What is it about?

This paper focuses on the diagnosis of the different types of primary renal tubular acidosis by reviewing the genetic basis of the disease, the characteristic clinical and biochemical manifestations and the renal functional tests that can be used.

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Why is it important?

The identification of metabolic acidosis in a child with failure to thrive often leads to the wrong diagnosis of distal renal tubular acidosis and to the subsequent long-term treament with alkali supplementation. This paper summarizes the bases for a correct diagnosis of primary renal tubular acidosis and describes the renal functional tests neded for the differentiiation among the four different types of the disease.

Perspectives

In some countries the diagnosis of renal tubular acidosis is not correctly made. Moreover, the analysis of clinical cases published in the literature discloses that important data for the diagnosis, such as the determination of urinary ammonium, are often missing. This paper must serve as a useful guide for the accurate diagnosis of renal tubular acidosis.

Prof Fernando F Santos
University of Oviedo

Read the Original

This page is a summary of: Clinical and laboratory approaches in the diagnosis of renal tubular acidosis, Pediatric Nephrology, April 2015, Springer Science + Business Media,
DOI: 10.1007/s00467-015-3083-9.
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