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Sierra-Poyatos, T. Gavela-Pérez, M. Blanco-Rodríguez, L. Soriano-Guillén" "autores" => array:4 [ 0 => array:3 [ "nombre" => "R." "apellidos" => "Sierra-Poyatos" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 1 => array:3 [ "nombre" => "T." "apellidos" => "Gavela-Pérez" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 2 => array:3 [ "nombre" => "M." "apellidos" => "Blanco-Rodríguez" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 3 => array:4 [ "nombre" => "L." "apellidos" => "Soriano-Guillén" "email" => array:2 [ 0 => "lsoriano@fjd.es" 1 => "leansor4@hotmail.com" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] ] "afiliaciones" => array:2 [ 0 => array:3 [ "entidad" => "Servicio de Endocrinología y Nutrición, Instituto de Investigación Sanitaria Fundación Jiménez Díaz, Universidad Autónoma de Madrid, Madrid, Spain" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Servicio de Pediatría, Instituto de Investigación Sanitaria Fundación Jiménez Díaz, Universidad Autónoma de Madrid, Madrid, Spain" "etiqueta" => "b" "identificador" => "aff0010" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Distensión abdominal y estancamiento ponderoestatural como forma de presentación de diferentes tipos de glucogenosis" ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Glycogen storage diseases comprise a heterogeneous group of rare hereditary disorders with an approximate incidence of one case per 20,000 live births a year, and are caused by genetic defects in proteins responsible for glycogen synthesis and storage. Several types of glycogen storage diseases have been described that are caused by different genetic changes and whose clinical expression is diverse, with predominance of hepatic and/or muscular involvement.<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">1</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">Despite the low prevalence of glycogen storage diseases in everyday paediatric practice, we present two illustrative clinical cases of patients diagnosed with different forms of glycogen storage disease:</p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Clinical case 1</span><p id="par0015" class="elsevierStylePara elsevierViewall">Boy aged 9 months referred to the paediatrics clinic for evaluation of progressive abdominal swelling. The parents were not consanguineous and had no relevant medical history. There had been a progressive decrease in the weight and length percentiles of the patient from birth to the time of the evaluation, while his psychomotor development was normal. The patient had been exclusively breastfed on demand in the first two months of life, and was subsequently fed artificial formula, with frequent feedings at two to three hour intervals with no breaks at night. Physical examination revealed a weight of 8<span class="elsevierStyleHsp" style=""></span>kg (3rd–10th percentile), height of 67<span class="elsevierStyleHsp" style=""></span>cm (3rd–10th percentile), Waterlow height-for-age of 94.3%, weight-for-height <span class="elsevierStyleItalic">z</span>-score of −0.44 (WHO standards), and marked abdominal swelling with hepatomegaly of 9<span class="elsevierStyleHsp" style=""></span>cm. These findings led to performance of an abdominal ultrasound scan, which revealed uniform hepatomegaly, and a chemistry panel with the following key findings: AST, 1071<span class="elsevierStyleHsp" style=""></span>U/L (normal range [NR], 0–34); ALT, 573<span class="elsevierStyleHsp" style=""></span>U/L (NR, 10–49); glucose 23<span class="elsevierStyleHsp" style=""></span>mg/dL (NR, 70–100); and triglycerides, 772<span class="elsevierStyleHsp" style=""></span>mg/dL (NR, <110). The patient did not respond to the glucagon stimulation test, with a glucose level before stimulation of 38<span class="elsevierStyleHsp" style=""></span>mg/dL, followed by 40<span class="elsevierStyleHsp" style=""></span>mg/dL 30<span class="elsevierStyleHsp" style=""></span>min after glucagon administration, with no hyperlactacidaemia. Genetic testing was performed due to suspicion of glycogen storage disease, identifying a defect in the α subunit of phosphorylase kinase, which confirmed the diagnosis of glycogen storage disease type IXa. The patient required continuous nocturnal gastric feeding until age 5 years, when the family succeeded in achieving adequate metabolic control.</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Clinical case 2</span><p id="par0020" class="elsevierStylePara elsevierViewall">Girl aged 19 months referred to the paediatrics clinic for failure to thrive between 15 and 18 months of life. The parents were not consanguineous, were originally from Bangladesh, and had no relevant medical history. The patient had a varied diet adequate for her age, and she continued to breastfeed on demand. Her psychomotor development was normal. Physical examination revealed a weight of 9.045<span class="elsevierStyleHsp" style=""></span>kg (3rd–10th percentile), height of 77<span class="elsevierStyleHsp" style=""></span>cm (3rd–10th percentile), Waterlow height-for-age of 95%, weight-for-height <span class="elsevierStyleItalic">z</span>-score of −0.73 SDS (WHO standards), and marked abdominal swelling with hepatomegaly of 8<span class="elsevierStyleHsp" style=""></span>cm. The abdominal ultrasound scan evinced a uniform hepatomegaly. The salient findings of the chemistry panel were AST, 1858<span class="elsevierStyleHsp" style=""></span>U/L; ALT, 1029<span class="elsevierStyleHsp" style=""></span>U/L; glucose, 56<span class="elsevierStyleHsp" style=""></span>mg/dL; and triglycerides, 257<span class="elsevierStyleHsp" style=""></span>mg/dL. In the glucagon test, the glucose level before administration of glucagon was 28<span class="elsevierStyleHsp" style=""></span>mg/dL, and at 30<span class="elsevierStyleHsp" style=""></span>min it was 40<span class="elsevierStyleHsp" style=""></span>mg/dL without hyperlactacidaemia. Genetic testing was requested for suspected glycogen storage disease, which identified amylo-1,6-glucosidase deficiency, leading to diagnosis of type IIIa glycogen storage disease. She required continuous nocturnal gastric feeding for a period of two weeks. Subsequently, thanks to extensive family involvement, the patient achieved adequate metabolic control with feedings at 4<span class="elsevierStyleHsp" style=""></span>h intervals in the daytime, and two cornstarch feedings during the night.</p><p id="par0025" class="elsevierStylePara elsevierViewall">The presence of progressive abdominal swelling in an infant requires ruling out hepatomegaly, among other conditions. In some cases, considerable liver enlargement that can reach as far as the iliac crest is difficult to feel with palpation and may go unnoticed,<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">2</span></a> as described in the two cases.</p><p id="par0030" class="elsevierStylePara elsevierViewall">A differential diagnosis of the multiple aetiologies of hepatomegaly can be performed by history taking, physical examination and diagnostic tests.<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">2</span></a> In the cases presented here, in addition to hepatomegaly and the marked abdominal swelling, the failure to thrive and the presence of hypertransaminasaemia, hyperlipidaemia and hypoglycaemia with abnormal results in the glucagon test led us to suspect a diagnosis of glycogen storage disease.<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">3</span></a></p><p id="par0035" class="elsevierStylePara elsevierViewall">Glycogen storage disease type III is caused by a deficiency of amylo-1,6-glucosidase, also known as glycogen debranching enzyme, an enzyme involved in glycogenolysis whose deficiency leads to accumulation of limit dextrins. In 85% of cases, this deficiency affects the liver and muscle tissues (subtype IIIa).<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">4</span></a> Glycogen storage disease type IX results from a defect in the activation of phosphorylase kinase, which is also involved in glycogenolysis. Different mutations may occur in the genes of each of the subunits that compose the enzyme (α, ß, γ, δ) with variable presence in different tissues. X-linked glycogen storage disease type IXb (XLG) is the most frequent form and only involves the liver.<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">5</span></a></p><p id="par0040" class="elsevierStylePara elsevierViewall">The main goal of treatment is to prevent hypoglycaemia. This requires avoiding prolonged fasting periods by the frequent intake of slow-release carbohydrates throughout the day, and in some cases, especially in infants, nocturnal gastric feedings.<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">6</span></a></p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:3 [ 0 => array:2 [ "identificador" => "sec0005" "titulo" => "Clinical case 1" ] 1 => array:2 [ "identificador" => "sec0010" "titulo" => "Clinical case 2" ] 2 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Sierra-Poyatos R, Gavela-Pérez T, Blanco-Rodríguez M, Soriano-Guillén L. Distensión abdominal y estancamiento ponderoestatural como forma de presentación de diferentes tipos de glucogenosis. An Pediatr (Barc). 2016;84:288–289.</p>" ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:6 [ 0 => array:3 [ "identificador" => "bib0035" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Glucogenosis" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:1 [ 0 => "A. Cabral" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "LibroEditado" => array:4 [ "titulo" => "Diagnóstico y tratamiento de las enfermedades metabólicas hereditarias" "paginaInicial" => "161" "paginaFinal" => "172" "serieFecha" => "2001" ] ] ] ] ] ] 1 => array:3 [ "identificador" => "bib0040" "etiqueta" => "2" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Hepatomegaly in neonates and children" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ 0 => "A.D. 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Year/Month | Html | Total | |
---|---|---|---|
2024 November | 9 | 8 | 17 |
2024 October | 35 | 31 | 66 |
2024 September | 46 | 31 | 77 |
2024 August | 61 | 49 | 110 |
2024 July | 43 | 19 | 62 |
2024 June | 60 | 32 | 92 |
2024 May | 62 | 39 | 101 |
2024 April | 40 | 35 | 75 |
2024 March | 47 | 19 | 66 |
2024 February | 45 | 31 | 76 |
2024 January | 49 | 19 | 68 |
2023 December | 59 | 29 | 88 |
2023 November | 56 | 31 | 87 |
2023 October | 57 | 50 | 107 |
2023 September | 37 | 21 | 58 |
2023 August | 36 | 15 | 51 |
2023 July | 35 | 25 | 60 |
2023 June | 40 | 27 | 67 |
2023 May | 56 | 22 | 78 |
2023 April | 31 | 11 | 42 |
2023 March | 47 | 19 | 66 |
2023 February | 43 | 21 | 64 |
2023 January | 48 | 14 | 62 |
2022 December | 51 | 27 | 78 |
2022 November | 68 | 52 | 120 |
2022 October | 60 | 48 | 108 |
2022 September | 52 | 45 | 97 |
2022 August | 57 | 62 | 119 |
2022 July | 48 | 75 | 123 |
2022 June | 38 | 43 | 81 |
2022 May | 41 | 35 | 76 |
2022 April | 67 | 45 | 112 |
2022 March | 86 | 51 | 137 |
2022 February | 74 | 30 | 104 |
2022 January | 36 | 39 | 75 |
2021 December | 28 | 44 | 72 |
2021 November | 36 | 44 | 80 |
2021 October | 45 | 59 | 104 |
2021 September | 40 | 44 | 84 |
2021 August | 32 | 39 | 71 |
2021 July | 25 | 25 | 50 |
2021 June | 18 | 24 | 42 |
2021 May | 36 | 30 | 66 |
2021 April | 139 | 62 | 201 |
2021 March | 41 | 33 | 74 |
2021 February | 35 | 9 | 44 |
2021 January | 33 | 20 | 53 |
2020 December | 42 | 15 | 57 |
2020 November | 40 | 19 | 59 |
2020 October | 75 | 20 | 95 |
2020 September | 117 | 14 | 131 |
2020 August | 48 | 9 | 57 |
2020 July | 54 | 15 | 69 |
2020 June | 49 | 15 | 64 |
2020 May | 50 | 21 | 71 |
2020 April | 30 | 16 | 46 |
2020 March | 42 | 17 | 59 |
2020 February | 45 | 14 | 59 |
2020 January | 32 | 10 | 42 |
2019 December | 39 | 13 | 52 |
2019 November | 24 | 9 | 33 |
2019 October | 27 | 9 | 36 |
2019 September | 22 | 7 | 29 |
2019 August | 33 | 18 | 51 |
2019 July | 36 | 14 | 50 |
2019 June | 36 | 14 | 50 |
2019 May | 61 | 46 | 107 |
2019 April | 67 | 33 | 100 |
2019 March | 39 | 15 | 54 |
2019 February | 44 | 12 | 56 |
2019 January | 32 | 12 | 44 |
2018 December | 39 | 24 | 63 |
2018 November | 62 | 32 | 94 |
2018 October | 88 | 17 | 105 |
2018 September | 48 | 13 | 61 |
2018 August | 3 | 0 | 3 |
2018 July | 2 | 0 | 2 |
2018 June | 2 | 0 | 2 |
2018 May | 8 | 0 | 8 |
2018 April | 13 | 0 | 13 |
2018 March | 11 | 0 | 11 |
2018 February | 18 | 0 | 18 |
2018 January | 20 | 0 | 20 |
2017 December | 16 | 0 | 16 |
2017 November | 14 | 0 | 14 |
2017 October | 15 | 0 | 15 |
2017 September | 12 | 0 | 12 |
2017 August | 8 | 0 | 8 |
2017 July | 15 | 0 | 15 |
2017 June | 20 | 5 | 25 |
2017 May | 36 | 13 | 49 |
2017 April | 14 | 3 | 17 |
2017 March | 7 | 1 | 8 |
2017 February | 5 | 4 | 9 |
2017 January | 2 | 2 | 4 |
2016 December | 24 | 13 | 37 |
2016 November | 24 | 8 | 32 |
2016 October | 37 | 20 | 57 |
2016 September | 32 | 4 | 36 |
2016 August | 37 | 1 | 38 |
2016 July | 28 | 5 | 33 |
2016 May | 3 | 0 | 3 |