Case report
Multiple parapelvic cysts in Fabry disease
Múltiples quistes parapiélicos en la enfermedad de Fabry
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Azancot, Josefa Vila, Carmen Domínguez, Xavier Serres, Eugenia Espinel" "autores" => array:5 [ 0 => array:3 [ "nombre" => "María A." "apellidos" => "Azancot" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 1 => array:3 [ "nombre" => "Josefa" "apellidos" => "Vila" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 2 => array:3 [ "nombre" => "Carmen" "apellidos" => "Domínguez" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 3 => array:3 [ "nombre" => "Xavier" "apellidos" => "Serres" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "aff0015" ] ] ] 4 => array:4 [ "nombre" => "Eugenia" "apellidos" => "Espinel" "email" => array:1 [ 0 => "eespinel@vhebron.net" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] ] "afiliaciones" => array:3 [ 0 => array:3 [ "entidad" => "Servicio de Nefrología, Hospital Universitari Vall d’Hebron, Barcelona, Spain" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "CIBBIM-Nanomedicina, Hospital Universitari Vall d’Hebron, Barcelona, Spain" "etiqueta" => "b" "identificador" => "aff0010" ] 2 => array:3 [ "entidad" => "Servicio de Radiología, Hospital Universitari Vall d’Hebron, Barcelona, Spain" "etiqueta" => "c" "identificador" => "aff0015" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "<span class="elsevierStyleItalic">Corresponding author</span>." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Múltiples quistes parapiélicos en la enfermedad de Fabry" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0015" "etiqueta" => "Fig. 3" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr3.jpeg" "Alto" => 986 "Ancho" => 800 "Tamanyo" => 85093 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0035" class="elsevierStyleSimplePara elsevierViewall">Cardiac MRI showing diffuse thickening of both ventricles, with lateral midwall enhancement extending to the apex of the left ventricle, consistent with Fabry disease.</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0025">Introduction</span><p id="par0005" class="elsevierStylePara elsevierViewall">Fabry disease (FD) is a result of a deficiency in the enzyme alpha-galactosidase A (alpha-GLA A), which leads to the deposition of globotriaosylceramide (Gb3) in the tissues.<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">1</span></a> It is a hereditary disease, linked to the X chromosome, that manifests in homozygous men and heterozygous women, the latter being affected to a variable degree.<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">2</span></a> It is a disease that may occur in all races, whose prevalence ranges from 1:50,000 in men<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">3</span></a>; however, a study conducted in newborns found an incidence of 1:37,000.<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">4</span></a> FD has a broad range of clinical manifestations, which makes it difficult to establish a timely diagnosis. The onset of symptoms, in general, starts in childhood, and neuropathic pain and multiple angiokeratomas on the skin are present in a high percentage of cases.<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">5</span></a> In adulthood, renal impairment begins, characteristically, by proteinuria with progression to chronic kidney disease, which is associated with an increase in mortality, in these patients. Parapelvic cysts have also been reported in FD as a radiological finding.<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">6</span></a></p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Case report</span><p id="par0010" class="elsevierStylePara elsevierViewall">We present the case of a 47-year-old man with no family history of FD who had been undergoing outpatient monitoring in our department since 2002 owing to proteinuria. In 2006, abdominal ultrasound and magnetic resonance imaging (MRI) showed poor corticomedullary differentiation and multiple bilateral parapelvic cysts (<a class="elsevierStyleCrossRefs" href="#fig0005">Figs. 1 and 2</a>). In 2007, owing to a deterioration in kidney function with serum creatinine levels of 1.6<span class="elsevierStyleHsp" style=""></span>mg/dl and proteinuria levels of 1<span class="elsevierStyleHsp" style=""></span>g/24<span class="elsevierStyleHsp" style=""></span>h, it was decided to perform an ultrasound-guided renal biopsy, which revealed changes consistent with moderate/severe chronic interstitial nephritis. In 2009, the patient was admitted owing to oedema and dyspnoea on exertion. The examination showed no cutaneous lesions suggestive of skin angiokeratomas. Laboratory testing on admission showed serum creatinine levels of 1.7<span class="elsevierStyleHsp" style=""></span>mg/dl and proteinuria levels of 2.4<span class="elsevierStyleHsp" style=""></span>g/24<span class="elsevierStyleHsp" style=""></span>h. Echocardiogram and cardiac MRI findings showed probable myocardiopathy due to deposition disease (<a class="elsevierStyleCrossRef" href="#fig0015">Fig. 3</a>). Electromyography showed signs of small fibre neuropathy, with abnormalities in autonomic function. A sweat test was performed that collected no sweat after stimulation with pilocarpine, and an ophthalmological study was performed that revealed cornea verticillata.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia><elsevierMultimedia ident="fig0015"></elsevierMultimedia><p id="par0015" class="elsevierStylePara elsevierViewall">Given the clinical suspicion of FD, the level of alpha-galactosidase activity in leukocytes and plasma was determined, using a 4-methylumbelliferyl α-<span class="elsevierStyleSmallCaps">d</span>-galactosidase fluorogenic substrate. GLA activity was 0.5<span class="elsevierStyleHsp" style=""></span>nmol/h/ml (2% of normal) in plasma, and 4.2<span class="elsevierStyleHsp" style=""></span>nmol/h/mg for protein (10.7% of normal) in leukocytes, which confirmed a diagnosis of FD. The enzyme's activity was normal in the family members of the patient who were studied (mother and sister). A genetic study was performed wherein genomic deoxyribonucleic acid (DNA) was extracted from a dried blood spot and coding gene fragments were amplified using PCR. Direct sequencing of the 7 exons of the GLA gene was performed using a capillary sequencer (ABI PRISM<span class="elsevierStyleSup">®</span> 310 Genetic Analyzer). The analysis determined that the patient was homozygous for a new c.1182del mutation (deletion of a single nucleotide) in exon 7 of the alpha-GLA A gene. The patient's mother and sister were investigated and found to be negative for this mutation. The patient's remaining siblings were not available for the study, but none of them had manifested clinical symptoms associated with the disease, to date. The patient had a son, and so the mutation was not transmitted to his offspring. Hormone replacement therapy was started with agalsidase alfa (Replagal<span class="elsevierStyleSup">®</span>). During follow-up, his oedema and neuropathic pain improved, but his renal function progressively worsened and became end-stage renal disease, in a period of 3 years. The patient started haemodialysis, and one year later, he received a living-donor kidney graft from his wife. The patient, during post-transplant follow-up, maintained stable renal function with an estimated glomerular filtration rate of 45<span class="elsevierStyleHsp" style=""></span>ml/min/1.73<span class="elsevierStyleHsp" style=""></span>m<span class="elsevierStyleSup">2</span> and proteinuria levels of 200<span class="elsevierStyleHsp" style=""></span>mg/24<span class="elsevierStyleHsp" style=""></span>h. He underwent follow-up biopsies at 3 months and one year that showed no Gb3 deposits in the renal tissue. Regarding his cardiac progression, clinically he had the onset of dyspnoea on exertion, in addition to a worsening of his myocardial fibrosis, assessed by cardiac magnetic resonance imaging in February 2014. It was decided to change his treatment to agalsidase beta (Fabrazyme<span class="elsevierStyleSup">®</span>) from then onwards.</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Discussion</span><p id="par0020" class="elsevierStylePara elsevierViewall">Parapelvic cysts are not uncommon in FD, but they are not specific to this condition. In a previous study of 122 FD patients (76 men and 40 women), it was observed an increased frequency of cortical and parapelvic cysts as compared to the general population.<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">6</span></a> Another study found that parapelvic renal cysts were more common in patients with FD than in healthy control subjects.<a class="elsevierStyleCrossRef" href="#bib0070"><span class="elsevierStyleSup">7</span></a> Although our patient did not show angiokeratomas, one of the most common clinical manifestations in patients with FD, his signs and symptoms and the findings in his imaging studies led us to suspect a genetic basis for the disease. The finding of multiple cysts in the renal sinus in a young patient with kidney failure of unknown origin should raise the possibility of FD in the appropriate clinical context.</p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0040">Conflicts of interest</span><p id="par0025" class="elsevierStylePara elsevierViewall">The authors declare that they have no conflicts of interest.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:9 [ 0 => array:3 [ "identificador" => "xres828251" "titulo" => "Abstract" "secciones" => array:1 [ 0 => array:1 [ "identificador" => "abst0005" ] ] ] 1 => array:2 [ "identificador" => "xpalclavsec824467" "titulo" => "Keywords" ] 2 => array:3 [ "identificador" => "xres828250" "titulo" => "Resumen" "secciones" => array:1 [ 0 => array:1 [ "identificador" => "abst0010" ] ] ] 3 => array:2 [ "identificador" => "xpalclavsec824468" "titulo" => "Palabras clave" ] 4 => array:2 [ "identificador" => "sec0005" "titulo" => "Introduction" ] 5 => array:2 [ "identificador" => "sec0010" "titulo" => "Case report" ] 6 => array:2 [ "identificador" => "sec0015" "titulo" => "Discussion" ] 7 => array:2 [ "identificador" => "sec0020" "titulo" => "Conflicts of interest" ] 8 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2015-03-26" "fechaAceptado" => "2015-12-05" "PalabrasClave" => array:2 [ "en" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Keywords" "identificador" => "xpalclavsec824467" "palabras" => array:3 [ 0 => "Fabry disease" 1 => "Parapelvic cysts" 2 => "<span class="elsevierStyleItalic">De novo</span> mutation" ] ] ] "es" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Palabras clave" "identificador" => "xpalclavsec824468" "palabras" => array:3 [ 0 => "Enfermedad de Fabry" 1 => "Quistes parapiélicos" 2 => "Mutación <span class="elsevierStyleItalic">de novo</span>" ] ] ] ] "tieneResumen" => true "resumen" => array:2 [ "en" => array:2 [ "titulo" => "Abstract" "resumen" => "<span id="abst0005" class="elsevierStyleSection elsevierViewall"><p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Fabry disease is an inherited, X-linked lysosomal storage disorder caused by deficiency of the enzyme alpha galactosidase A (alpha-GLA A), which leads to glycosphingolipid accumulation, mainly globotriaosylceramide, in tissues. Disease prevalence and the index of suspicion are both low, which tends to result in delayed diagnosis and treatment.</p><p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">We present the case of a male Fabry disease patient who manifested no angiokeratoma lesions but presented multiple parapelvic cysts and renal failure. The genetic study revealed an alpha-GLA A gene mutation that had not been recorded in the mutations registry. The <span class="elsevierStyleItalic">de novo</span> mutation was not found in his relatives and it was not transmitted to his offspring. The large number and peculiar appearance of the parapelvic cysts led to the diagnosis.</p></span>" ] "es" => array:2 [ "titulo" => "Resumen" "resumen" => "<span id="abst0010" class="elsevierStyleSection elsevierViewall"><p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">La enfermedad de Fabry es una enfermedad de depósito lisosomal de carácter hereditario, ligada al cromosoma X, causado por el déficit de la enzima alfa-galactosidasa A (alfa-GLA A), lo que conduce a la acumulación de glicoesfingolípidos, principalmente globotriaosilceramida, en los tejidos. Es una enfermedad poco prevalente, y con muy bajo índice de sospecha, por lo que, generalmente, existe un retraso en el diagnóstico y en el tratamiento.</p><p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">Presentamos un caso de un paciente varón afecto de la enfermedad de Fabry, que presentaba múltiples quistes parapiélicos e insuficiencia renal, sin presentar angioqueratomas. El estudio genético mostró una mutación en el gen de alfa-GLA A que no ha sido descrita previamente en el registro de mutaciones, y <span class="elsevierStyleItalic">de novo</span>, ya que no se encontró en otros familiares, además que no fue trasmitida a la descendencia. La presencia de múltiples quistes parapiélicos y su peculiar aspecto fue lo que hizo sospechar el diagnóstico de la enfermedad.</p></span>" ] ] "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Azancot MA, Vila J, Domínguez C, Serres X, Espinel E. Múltiples quistes parapiélicos en la enfermedad de Fabry. Nefrologia. 2016;36:310–312.</p>" ] ] "multimedia" => array:3 [ 0 => array:7 [ "identificador" => "fig0005" "etiqueta" => "Fig. 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 597 "Ancho" => 900 "Tamanyo" => 97915 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0025" class="elsevierStyleSimplePara elsevierViewall">Abdominal ultrasound, in a longitudinal oblique view of the left kidney, showing corticomedullary hyperechogenicity (white arrows) and parapelvic cysts (black arrows).</p>" ] ] 1 => array:7 [ "identificador" => "fig0010" "etiqueta" => "Fig. 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 600 "Ancho" => 900 "Tamanyo" => 74850 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0030" class="elsevierStyleSimplePara elsevierViewall">Axial T1 MRI, showing kidneys with poor corticomedullary differentiation (arrows) and parapelvic cysts (short arrow).</p>" ] ] 2 => array:7 [ "identificador" => "fig0015" "etiqueta" => "Fig. 3" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr3.jpeg" "Alto" => 986 "Ancho" => 800 "Tamanyo" => 85093 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0035" class="elsevierStyleSimplePara elsevierViewall">Cardiac MRI showing diffuse thickening of both ventricles, with lateral midwall enhancement extending to the apex of the left ventricle, consistent with Fabry disease.</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:7 [ 0 => array:3 [ "identificador" => "bib0040" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Fabry disease: classification as a sphingolipidosis and partial characterization of a novel glycolipid" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ 0 => "C.C. 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| Year/Month | Html | Total | |
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