Renal tubular acidosis (RTA), a clinical syndrome with hyperchloremic metabolic acidosis with normal anion gap, is an uncommon and sometimes overlooked condition. It may have multiple causes, some sporadic, some genetically transmitted; some are isolated or may be associated with other renal or systemic pathologies or diseases. All these factors add to the complexity of recognition and management of this extended range of conditions. We hereby describe several children with different types of RTA, illustrating the different mode of presentations and some of the etiologies. Pathophysiology is reviewed, as well as the practical approach to the diagnosis and management. In addition, recent genetically identified conditions are reviewed, with emphasis on increasingly recognized association with other systems involvement.
- Renal tubular
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health