Diagnóstico bioquímico del síndrome de Smith-Lemli-Opitz en un paciente con hiperplasia adrenal congénita
Biochemical diagnosis of smith-lemli-opitz syndrome in a patient with congenital adrenal hyperplasia
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"apellidos" => "López López" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "aff0015" ] ] ] ] "afiliaciones" => array:3 [ 0 => array:3 [ "entidad" => "Servicios de Laboratorio. Hospital Materno-Infantil" "etiqueta" => "<span class="elsevierStyleSup">a.</span>" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Hospital Regional Carlos Haya" "etiqueta" => "<span class="elsevierStyleSup">b.</span>" "identificador" => "aff0010" ] 2 => array:3 [ "entidad" => "Departamento de Pediatría. Hospital Materno-Infantil. Málaga" "etiqueta" => "<span class="elsevierStyleSup">c.</span>" "identificador" => "aff0015" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "*." "correspondencia" => "<span class="elsevierStyleItalic"><span class="elsevierStyleBold">Correspondencia</span></span>: Servicio de Laboratorio. Hospital Materno-Infantil. Avda. Arroyo de los Ángeles, s/n. 29011 Málaga." ] ] ] ] "titulosAlternativos" => array:1 [ "en" => array:1 [ "titulo" => "Biochemical diagnosis of smith-lemli-opitz syndrome in a patient with congenital adrenal hyperplasia" ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2000-02-01" "fechaAceptado" => "2000-07-01" "PalabrasClave" => array:2 [ "es" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Palabras clave" "identificador" => "xpalclavsec186486" "palabras" => array:5 [ 0 => "<span class="elsevierStyleItalic">Síndrome de Smith-Lemli-Opitz</span>" 1 => "Colesterol" 2 => "<span class="elsevierStyleItalic">7-Deshidrocolesterol</span>" 3 => "<span class="elsevierStyleItalic">Espectroscopia ultravioleta</span>" 4 => "<span class="elsevierStyleItalic">Hiperplasia adrenal congénita</span>" ] ] ] "en" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Key words" "identificador" => "xpalclavsec186487" "palabras" => array:5 [ 0 => "<span class="elsevierStyleItalic">Smith-Lemli-Opitz syndrome</span>" 1 => "<span class="elsevierStyleItalic">Cholesterol</span>" 2 => "<span class="elsevierStyleItalic">7-dehydrocholesterol</span>" 3 => "<span class="elsevierStyleItalic">Ultraviolet spectroscopy</span>" 4 => "<span class="elsevierStyleItalic">Congenital adrenal hyperplasia</span>" ] ] ] ] "tieneResumen" => true "resumen" => array:2 [ "es" => array:1 [ "resumen" => "<span class="elsevierStyleSectionTitle">Objetivo</span><p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">El síndrome de Smith-Lemli-Opitz es una alteración de herencia autosómica recesiva causada por un fallo de la enzima 7-deshidrocolesterol D7-reductasa, produciendo unos bajos valores séricos de colesterol y la acumulación de su precursor, el 7-deshidrocolesterol. Se presenta el caso de un niño de 3 meses de edad con hiperplasia adrenal congénita y con el diagnóstico clínico previo de dicho síndrome. Se pretende confirmar bioquímicamente el diagnóstico clínico del síndrome de Smith-Lemli-Opitz.</p> <span class="elsevierStyleSectionTitle">Métodos</span><p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Se determinó el 7-deshidrocolesterol en suero por espectroscopia ultravioleta (determinación cualitativa) mediante un método rápido y sencillo, recientemente propuesto, y por cromatografía gaseosa (determinación cuantitativa).</p> <span class="elsevierStyleSectionTitle">Resultados</span><p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">La determinación por espectroscopia ultravioleta revela la presencia en suero del 7-deshidrocolesterol, confirmada posteriormente por cromatografía gaseosa. Así mismo, el paciente presentaba unas concentraciones muy disminuidas de colesterol total.</p> <span class="elsevierStyleSectionTitle">Conclusiones</span><p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">Se expone el caso de un paciente con síndrome de Smith-Lemli-Opitz e hiperplasia adrenal congénita, asociación descrita en muy pocos casos. Los resultados obtenidos indican que el diagnóstico clínico del síndrome de Smith-Lemli-Opitz puede confirmarse bioquímicamente por la medida cualitativa del 7-deshidrocolesterol mediante espectroscopia ultravioleta.</p>" ] "en" => array:1 [ "resumen" => "<span class="elsevierStyleSectionTitle">Background</span><p id="spar0025" class="elsevierStyleSimplePara elsevierViewall">Smith-Lemli-Opitz syndrome is an autosomal recessive disorder caused by 7-dehydrocholesterol D7-reductase deficiency that leads to serum cholesterol deficiency and accumulation of the cholesterol precursor, 7-dehydrocholesterol. We report a three-month-old boy with congenital adrenal hyperplasia and clinical diagnosis of this syndrome. This study was undertaken to confirm biochemically the clinical diagnosis of Smith-Lemli-Opitz syndrome.</p> <span class="elsevierStyleSectionTitle">Methods</span><p id="spar0030" class="elsevierStyleSimplePara elsevierViewall">Serum 7-dehydrocholesterol was determined in serum by ultraviolet spectroscopy (qualitatively) using a recently described simple and rapid method, and by gas chromatography (quantitatively).</p> <span class="elsevierStyleSectionTitle">Results</span><p id="spar0035" class="elsevierStyleSimplePara elsevierViewall">The ultraviolet spectroscopy assay detected serum 7-dehydrocholesterol. This result was confirmed by gas chromatography. Furthermore, the patient showed very low total cholesterol.</p> <span class="elsevierStyleSectionTitle">Conclusions</span><p id="spar0040" class="elsevierStyleSimplePara elsevierViewall">The association between Smith-Lemli-Opitz syndrome and congenital adrenal hyperplasia has been reported in only a few cases. Our results suggest that clinical diagnosis of Smith-Lemli-Opitz syndrome can be biochemically confirmed by qualitative measurement of 7-dehydrocholesterol using ultraviolet spectroscopy.</p>" ] ] "bibliografia" => array:2 [ "titulo" => "Bibliografía" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:31 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "A newly organized syndrome of multiple congenital anomalies" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:3 [ 0 => "D.W. Smith" 1 => "L. 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| año/Mes | Html | Total | |
|---|---|---|---|
| 2024 Noviembre | 17 | 17 | 34 |
| 2024 Octubre | 79 | 60 | 139 |
| 2024 Septiembre | 95 | 49 | 144 |
| 2024 Agosto | 100 | 79 | 179 |
| 2024 Julio | 165 | 47 | 212 |
| 2024 Junio | 173 | 43 | 216 |
| 2024 Mayo | 151 | 63 | 214 |
| 2024 Abril | 89 | 39 | 128 |
| 2024 Marzo | 85 | 41 | 126 |
| 2024 Febrero | 124 | 43 | 167 |
| 2024 Enero | 150 | 34 | 184 |
| 2023 Diciembre | 245 | 29 | 274 |
| 2023 Noviembre | 201 | 27 | 228 |
| 2023 Octubre | 95 | 32 | 127 |
| 2023 Septiembre | 59 | 35 | 94 |
| 2023 Agosto | 53 | 24 | 77 |
| 2023 Julio | 41 | 50 | 91 |
| 2023 Junio | 61 | 28 | 89 |
| 2023 Mayo | 77 | 24 | 101 |
| 2023 Abril | 47 | 21 | 68 |
| 2023 Marzo | 45 | 32 | 77 |
| 2023 Febrero | 29 | 14 | 43 |
| 2023 Enero | 32 | 32 | 64 |
| 2022 Diciembre | 55 | 31 | 86 |
| 2022 Noviembre | 55 | 32 | 87 |
| 2022 Octubre | 48 | 38 | 86 |
| 2022 Septiembre | 24 | 26 | 50 |
| 2022 Agosto | 39 | 61 | 100 |
| 2022 Julio | 22 | 51 | 73 |
| 2022 Junio | 35 | 36 | 71 |
| 2022 Mayo | 32 | 44 | 76 |
| 2022 Abril | 44 | 35 | 79 |
| 2022 Marzo | 56 | 38 | 94 |
| 2022 Febrero | 44 | 30 | 74 |
| 2022 Enero | 57 | 35 | 92 |
| 2021 Diciembre | 43 | 40 | 83 |
| 2021 Noviembre | 43 | 37 | 80 |
| 2021 Octubre | 68 | 51 | 119 |
| 2021 Septiembre | 40 | 46 | 86 |
| 2021 Agosto | 52 | 42 | 94 |
| 2021 Julio | 55 | 29 | 84 |
| 2021 Junio | 70 | 33 | 103 |
| 2021 Mayo | 86 | 54 | 140 |
| 2021 Abril | 187 | 94 | 281 |
| 2021 Marzo | 116 | 43 | 159 |
| 2021 Febrero | 85 | 30 | 115 |
| 2021 Enero | 86 | 41 | 127 |
| 2020 Diciembre | 80 | 34 | 114 |
| 2020 Noviembre | 64 | 16 | 80 |
| 2020 Octubre | 82 | 28 | 110 |
| 2020 Septiembre | 67 | 15 | 82 |
| 2020 Agosto | 90 | 16 | 106 |
| 2020 Julio | 66 | 25 | 91 |
| 2020 Junio | 91 | 22 | 113 |
| 2020 Mayo | 84 | 37 | 121 |
| 2020 Abril | 42 | 10 | 52 |
| 2020 Marzo | 57 | 18 | 75 |
| 2020 Febrero | 76 | 34 | 110 |
| 2020 Enero | 58 | 46 | 104 |
| 2019 Diciembre | 71 | 23 | 94 |
| 2019 Noviembre | 65 | 32 | 97 |
| 2019 Octubre | 65 | 48 | 113 |
| 2019 Septiembre | 32 | 53 | 85 |
| 2019 Agosto | 36 | 27 | 63 |
| 2019 Julio | 38 | 35 | 73 |
| 2019 Junio | 48 | 58 | 106 |
| 2019 Mayo | 108 | 102 | 210 |
| 2019 Abril | 122 | 65 | 187 |
| 2019 Marzo | 45 | 37 | 82 |
| 2019 Febrero | 45 | 23 | 68 |
| 2019 Enero | 24 | 16 | 40 |
| 2018 Diciembre | 31 | 29 | 60 |
| 2018 Noviembre | 71 | 44 | 115 |
| 2018 Octubre | 83 | 19 | 102 |
| 2018 Septiembre | 29 | 16 | 45 |
| 2018 Junio | 1 | 0 | 1 |
| 2018 Mayo | 3 | 0 | 3 |
| 2018 Abril | 18 | 0 | 18 |
| 2018 Marzo | 17 | 0 | 17 |
| 2018 Febrero | 7 | 0 | 7 |
| 2018 Enero | 16 | 0 | 16 |
| 2017 Diciembre | 17 | 0 | 17 |
| 2017 Noviembre | 14 | 0 | 14 |
| 2017 Octubre | 18 | 0 | 18 |
| 2017 Septiembre | 21 | 0 | 21 |
| 2017 Agosto | 18 | 0 | 18 |
| 2017 Julio | 13 | 1 | 14 |
| 2017 Junio | 21 | 77 | 98 |
| 2017 Mayo | 26 | 38 | 64 |
| 2017 Abril | 18 | 80 | 98 |
| 2017 Marzo | 15 | 86 | 101 |
| 2017 Febrero | 15 | 113 | 128 |
| 2017 Enero | 21 | 48 | 69 |
| 2016 Diciembre | 17 | 55 | 72 |
| 2016 Noviembre | 21 | 88 | 109 |
| 2016 Octubre | 32 | 77 | 109 |
| 2016 Septiembre | 44 | 116 | 160 |
| 2016 Agosto | 80 | 61 | 141 |
| 2016 Julio | 48 | 89 | 137 |
| 2016 Abril | 1 | 0 | 1 |
| 2016 Febrero | 2 | 0 | 2 |
| 2015 Diciembre | 4 | 0 | 4 |
| 2015 Julio | 17 | 0 | 17 |
| 2015 Junio | 13 | 0 | 13 |
| 2015 Mayo | 15 | 0 | 15 |
| 2015 Abril | 15 | 0 | 15 |
| 2015 Marzo | 9 | 0 | 9 |
| 2015 Febrero | 11 | 0 | 11 |
| 2015 Enero | 10 | 0 | 10 |
| 2014 Diciembre | 13 | 4 | 17 |
| 2014 Noviembre | 10 | 1 | 11 |
| 2014 Octubre | 9 | 1 | 10 |
| 2014 Septiembre | 15 | 4 | 19 |
| 2014 Agosto | 16 | 2 | 18 |
| 2014 Julio | 11 | 4 | 15 |
| 2014 Junio | 36 | 1 | 37 |
| 2014 Mayo | 36 | 6 | 42 |
| 2014 Abril | 28 | 2 | 30 |
| 2014 Marzo | 25 | 25 | 50 |
| 2014 Febrero | 24 | 21 | 45 |
| 2014 Enero | 23 | 15 | 38 |
| 2013 Diciembre | 18 | 20 | 38 |
| 2013 Noviembre | 17 | 38 | 55 |
| 2013 Octubre | 27 | 44 | 71 |
| 2013 Septiembre | 24 | 36 | 60 |
| 2013 Agosto | 16 | 21 | 37 |
| 2013 Julio | 5 | 10 | 15 |
| 2013 Junio | 5 | 4 | 9 |
| 2013 Mayo | 8 | 5 | 13 |
| 2013 Abril | 5 | 3 | 8 |
| 2013 Marzo | 9 | 2 | 11 |
| 2013 Febrero | 36 | 2 | 38 |
| 2013 Enero | 46 | 0 | 46 |
| 2012 Diciembre | 35 | 1 | 36 |
| 2012 Noviembre | 27 | 3 | 30 |
| 2012 Octubre | 28 | 1 | 29 |
| 2012 Septiembre | 2 | 0 | 2 |
| 2000 Noviembre | 4649 | 0 | 4649 |
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