The need for genetic study to diagnose some cases of distal renal tubular acidosis

• DOI: 10.1016/j.nefroe.2016.11.014
• Publication Date: 2016-12-13T14:33:08Z
• Authors: Manuel Heras Benito; Miguel A. Garcia-...; María Valdenebro ...; Álvaro Molina Ordás; Ramiro Callejas M...; María Astrid Rodr...; Leonardo Calle Ga...; Lisbeth Sousa Silva; María José Fernán...
• Keywords: Adult; Acidosis, Renal Tubular; Exons; Kidney; Diseases of the genitourinary system. Urology; 3. Good health; Nephrocalcinosis; Chronic kidney disease; Anion Exchange Protein 1, Erythrocyte; Mutation; NGS genetic panels; Humans; Female; RC870-923; Autosomal dominant distal renal tubular acidosis

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.