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

• Published in: European journal of pediatrics 2013-06, Vol.172 (6), p.775-780
• Main Authors: Mejía, Natalia, Santos, Fernando, Claverie-Martín, Félix, García-Nieto, Víctor, Ariceta, Gema, Castaño, Luis
• Format: Article
• Language: English
• Subjects: Acidosis; Collaboration; Cooperative Behavior; Databases, Genetic; Genetic Testing; Genotyping Techniques; Hospitals; Humans; International Cooperation; Internet; Medical referrals; Medicine; Medicine & Public Health; Mutation; Nephrology; Original Article; Pediatrics; Rare diseases; Registries; Renal Tubular Transport, Inborn Errors - diagnosis; Renal Tubular Transport, Inborn Errors - genetics; Rickets; Spain; Translational Medical Research
• ISSN: 0340-6199; 1432-1076
• DOI: 10.1007/s00431-013-1934-6

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 http://www.renaltube.com , 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.