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Spanish scientists approach the early diagnosis of chronic renal diseases in children

A team, coordinated by the University of Oviedo, the HUCA and two other Spanish hospitals, performs the genetic sequencing of 23 types of primary tubulopathies

An early and precise diagnosis is key to avoid the most serious consequences of some primary tubulopathies, a renal disease that usually affects children and which is considered to be part of the group of rara diseases. Researchers from the University of Oviedo coordinate the RenalTube project, an initiative in which they collaborated with more than 400 specialists from all over the world, and which has led to the discovery of new mutations of the different pathologies, thanks to the genetic study of each of the cases. The research project, funded by the Carlos III Health Institute and which has been supported by the Salud 2000 Foundation, has compiled in its portal ( the information of 418 patients diagnosed from all around the world in order to advance the knowledge of the diseases, so that doctors can share information and thus improve the global care of this patients. Primary tubulopathies, the main object of study of RenalTube, are diseases of the renal tubules. They are catalogued in the group of rare diseases and usually affect children. They are congenital, hereditary and chronic pathologies. The team coordinated by Doctor Fernando Santos and Doctor Helena Gil-Peña, from the University of Oviedo and the Central University Hospital of Asturias (HUCA), is composed by basic and clinical researchers from these institutions and from the Nuestra Señora de Candelaria University Hospital of Tenerife and the University Hospital of Cruces, in Bilbao. The main results achieved by RenalTube have been recently made available at the congress of the International Pediatric Nephrology Association (IPNA), which took place in Shanghai, and have also been published in prestigious journals in the field of child nephrology. The portal has been working for less than three years, during which it has gathered detailed information about 418 from all around the globe. The three laboratories that participated int he project have conducted an automatic sequencing of the genes, which allows for a genetic diagnosis of many of the patients studied, and which has led to the discovery of new mutations in some of the primary tubulopathies. The experts are working with a set of patients affected by 23 different types of pathologies classified in the website into 11 folders. The genetic analyses of each of the tubulopathies are spread between three laboratories. In the case of Asturias, they study, for example, distal tubular acidosis, Gitelman's syndrome and the different forms of hereditary rickets. Primary tubulopathies are chronic diseases that have no known cure. They may lead to grave consequences that deeply affect the quality of life of the patient. An early diagnosis is a key lead to preventing and treating them. Some of the consequences of this type of illness may be, for example, a stunted growth, renal calculi, renal failure, dehydration and rickets. Current treatments try to compensate for the substances that patients lose in anomalous quantities through their urine. Sometimes, hormonal treatments are also employed. Every person diagnosed with some type of primary tubulopathy may participate in this clinical protal. To do so, the doctor in charge of each patient must register in RenalTube and answer a survey that covers several aspects of the clinical history of the patient. Moreover, they will have to send a blood sample to conduct the genetic study of the patient. Members of the research team: Fernando Santos (Area of Pediatrics of the HUCA and University of Oviedo) Eliecer Coto (Laboratory of Molecular Genetics of the HUCA and the University of Oviedo) María Victoria Álvarez (Laboratory of Molecular Genetics of the HUCA ) Helena Gil-Peña (University of Oviedo) Vanessa Loredo (University of Oviedo) Rocío Fuente (University of Oviedo) Julián Rodríguez (Area of Pediatrics of the HUCA and University of Oviedo) Flor Ángel Ordóñez (Area of Pediatrics of the HUCA) Enrique García (Area of Pediatrics of the HUCA) Eva Braga (Area of Pediatrics of the HUCA)


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