Hypertensive urgency and stunting. What is the diagnosis?
URGENCIA HIPERTENSIVA Y TALLA BAJA. ¿CUÁL ES SU DIAGNÓSTICO?
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What is the diagnosis?" 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Seccion de Nefrologia Pediatrica, Hospital Virgen Macarena, Sevilla, Sevilla, España, " "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "affa" ] 1 => array:3 [ "entidad" => "Servicio de Genetica Clinica, HOspital UNiversitario VirgenMacarena, Sevilla, Sevilla, España, " "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "affb" ] 2 => array:3 [ "entidad" => " Hospital Infantil, Hospital Universitario VirgenMacarena, Sevilla, Sevilla, España, " "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "affc" ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "URGENCIA HIPERTENSIVA Y TALLA BAJA. ¿CUÁL ES SU DIAGNÓSTICO?" ] ] "textoCompleto" => "<p class="elsevierStylePara">Dear Editor:</p><p class="elsevierStylePara">Tuberous sclerosis (TS) is a congenital anomaly of embryonic development, autosomal dominant inherited disorder, which has different forms of clinical expression. It is classified among the so-called phacomatoses: developmental anomalies susceptible to generating tumours or hamartomas of the nervous system. We present the case of a patient who was diagnosed by chance after a consultation in the Emergency Unit for another reason.</p><p class="elsevierStylePara">The case concerns a schoolgirl of 6 years and 6/12 months who attended the Emergency Unit due to an evanescent, occasionally petequial, rash which had been developing for several hours. Associated fever. Examination: weight 15.300kg (SD 6.3kg). Height 100cm (SD 16cm). Blood pressure: MID-160/120, MII-177/107, MSI- 169/118, MSD-169/110.</p><p class="elsevierStylePara">On physical examination the child showed no indication of severe illness. Afebrile. Dry skin, mucous membranes hydrated and somewhat pale. Dermal lesions associated with acute virosis. Rhythmic heart tones and strong II/VI systolic murmur heard in all positions. No findings in the abdomen: soft, depressible without pain, no organomegaly, sparse adipose tissue. Femoral pulse palpated. DTRs present. No meningeal signs. Hyperemic oropharynx.</p><p class="elsevierStylePara">Additional explorations: CBC: normochromic, normocytic anaemia. Leukocytosis, slight netrophilia, eosinophilia. Biochemistry: glucose 121mg/dL, urea: 135mg/dL, creatinine: 1.6mg/dL. Control: glucose: 81mg/dL, urea: 113mg/dL, creatinine: 1.1mg/dL, magnesium: 2.2, CRP: 215.8mg/l (N: 2-5). Control: 11.4, ABB: normal; serum iron: 64mg/dL (N: 45-156); lipid profile: normal; ESR: 4mm (N: 0-20); PTH: 75U/mcrl; infectious mononucleosis serology negative; pharyngeal culture: Streptococcus pyogenes; aldosterone: 50.10NG/dl, renin: 0.50ngml/h aldosterone/renin: 100.2 (<30). Coagulation test: normal. Urine: haematuria, mild proteinuria. Renal function test: glomerular filtration: 34ml/min/1.73m2; calciuria: 3mg/kg/day; phosphaturia: 29mg/kg/day (N = 15-20); natriuria: 3.44mEq/kg/day (3.87 ± 1.3mEq/kg/day); kaliuria: 2.24 mEq/kg/day (1.73 ± 0.7mEq/kg/day). RTP: 64%; urine culture: negative; microalbunin/creatinine index: 3. 222mg/g; folic acid, vitamin B12 and eye depth: papillary pallor. No oedema of the papilla, clear edges. No other abnormalities were found; ECG: left ventricular hypertrophy. Echocardiogram: normal; left hand and wrist x-ray: osseous age of five years; immunoglobulins, C3 and C4 ANA and AMAnormal; catecholamine: normal.</p><p class="elsevierStylePara">Renal abdominal ultrasound (Doppler): kidneys were within normal size range but with structural alterations. Focal lesions of bilateral renal parenchyma were present.</p><p class="elsevierStylePara">MRI of the abdomen, cranium and pelvis: angiomyolipomas with a sparse or almost undetectable quantity of intratumoral fatty tissue. Cerebral images compatible with small hamartomata in the white matter. Both suggestive of tuberous sclerosis. Genetic tests on TSC1 and TSC2 were both negative.</p><p class="elsevierStylePara">Evolution: improvement in blood pressure after starting treatment with ACEI and ARA II, being normal for the patient’s age and size after use and with negative proteinuria.</p><p class="elsevierStylePara">Angiomyolipoma (AML) is the most common renal lesion in TS (34-80%), followed by renal cysts and polycystic disease. This is due to the fact that the TSC2 locus is adjacent to one of the polycystic kidney disease genes (PKD1) and adjacent deletions can produce both phenotypes.</p><p class="elsevierStylePara">Angiomyolipoma is a benign tumour of the renal cortex, characterised by the presence of mature or immature fatty tissue, vascular wall and smooth muscle though with the capacity to provoke severe haemorrhage, replacement of renal parenchyma and mass effect, which can induce pain and may compromise renal function.<span class="elsevierStyleSup">1</span> Renal failure is less frequent, and is generally associated with glomerulosclerosis secondary to hyperfiltration as a result of surgery or tumoral invasion, particularly by cysts.<span class="elsevierStyleSup">2</span> Some patient groups have indicated that there are variants of angiomyolipoma which have the capacity for metastatic growth.<span class="elsevierStyleSup">3</span></p><p class="elsevierStylePara">Despite being benign there is a possibility of malignant transformation.<span class="elsevierStyleSup">4</span> Furthermore, the tumour can occasionally relapse in patients who have already been subject to intervention.<br></br></p>" "pdfFichero" => "P-E-S-A139-EN.pdf" "tienePdf" => true "bibliografia" => array:2 [ "titulo" => "Bibliography" "seccion" => array:1 [ 0 => array:1 [ "bibliografiaReferencia" => array:4 [ 0 => array:3 [ "identificador" => "bib1" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:3 [ "referenciaCompleta" => "Lim SD, Stallcup W, Lefkove B, Govindarajan B, Au KS, Northrup H, et al. Expression of the neural stem cell markers NG2 and L1 in human angiomyolipoma: are angiomyolipomas neoplasms of stem cells? Mol Med 2007;13(3-4):160-5. <a href="http://www.ncbi.nlm.nih.gov/pubmed/17592550" target="_blank">[Pubmed]</a>" "contribucion" => array:1 [ 0 => null ] "host" => array:1 [ 0 => null ] ] ] ] 1 => array:3 [ "identificador" => "bib2" "etiqueta" => "2" "referencia" => array:1 [ 0 => array:3 [ "referenciaCompleta" => "Schillinger F, Montagnac R. Renal lesions in tuberous sclerosis. Nephrol Ther 2006;2(2):S123-6. <a href="http://www.ncbi.nlm.nih.gov/pubmed/17373212" target="_blank">[Pubmed]</a>" "contribucion" => array:1 [ 0 => null ] "host" => array:1 [ 0 => null ] ] ] ] 2 => array:3 [ "identificador" => "bib3" "etiqueta" => "3" "referencia" => array:1 [ 0 => array:3 [ "referenciaCompleta" => "Al-Saleem T, Wessner LL, Scheithauer BW, et al. Malignant tumors of the kidney, brain and soft tissues in children and young adults with the tuberous sclerosis complex. Cancer 1998;83:2208-16. <a href="http://www.ncbi.nlm.nih.gov/pubmed/9827727" target="_blank">[Pubmed]</a>" "contribucion" => array:1 [ 0 => null ] "host" => array:1 [ 0 => null ] ] ] ] 3 => array:3 [ "identificador" => "bib4" "etiqueta" => "4" "referencia" => array:1 [ 0 => array:3 [ "referenciaCompleta" => "Inci O, Kaplan M, Yalcin O, Atakan IH, Kubat H. Renal angiomyolipoma with malignant transformation, simultaneous occurrence with malignity and other complex clinical situations. Int Urol Nephrol 2006;38(3-4):417-26. <a href="http://www.ncbi.nlm.nih.gov/pubmed/17033887" target="_blank">[Pubmed]</a>" "contribucion" => array:1 [ 0 => null ] "host" => array:1 [ 0 => null ] ] ] ] ] ] ] ] ] "idiomaDefecto" => "en" "url" => "/20132514/0000002900000004/v0_201502091627/X2013251409003378/v0_201502091628/en/main.assets" "Apartado" => array:4 [ "identificador" => "35436" "tipo" => "SECCION" "en" => array:2 [ "titulo" => "Letters to the Editor" "idiomaDefecto" => true ] "idiomaDefecto" => "en" ] "PDF" => "https://static.elsevier.es/multimedia/20132514/0000002900000004/v0_201502091627/X2013251409003378/v0_201502091628/en/P-E-S-A139-EN.pdf?idApp=UINPBA000064&text.app=https://revistanefrologia.com/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/X2013251409003378?idApp=UINPBA000064" ]
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