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

Nefrologia. 2016 Sep-Oct;36(5):552-555. doi: 10.1016/j.nefro.2016.06.008. Epub 2016 Aug 1.
[Article in English, Spanish]

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.

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.

Publication types

  • Case Reports

MeSH terms

  • Acidosis, Renal Tubular / diagnosis*
  • Acidosis, Renal Tubular / genetics*
  • Adult
  • Anion Exchange Protein 1, Erythrocyte / genetics*
  • Exons
  • Female
  • Humans
  • Kidney / physiopathology
  • Mutation
  • Nephrocalcinosis / etiology

Substances

  • Anion Exchange Protein 1, Erythrocyte
  • SLC4A1 protein, human