title: Renal tubular acidosis.
abstract: OBJECTIVE
  To facilitate the understanding and knowledge of renal tubular acidosis by providing a summarized information on the known clinical and biochemical characteristics of this group of diseases, by updating the genetic and molecular bases of the primary forms renal tubular acidosis and by examining some issues regarding the diagnosis of distal renal tubular acidosis (RTA) in the daily clinical practice.
  
  
  RESULTS
  The manuscript presents recent findings on the potential of next-generation sequencing to disclose new pathogenic variants in patients with a clinical diagnosis of primary RTA and negative Sanger sequencing of known genes. The current review emphasizes the importance of measuring urinary ammonium for a correct clinical approach to the patients with metabolic acidosis and discusses the diagnosis of incomplete distal RTA.
  
  
  CONCLUSIONS
  We briefly update the current information on RTA, put forward the need of additional studies in children to validate urinary indexes used in the diagnosis of RTA and offer a perspective on diagnostic genetic tests.
authors.affiliation: aDepartment of Pediatrics, Hospital Universitario Central de Asturias bÁrea de Pediatría, Dpto. de Medicina, Universidad de Oviedo, Oviedo, Spain.
authors.forename: Fernando
authors.initials: F
authors.lastname: Santos
authors.forename: Helena
authors.initials: H
authors.lastname: Gil-Peña
authors.forename: Silvia
authors.initials: S
authors.lastname: Alvarez-Alvarez
mesh_terms: D000141:Acidosis, Renal Tubular / Q000235:genetics* / Q000503:physiopathology* / Q000628:therapy; D064751:Ammonium Compounds / Q000652:urine*; D002648:Child; D002675:Child, Preschool; D018450:Disease Progression; D005260:Female; D006801:Humans; D007668:Kidney / Q000503:physiopathology*; D008297:Male; D011379:Prognosis; D018570:Risk Assessment
chemical_list: D064751:Ammonium Compounds