Distal renal tubular acidosis: a systematic approach from diagnosis to treatment

Sabrina Giglio, Giovanni Montini, Francesco Trepiccione, Giovanni Gambaro, Francesco Emma

Research output: Contribution to journalReview articlepeer-review

Abstract

Renal tubular acidosis (RTA) comprises a group of disorders in which excretion of hydrogen ions or reabsorption of filtered HCO3 is impaired, leading to chronic metabolic acidosis with normal anion gap. In the current review, the focus is placed on the most common type of RTA, Type 1 RTA or Distal RTA (dRTA), which is a rare chronic genetic disorder characterized by an inability of the distal nephron to secrete hydrogen ions in the presence of metabolic acidosis. Over the years, knowledge of the molecular mechanisms behind acid secretion has improved, thereby greatly helping the diagnosis of dRTA. The primary or inherited form of dRTA is mostly diagnosed in infancy, childhood, or young adulthood, while the acquired secondary form, as a consequence of other disorders or medications, can happen at any age, although it is more commonly seen in adults. dRTA is not as “benign” as previously assumed, and can have several, highly variable long-term consequences. The present review indeed reports and summarizes both clinical symptoms and diagnosis, long-term outcomes, genetic inheritance, epidemiology and current treatment options, with the aim of shedding more light onto this rare disorder. Being a chronic condition, dRTA also deserves attention in the transition between pediatric and adult nephrology care, and as a rare disease it has a place in the European and Italian rare nephrological diseases network.

Original languageEnglish
JournalJournal of Nephrology
DOIs
Publication statusAccepted/In press - 2021

Keywords

  • Alkali treatment
  • Molecular genetic test
  • Nephrology
  • Rare disease
  • Tubulopathy
  • Type 1 Distal RTA (dRTA)

ASJC Scopus subject areas

  • Nephrology

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