Article
Magni Giulia, Unwin Robert J, Moochhala Shabbir H
Archivos Españoles de Urología.
2021, 74(1):
123-128.
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Renal tubular acidosis (RTA) is a set of rare disorders in which the renal tubule is unable to excrete acid normally and thereby maintain normal acid-base balance, resulting in a complete or incomplete metabolic acidosis. In distal RTA (dRTA, also known as classical or type 1 RTA), there is a defect in excreting H+ ions along the distal nephron (distal tubule and collecting duct), leading to an alkaline urinary pH with calcium phosphate precipitation and stones. Causes of dRTA include genetic mutations, autoimmune disease, and some drugs.Clinical manifestations of the genetic forms of dRTA typically occur during childhood and may vary from mild clinical symptoms, such as a mild metabolic acidosis, hypokalaemia, and incidental detection of kidney stones, to more serious manifestations such as failure to thrive, severe metabolic acidosis, rickets and nephrocalcinosis. Progressive hearing loss may develop in patients with recessive dRTA, which, depending the causative gene mutation, can be present at birth or develop later in adolescence or early adulthood.Diagnosis of dRTA can be challenging, since it requires a high index of suspicion and/or measurement of urinary pH after an acid load, usually in the form of oral ammonium chloride; this should normally acidify the urine to pH below 5.3. In dRTA, urinary citrate levels are also low and patients are at increased risk of forming kidney stones from a combination of alkaline urine and low citrate. Ideally, affected patients need regular outpatient follow-up by a urologist and nephrologist. Thus, any patient found to have a calcium phosphate kidney stone, low urinary citrate, and raised urinary pH, especially with an early morning pH >5.5, should be evaluated for underlying dRTA. Patients with complete dRTA will have a low (<20 mmol/L) plasma or serum bicarbonate concentration, whereas in those with incomplete dRTA, bicarbonate levels are usually normal. Oral alkali as potassium citrate is still the mainstay of treatment in dRTA.