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Infantil de México Federico Gómez, México, D.F., Mexico" "etiqueta" => "c" "identificador" => "aff0015" ] 3 => array:3 [ "entidad" => "Servicio de Alergia e Inmunología Clínica Pediátrica, Hospital Infantil de México Federico Gómez, México, D.F., Mexico" "etiqueta" => "d" "identificador" => "aff0020" ] 4 => array:3 [ "entidad" => "Departamento de Endocrinología, Hospital Infantil de México Federico Gómez, México, D.F., Mexico" "etiqueta" => "e" "identificador" => "aff0025" ] 5 => array:3 [ "entidad" => "Departamento de Gastroenterología, Hospital Infantil de México Federico Gómez, México, D.F., Mexico" "etiqueta" => "f" "identificador" => "aff0030" ] 6 => array:3 [ "entidad" => "Laboratorio de Errores Innatos del Metabolismo y Tamiz, Instituto Nacional de Pediatría, México, D.F., Mexico" "etiqueta" => "g" "identificador" => "aff0035" ] 7 => array:3 [ "entidad" => "Departamento de Biología Molecular, Instituto Nacional de Pediatría, México, D.F., Mexico" "etiqueta" => "h" "identificador" => "aff0040" ] 8 => array:3 [ "entidad" => "Departamento de Fisiología, Facultad de Medicina, Universidad Nacional Autónoma de México, México, D.F., Mexico" "etiqueta" => "i" "identificador" => "aff0045" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "<span class="elsevierStyleItalic">Corresponding author</span>." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Informe de casos de acidosis tubular renal y errores de diagnóstico" ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Renal tubular acidosis (RTA) is a pathophysiological alteration of acid–base metabolism, characterised by the presence of hyperchloraemic metabolic acidosis, which is caused by renal loss of bicarbonate or a reduction in hydrogen ion excretion by the renal tubules.<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">1</span></a> A suspicion of RTA is based on the clinical presentation of various signs and symptoms such as anorexia, vomiting, polyuria, polydipsia, delayed growth, muscle weakness, rickets, nephrocalcinosis and sensorineural deafness.<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">2</span></a> The diagnosis is validated with laboratory examinations that should include the demonstration of hyperchloraemic metabolic acidosis, with a normal blood anion gap and a blood pH lower than 7.35, in patients with decompensated metabolic acidosis. In the case of secondary RTA, it is important to diagnose the systemic disease that is causing it.<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">1</span></a> It should be noted that intestinal losses of bicarbonate, whether they are due to diarrhoea or a fistula, are a common cause of the same acid–base alterations, and so they should not be present when a diagnosis of RTA is made.</p><p id="par0010" class="elsevierStylePara elsevierViewall">RTA has been reported to be overdiagnosed in Mexico,<a class="elsevierStyleCrossRefs" href="#bib0065"><span class="elsevierStyleSup">3,4</span></a> and it has been associated with allergy.<a class="elsevierStyleCrossRefs" href="#bib0070"><span class="elsevierStyleSup">4–6</span></a> For this reason, we conducted a study with the aim of documenting the diagnosis of RTA in children from different hospitals. A total of 170 children with a prior diagnosis of RTA were enrolled; the majority were receiving alkaline treatment. Treatment was suspended 5 to 7 days prior to the initial assessment, which consisted of a medical history, laboratory examinations and an assessment by the allergy department. A diagnosis of RTA was only confirmed in 3 patients (1.8%), one with distal RTA and 2 with RTA secondary to cystinosis, which were accompanied by Fanconi syndrome. None of them had an allergy. The rest of the patients’ prior diagnosis of RTA was erroneous; failure to thrive was caused by other conditions such as nutritional deficiency, Turner syndrome, giardiasis, coeliac disease, familial short stature, hypophosphataemic rickets, coenzyme Q10 deficiency or cardiomyopathy. The cases with RTA are described below.</p><p id="par0015" class="elsevierStylePara elsevierViewall"><span class="elsevierStyleBold">Case 1:</span> A 12-year-old eutrophic female patient with normal anthropometric measurements for her age and gender. She was diagnosed with RTA at one month of age, and since then she has been receiving a potassium citrate solution. On the third day of suspending alkaline treatment she had vomiting, metabolic acidosis, blood pH 7.22; [HCO<span class="elsevierStyleInf">3</span><span class="elsevierStyleSup">−</span>] 10<span class="elsevierStyleHsp" style=""></span>mmol/l; blood anion gap 11; K<span class="elsevierStyleSup">+</span> 2.2<span class="elsevierStyleHsp" style=""></span>mEq/l; Cl<span class="elsevierStyleSup">−</span> 114<span class="elsevierStyleHsp" style=""></span>mEq/l; urine calcium/creatinine 1.38; urinary pH: 7.5. Alkaline treatment — bicarbonate and potassium — was restarted. Kidney ultrasound: grade III medullary nephrocalcinosis. Molecular study: mutation of the <span class="elsevierStyleItalic">ATPV60A4</span> gene, not previously reported in the literature, which shall be the subject of a subsequent publication.</p><p id="par0020" class="elsevierStylePara elsevierViewall"><span class="elsevierStyleBold">Case 2:</span> A 22-month-old male patient with delayed growth since sixth months of age. At 11 months, he was diagnosed with distal ATR, with vomiting, polydipsia and polyuria, and he received treatment with a potassium citrate solution. Entry into the study: weight 7.88<span class="elsevierStyleHsp" style=""></span>kg (<span class="elsevierStyleItalic">p</span><span class="elsevierStyleHsp" style=""></span><<span class="elsevierStyleHsp" style=""></span>3); height 71<span class="elsevierStyleHsp" style=""></span>cm (<span class="elsevierStyleItalic">p</span><span class="elsevierStyleHsp" style=""></span><<span class="elsevierStyleHsp" style=""></span>3); weight/age 71%; weight/height 86.3%; height/age 91.8%; BMI <span class="elsevierStyleItalic">Z</span>-score: −1.47. Blood gases pH 7.39; [HCO<span class="elsevierStyleInf">3</span><span class="elsevierStyleSup">−</span>] 16.2<span class="elsevierStyleHsp" style=""></span>mmol/l; K<span class="elsevierStyleSup">+</span> 3.0<span class="elsevierStyleHsp" style=""></span>mEq/l; HPO<span class="elsevierStyleInf">4</span><span class="elsevierStyleSup">−</span> 2.4<span class="elsevierStyleHsp" style=""></span>mg/dl; urine pH: 7.5; trace albumin, +glucosuria; microscopic haematuria, 45% tubular reabsorption of phosphate. Administration of furosemide: did not have urinary acidification. Ophthalmology: birefringent crystals in the cornea with a slit lamp. A diagnosis of infantile nephropathic cystinosis was considered. Molecular study of the <span class="elsevierStyleItalic">CTNS</span> gene (17p13, NG_012489.1 RefSeqGene): compound heterozygous genotype, predictor of severe form of infantile nephropathic cystinosis with deletion of 57<span class="elsevierStyleHsp" style=""></span>kb, deletion of the first 10 exons, mutation more common in Caucasian, Mexican and Latin American patients<a class="elsevierStyleCrossRefs" href="#bib0085"><span class="elsevierStyleSup">7,8</span></a> with cystinosis and a minor deletion previously reported in European populations.<a class="elsevierStyleCrossRef" href="#bib0095"><span class="elsevierStyleSup">9</span></a> Treatment with cysteamine bitartrate, phosphates, bicarbonate and potassium, with satisfactory evolution.</p><p id="par0025" class="elsevierStylePara elsevierViewall"><span class="elsevierStyleBold">Case 3:</span> A 20-month-old female patient with polyuria, polydipsia, anorexia and delayed growth. RTA was suspected, and she was referred to our institution without being treated. Weight 6.9<span class="elsevierStyleHsp" style=""></span>kg (<span class="elsevierStyleItalic">p</span><span class="elsevierStyleHsp" style=""></span><<span class="elsevierStyleHsp" style=""></span>3); height 75.5<span class="elsevierStyleHsp" style=""></span>cm (<span class="elsevierStyleItalic">p</span><span class="elsevierStyleHsp" style=""></span><<span class="elsevierStyleHsp" style=""></span>3); weight/age 60.9%; weight/height 73%; height/age 91.3%. Blood gases: pH 7.47; [HCO<span class="elsevierStyleInf">3</span><span class="elsevierStyleSup">−</span>] 13.8<span class="elsevierStyleHsp" style=""></span>mmol/l; K<span class="elsevierStyleSup">+</span> 3.6<span class="elsevierStyleHsp" style=""></span>mEq/l; HPO<span class="elsevierStyleInf">4</span><span class="elsevierStyleSup">−</span> 2.2<span class="elsevierStyleHsp" style=""></span>mg/dl; Cl<span class="elsevierStyleSup">−</span> 114<span class="elsevierStyleHsp" style=""></span>mEq/l; urine pH 7.0; glucosuria 100<span class="elsevierStyleHsp" style=""></span>mg/dl; +albumin. Ophthalmology: birefringent corneal cystine crystals. Molecular study of the <span class="elsevierStyleItalic">CTNS</span> gene: homozygous genotype, microdeletion of exon 12, which deleted amino acids 346–349 of the 7th transmembrane domain of cystinosin, which confirmed the diagnosis of infantile nephropathic cystinosis, reported in Europeans<a class="elsevierStyleCrossRef" href="#bib0100"><span class="elsevierStyleSup">10</span></a>. Treatment with cysteamine bitartrate, phosphates, bicarbonate and potassium.</p><p id="par0030" class="elsevierStylePara elsevierViewall">We concluded that RTA is an uncommon tubulopathy, not associated with allergy, and confirmed that it is overdiagnosed in Mexico. We recommend a comprehensive paediatric approach in children with delayed growth, considering other diseases in addition to RTA, with special caution in the studies that are requested and their quality. When RTA is diagnosed, the presence of primary diseases with secondary RTA should be ruled out, and suitable guidance and nutritional support should be provided.</p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Funding</span><p id="par0035" class="elsevierStylePara elsevierViewall">The study was funded by <span class="elsevierStyleGrantSponsor" id="gs1">Federal Funds for Hospital Infantil de México Federico Gómez</span> protocol HIM/2012/036. Molecular study of the <span class="elsevierStyleItalic">CTNS</span> gene for patients with cystinosis was funded by <span class="elsevierStyleGrantSponsor" id="gs2">Federal Research Funds of the Mexican National Institute of Paediatrics</span> (INP) (Modality A, summons 2014–2015).</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Conflict of interest</span><p id="par0040" class="elsevierStylePara elsevierViewall">The authors have no conflict of interest to declare.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:4 [ 0 => array:2 [ "identificador" => "sec0005" "titulo" => "Funding" ] 1 => array:2 [ "identificador" => "sec0010" "titulo" => "Conflict of interest" ] 2 => array:2 [ "identificador" => "xack277946" "titulo" => "Acknowledgements" ] 3 => 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: Medeiros M, Enciso S, Hernández AM, Hernández HRG, Toussaint G, Pinto C, et al. Informe de casos de acidosis tubular renal y errores de diagnóstico. Nefrología. 2016;36:323–325.</p>" ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:10 [ 0 => array:3 [ "identificador" => "bib0055" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Renal tubular acidosis in children: State of the art, diagnosis and treatment" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ 0 => "R.E.L. Muñoz-Arizpe" 1 => "M. 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Nuutinen" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1002/humu.10141" "Revista" => array:6 [ "tituloSerie" => "Hum Mutat" "fecha" => "2002" "volumen" => "20" "paginaInicial" => "439" "paginaFinal" => "446" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/12442267" "web" => "Medline" ] ] ] ] ] ] ] ] ] ] ] ] "agradecimientos" => array:1 [ 0 => array:4 [ "identificador" => "xack277946" "titulo" => "Acknowledgements" "texto" => "<p id="par0045" class="elsevierStylePara elsevierViewall">The authors would like to thank Lourdes Ortiz, Ruben Aldana, Cristina Alcantara, Humberto Gonzalez, Gregoria Morales, Fabiola García, Alejandra Sanchez and Joanna Salazar; the Mexican Foundation for Renal AcidosisTubular Mexicana (FUNATIM), and Dr. RosaVargas Possou.</p>" "vista" => "all" ] ] ] "idiomaDefecto" => "en" "url" => "/20132514/0000003600000003/v3_201704140402/S2013251416300190/v3_201704140402/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/20132514/0000003600000003/v3_201704140402/S2013251416300190/v3_201704140402/en/main.pdf?idApp=UINPBA000064&text.app=https://revistanefrologia.com/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2013251416300190?idApp=UINPBA000064" ]
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