Abstract
In this article, we discuss the current views on the renal regulation of acid-base metabolism and the diagnostic approach to children with metabolic acidosis, including the major characteristics of the different types of renal tubular acidosis (RTA), focusing on distal RTA (dRTA). We update progress in identifying the underlying defective transporters and gene mutations responsible for the primary forms, suggest candidate genes possibly involved in some cases, discuss the mechanisms causing growth retardation and disordered mineral metabolism, and provide the basis for differential diagnosis with other types of primary RTA.
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