RenalTube: a network tool for clinical and genetic diagnosis of primary tubulopathies

Eur J Pediatr. 2013 Jun;172(6):775-80. doi: 10.1007/s00431-013-1934-6. Epub 2013 Feb 7.


The main purpose was to build a database while facilitating access to genotyping in order to improve the clinical and molecular knowledge of primary tubulopathies. Three tertiary referral centers of Spain collect clinical data through the site , while offering the analysis of 22 genes corresponding to 23 primary tubulopathies. There are three ways of collaboration: option 1 consists of adding patients to the database with clinical and biochemical information and requesting for genetic study, option 2 requires the payment of a fee for genetic analysis exclusively, and option 3 allows the enrollment of patients with a previously confirmed mutation. After 2 years of activity, RenalTube has collected data from 222 patients, the majority from Spain and Latin America (85.3 %). The most common tubulopathies are distal renal tubular acidosis (22.5 %) and classical Bartter syndrome (19.3 %) followed by familial hypomagnesemia with hypercalciuria and nephrocalcinosis (15.7 %) and Gitelman syndrome (15 %). Option 1 is the collaborating method preferred by doctors (62.3 %) followed by option 3 (36.3 %).

Conclusion: RenalTube is a network-based registry that can be easily reached and filled out worldwide. A web-based approach with a multilateral collaboration scheme enhances the recruitment of data and promotes the understanding of underlying mechanisms of rare inherited diseases, defines more accurate diagnostic and follow-up criteria, develops new molecular techniques and will improve the overall care of the patients.

Publication types

  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cooperative Behavior
  • Databases, Genetic*
  • Genetic Testing
  • Genotyping Techniques
  • Humans
  • International Cooperation
  • Internet
  • Registries*
  • Renal Tubular Transport, Inborn Errors / diagnosis*
  • Renal Tubular Transport, Inborn Errors / genetics
  • Spain
  • Translational Medical Research