Figure 1210

Renal tubular acidosis (RTA) is characterized by hyperchloremic metabolic acidosis caused by abnormalities in renal acidification, eg, decreased tubular reabsorption of bicarbonate or reduced urinary excretion of ammonium (NH4+). RTA can result from a number of disease processes involving either inherited or acquired defects. In addition, RTA may develop from an isolated defect in tubular transport; may involve multiple tubular transport abnormalities, eg, Fanconi's syndrome; or may be associated with a systemic disease process. Isolated proximal RTA (type II) is rare, and most cases of proximal RTA occur in the context of Fanconi's syndrome. Inherited forms of classic distal RTA (type I) are transmitted as both autosomal dominant and autosomal recessive traits. Inherited disorders in which RTA is the major clinical manifestation are summarized.

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