Treatment and long-term outcome in primary distal renal tubular acidosis

Nephrol Dial Transplant. 2019 Jun 1;34(6):981-991. doi: 10.1093/ndt/gfy409.


Background: Primary distal renal tubular acidosis (dRTA) is a rare disorder, and we aimed to gather data on treatment and long-term outcome.

Methods: We contacted paediatric and adult nephrologists through European professional organizations. Responding clinicians entered demographic, biochemical, genetic and clinical data in an online form.

Results: Adequate data were collected on 340 patients (29 countries, female 52%). Mutation testing had been performed on 206 patients (61%); pathogenic mutations were identified in 170 patients (83%). The median (range) presentation age was 0.5 (0-54) years and age at last follow-up was 11.0 (0-70.0) years. Adult height was slightly below average with a mean (SD score) of -0.57 (±1.16). There was an increased prevalence of chronic kidney disease (CKD) Stage ≥2 in children (35%) and adults (82%). Nephrocalcinosis was reported in 88%. Nephrolithiasis was more common with SLC4A1 mutations (42% versus 21%). Thirty-six percent had hearing loss, particularly in ATP6V1B1 (88%). The median (interquartile range) prescribed dose of alkali (mEq/kg/day) was 1.9 (1.2-3.3). Adequate metabolic control (normal plasma bicarbonate and normocalciuria) was achieved in 158 patients (51%), more commonly in countries with higher gross domestic product (67% versus 23%), and was associated with higher height and estimated glomerular filtration rate.

Conclusion: Long-term follow-up from this large dRTA cohort shows an overall favourable outcome with normal adult height for most and no patient with CKD Stage 5. However, 82% of adult patients have CKD Stages 2-4. Importance of adequate metabolic control was highlighted by better growth and renal function but was achieved in only half of patients.

Keywords: chronic kidney disease; distal renal tubular acidosis; nephrocalcinosis; nephrolithiasis; sensorineural hearing loss.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acidosis, Renal Tubular / complications
  • Acidosis, Renal Tubular / genetics
  • Acidosis, Renal Tubular / therapy*
  • Adolescent
  • Adult
  • Aged
  • Bicarbonates / blood
  • Calcium / urine
  • Child
  • Child, Preschool
  • Cohort Studies
  • DNA Mutational Analysis
  • Deafness / complications
  • Deafness / genetics
  • Deafness / therapy
  • Female
  • Genetic Association Studies
  • Glomerular Filtration Rate
  • Hearing Loss, Sensorineural / complications
  • Hearing Loss, Sensorineural / genetics
  • Hearing Loss, Sensorineural / therapy*
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Middle Aged
  • Mutation
  • Nephrocalcinosis / complications
  • Nephrocalcinosis / genetics
  • Nephrocalcinosis / therapy
  • Rare Diseases / complications
  • Vacuolar Proton-Translocating ATPases / genetics
  • Young Adult


  • ATP6V1B1 protein, human
  • Bicarbonates
  • Vacuolar Proton-Translocating ATPases
  • Calcium