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Distal Renal Tubular Acidosis

Inicio Tubulopathies Distal Renal Tubular Acidosis

Features

Chronic metabolic acidosis with hyperchloremia and normal anion gap. Urinary pH is usually over 5.5 although acidemia with normal glomerular function.

Clinical Manifestations

In children the clinical spectrum is nonspecific including anorexia, failure to thrive, vomiting and dehydration, constipation, polyuria, and polydipsia. Life-threatening acidosis may be present in the first weeks of life, but clinical manifestations usually develop after two years of age.

Diagnosis

Hyperchloremic metabolic acidosis, normo or hypokalemia, decreased titulable acidity in urine, hypercalciuria and/or hipocitraturia.

Genetics

There are more than 50 different mutations, the most relevant alterations of genes ATP6V1B1, ATP6V0A4, SLC4A1 and CA2. For the genetic study it will be necessary samples of the index case and the parents.

Treatment

Alkali therapy supplied as citrate or bicarbonate.

Prognosis

Hereditary dRTA is a permanent circumstance, with an excellent prognosis if therapy is established as soon as possible.

Complications

Chronic renal failure can be a complication of untreated nephrocalcinosis. Growth velocity and bone disease can be restored with an early, appropriate and consistent therapy.