [ "nombre" => "Ángel" "apellidos" => "López Montalbán" ] 1 => array:2 [ "nombre" => "Víctor José" "apellidos" => "Simón Frapolli" ] 2 => array:2 [ "nombre" => "María José" "apellidos" => "Picón César" ] ] ] ] ] "idiomaDefecto" => "en" "Traduccion" => array:1 [ "es" => array:9 [ "pii" => "S0025775322006686" "doi" => "10.1016/j.medcli.2022.11.015" "estado" => "S300" "subdocumento" => "" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "idiomaDefecto" => "es" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0025775322006686?idApp=UINPBA00004N" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2387020623001341?idApp=UINPBA00004N" "url" => "/23870206/0000016000000008/v1_202305031634/S2387020623001341/v1_202305031634/en/main.assets" ] "en" => array:15 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Letter to the Editor</span>" "titulo" => "Neonatal diabetes with response to very low doses of sulfonylureas after 47 years of diagnosis" "tieneTextoCompleto" => true "saludo" => "Dear Editor:" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "370" "paginaFinal" => "371" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "Antonio Moreno Tirado, Florentino del Val Zaballos" "autores" => array:2 [ 0 => array:4 [ "nombre" => "Antonio" "apellidos" => "Moreno Tirado" "email" => array:1 [ 0 => "amoti94@hotmail.com" ] "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 1 => array:2 [ "nombre" => "Florentino" "apellidos" => "del Val Zaballos" ] ] "afiliaciones" => array:1 [ 0 => array:2 [ "entidad" => "Hospital General La Mancha Centro, Alcázar de San Juan, Ciudad Real, Spain" "identificador" => "aff0005" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Diabetes neonatal con respuesta a dosis muy bajas de sulfonilurea tras 47 años de diagnóstico" ] ] "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" => 1389 "Ancho" => 3167 "Tamanyo" => 455232 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0040" "detalle" => "Fig. " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Comparison between AGP reports during insulin (left) and glibenclamide (right) treatment.</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Neonatal or congenital diabetes represents a small fraction of patients with diabetes mellitus (less than 5%). It should be suspected in the presence of hyperglycaemia in the first 6 months of life. In these cases, a genetic study should be carried out, as a monogenic underlying cause is present in up to 80%–85% of the cases.<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">The mutation in the <span class="elsevierStyleItalic">KCNJ11</span> gene encoding the Kir 6.2 subunit of adenosine triphosphate-sensitive potassium channel (K<span class="elsevierStyleInf">ATP</span>) of cells β has been described as the most frequent cause of permanent neonatal diabetes.<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a></p><p id="par0015" class="elsevierStylePara elsevierViewall">Genetic diagnosis is very important as it may have an impact on treatment. Cases secondary to K<span class="elsevierStyleInf">ATP</span> mutations can be treated with sulfonylurea drugs, thereby obtaining good glycaemic control without the need for insulin. This occurs because sulfonylureas bind to the sulfonylurea receptor SUR1 subunit and close the K<span class="elsevierStyleInf">ATP</span> channel, allowing the membrane to depolarise and cell functionality to be restored β promoting insulin production in response to glucose.<a class="elsevierStyleCrossRefs" href="#bib0015"><span class="elsevierStyleSup">3,4</span></a></p><p id="par0020" class="elsevierStylePara elsevierViewall">Neonatal diabetes associated with <span class="elsevierStyleItalic">KCNJ11</span> gene mutation is also associated with a possible delay in maturation and seizures (in 20%–30% of individuals), constituting the DEND syndrome, since the K<span class="elsevierStyleInf">ATP</span> channels are also present in the brain.<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a></p><p id="par0025" class="elsevierStylePara elsevierViewall">We present the case of a 46-year-old male patient weighing 65<span class="elsevierStyleHsp" style=""></span>kg, with a personal history of psychomotor retardation attributed to childhood cerebral palsy secondary to cerebral anoxia, spastic tetraparesis and epileptic seizures, who was diagnosed with type 1 diabetes mellitus at 3 months of age, receiving treatment with insulin ever since. He was currently undergoing treatment with basal bolus insulin (degludec 24 units) and a correction regimen (insulin aspart), with acceptable glycaemic control (times in range: 64% on target, 0% low and very low, 33% high and 3% very high).</p><p id="par0030" class="elsevierStylePara elsevierViewall">He was referred to endocrinology outpatients to resume follow-up, which until then had been taken care of by his GP. Due to the history of psychomotor retardation and early diagnosis of diabetes mellitus, a genetic study was requested, and the results showed a heterozygous pathogenic variant in exon 1 of the <span class="elsevierStyleItalic">KCNJ11 p.Glu179Ala</span> gene. This established the diagnosis of permanent neonatal diabetes, which due to the association with epilepsy and psychomotor retardation constituted the DEND syndrome.</p><p id="par0035" class="elsevierStylePara elsevierViewall">After the diagnosis, it was decided to withdraw the insulin and gradually introduce glibenclamide treatment. Due to hypoglycaemic episodes, the dose had to be reduced until currently he is receiving 1875<span class="elsevierStyleHsp" style=""></span>mg of glibenclamide per day divided into 2 doses, one of 1.25<span class="elsevierStyleHsp" style=""></span>mg at breakfast and the other of 0.625<span class="elsevierStyleHsp" style=""></span>mg at dinner, which is a dose of less than 0.0375<span class="elsevierStyleHsp" style=""></span>mg/kg/day. This has obtained good glycaemic control and is an improvement on the previous treatment with insulin (as can be seen in <a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>, where the times in range during treatment with insulin and glibenclamide can be compared).</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0040" class="elsevierStylePara elsevierViewall">There are multiple mutations in the <span class="elsevierStyleItalic">KCNJ11</span> gene; in our case our attention has been drawn to the excellent glycaemic control maintained with very low doses of sulfonylurea and after a long period of treatment with insulin, which could be secondary to the pathogenic variant found in heterozygosity in exon 1 of the <span class="elsevierStyleItalic">KCNJ11 p.Glu179Ala</span> gene. Therefore, we can conclude that the duration of diabetes should not be a contraindication for the transition from insulin to sulfonylurea and that the dose will depend on the mutation subtype, since usually the required dose is between 0.5−1<span class="elsevierStyleHsp" style=""></span>mg/kg/day and in the case of our patient it is much lower.</p><p id="par0045" class="elsevierStylePara elsevierViewall">After the presentation of this clinical case, we consider that it is necessary to reconsider the classification of diabetes when a patient is first referred to our clinics, investigating the family history and the form and age of onset of diabetes. This is because changes in the diagnosis can make us change the treatment, obtaining benefits for the patient.</p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Ethical considerations</span><p id="par0050" class="elsevierStylePara elsevierViewall">The authors declare that they have followed the protocols established by their respective health centres to access the data from the medical records in order to be able to carry out this type of study to aid research/dissemination in the scientific community. However, no patient data appears in this article.</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Funding</span><p id="par0055" class="elsevierStylePara elsevierViewall">we have not received funding in relation to this article.</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Conflict of interests</span><p id="par0060" class="elsevierStylePara elsevierViewall">The authors have no conflict of interest to declare in relation to this article.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:4 [ 0 => array:2 [ "identificador" => "sec0005" "titulo" => "Ethical considerations" ] 1 => array:2 [ "identificador" => "sec0010" "titulo" => "Funding" ] 2 => array:2 [ "identificador" => "sec0015" "titulo" => "Conflict of interests" ] 3 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "multimedia" => array:1 [ 0 => array:8 [ "identificador" => "fig0005" "etiqueta" => "Fig. 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1389 "Ancho" => 3167 "Tamanyo" => 455232 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0040" "detalle" => "Fig. " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Comparison between AGP reports during insulin (left) and glibenclamide (right) treatment.</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:1 [ "titulo" => "Standards of Medical Care in Diabetes—2021" ] ] "host" => array:2 [ 0 => array:2 [ "doi" => "10.2337/dc21-Sint" "Revista" => array:6 [ "tituloSerie" => "Diabetes Care." "fecha" => "2020" "volumen" => "44" "paginaInicial" => "S1" "paginaFinal" => "S2" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/33298409" "web" => "Medline" ] ] ] ] 1 => array:2 [ "doi" => "10.2337/dc21-Sint" "WWW" => array:1 [ "link" => "ADA-Standards-of-Medical-Care-Diabetes-Care-2021.pdf" ] ] ] ] ] ] 1 => array:3 [ "identificador" => "bib0010" "etiqueta" => "2" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Neonatal diabetes due to potassium channel mutation: response to sulfonylurea according to the genotype" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:6 [ 0 => "L. Garcin" 1 => "V. Mericq" 2 => "A.-L. Fauret-Amsellem" 3 => "H. Cave" 4 => "M. Polak" 5 => "J. Beltrand" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1111/pedi.13041" "Revista" => array:7 [ "tituloSerie" => "Pediatr Diabetes." 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"fecha" => "2020" "volumen" => "13" "paginaInicial" => "355" "paginaFinal" => "364" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/32104032" "web" => "Medline" ] ] ] ] ] ] ] ] ] ] ] ] ] "idiomaDefecto" => "en" "url" => "/23870206/0000016000000008/v1_202305031634/S2387020623001328/v1_202305031634/en/main.assets" "Apartado" => array:4 [ "identificador" => "43309" "tipo" => "SECCION" "en" => array:2 [ "titulo" => "Letters to the Editor" "idiomaDefecto" => true ] "idiomaDefecto" => "en" ] "PDF" => "https://static.elsevier.es/multimedia/23870206/0000016000000008/v1_202305031634/S2387020623001328/v1_202305031634/en/main.pdf?idApp=UINPBA00004N&text.app=https://www.elsevier.es/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2387020623001328?idApp=UINPBA00004N" ]
