title: The need for genetic study to diagnose some cases of distal renal tubular acidosis.
abstract: We describe the case of a young woman who was diagnosed with advanced kidney disease, with an incidental finding of nephrocalcinosis of unknown aetiology, having been found asymptomatic throughout her life. The genetic study by panels of known genes associated with tubulointerstitial disease allowed us to discover autosomal dominant distal renal tubular acidosis associated with a de novo mutation in exon 14 of the SLC4A1 gene, which would have been impossible to diagnose clinically due to the advanced nature of the kidney disease when it was discovered.
authors: Servicio de Nefrología, Hospital General de Segovia, Segovia, España. Electronic address: mherasb@saludcastillayleon.es.
authors: Manuel
authors: M
authors: Heras Benito
authors: Grupo de Genética y Biología del Desarrollo de las Enfermedades Renales, Laboratorio de Nefrología (n.° 11), Instituto de Investigación Sanitaria (IDIS), Complexo Hospitalario de Santiago de Compostela (CHUS), Santiago de Compostela, España.
authors: Miguel A
authors: MA
authors: Garcia-Gonzalez
authors: Servicio de Nefrología, Hospital General de Segovia, Segovia, España.
authors: María
authors: M
authors: Valdenebro Recio
authors: Servicio de Nefrología, Hospital General de Segovia, Segovia, España.
authors: Álvaro
authors: Á
authors: Molina Ordás
authors: Servicio de Nefrología, Hospital General de Segovia, Segovia, España.
authors: Ramiro
authors: R
authors: Callejas Martínez
authors: Servicio de Nefrología, Hospital General de Segovia, Segovia, España.
authors: María Astrid
authors: MA
authors: Rodríguez Gómez
authors: Servicio de Nefrología, Hospital General de Segovia, Segovia, España.
authors: Leonardo
authors: L
authors: Calle García
authors: Grupo de Genética y Biología del Desarrollo de las Enfermedades Renales, Laboratorio de Nefrología (n.° 11), Instituto de Investigación Sanitaria (IDIS), Complexo Hospitalario de Santiago de Compostela (CHUS), Santiago de Compostela, España.
authors: Lisbeth
authors: L
authors: Sousa Silva
authors: Servicio de Nefrología, Hospital General de Segovia, Segovia, España.
authors: María José
authors: MJ
authors: Fernández-Reyes Luis
mesh_terms: D000141:Acidosis, Renal Tubular / Q000175:diagnosis* / Q000235:genetics*; D000328:Adult; D001457:Anion Exchange Protein 1, Erythrocyte / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D007668:Kidney / Q000503:physiopathology; D009154:Mutation; D009397:Nephrocalcinosis / Q000209:etiology
chemical_list: D001457:Anion Exchange Protein 1, Erythrocyte; C454201:SLC4A1 protein, human
keywords: Acidosis tubular renal distal autosómica dominante; Autosomal dominant distal renal tubular acidosis; Chronic kidney disease; Insuficiencia renal crónica; NGS Genetic panels; Nefrocalcinosis; Nephrocalcinosis; Paneles genéticos NGS