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Renal tubular acidosis
Clinical feature:
Definition: The renal tubular acidosis is a metabolic acidosis with a relatively normal glomerular filtration rate, hyperchloremia and a normal plasma anion gap.
Pathogenesis: Very different defects in tubular transport, metabolism and signal transduction can result in renal tubular acidosis. The filtered bicarbonate reabsorbed fundamentally in the proximal tubule. This way defects in bicarbonate reabsorption are classified as proximal tubular acidosis. The acidification occurs in the distal nephron. That's why defects in acidification are called distal tubular acidosis.Of course there can be mixed forms. Defects in the adosterone signal transduction that result in hypoaldosteronism can cause the hypokalemic form of renal tubular acidosis.
Diagnostics:
Strategy: Before starting molecular testing you have to assess the type of renal tubular acidosis.
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