Un caso de acidosis tubular renal distal con sordera
- Arango Sancho, Pedro
- Gil Peña, Helena
- Tripodi, Cinzia
- Luis Yanes, María I.
- Santos Rodríguez, Fernando
- García Nieto, Víctor Manuel
ISSN: 1131-6128
Year of publication: 2014
Volume: 38
Issue: 1
Pages: 15-21
Type: Article
More publications in: Canarias Pediátrica
Abstract
Renal tubular acidosis (RTA) is a clinical syndrome of hyperchloremic metabolic acidosis caused by a defect in the renal reabsorption its variant with deafness. of bicarbonate and/or urinary excretion of hydrogen ion (H+). Its aetiology is varied; with the �¿-intercalated cell structure on which the alteration will lead to different ion triggers metabolic changes responsible for the clinical situation of the disease occurs. In severe cases it can be accompanied by nephrocalcinosis and development of different degrees of renal failure, end possibly preventable with early diagnosis and treatment with alkalizing as potassium citrate. Therefore, knowledge of their symptoms and therapeutic options are very important. Since 1976, Drs. Banares Baudet and Rodriguez Hernandez published in this journal the first case of tubulopathy described in the Canary Islands, a 14 year old male diagnosed of distal renal tubular acidosis, has been progress in the understanding of the disease with the discovery of the genetic basis point highlights . Now, almost 40 years later, we honour them by presenting a case of an infant of 4 months old with the same disease, in association with