Urinary citrate excretion in the diagnosis of distal renal tubular acidosis.
Since hypocitraturia in distal renal tubular acidosis, we screened the asymptomatic children in three families with familial dRTA, by comparing their 24-hour urine citrate excretion to values obtained in 45 normal children. Subsequent acid loading uncovered four new cases of dRTA suspected because of the finding of hypocitraturia. Because hypocitraturia probably contributes to nephrolithiasis/nephrocalcinosis and subsequent renal damage in dRTA, affected family members were treated with alkali (4 mEq/kg/day), which normalized urine citrate in three children; in a fourth child citrate excretion rose but was not normal. Measurement of urine citrate excretion was superior to other currently proposed screening tests for dRTA (first morning urine pH and sediment, urine concentration).
D000141:Acidosis, Renal Tubular / Q000175:diagnosis* / Q000235:genetics / Q000652:urine; D000328:Adult; D002648:Child; D002951:Citrates / Q000652:urine*; D005260:Female; D006801:Humans; D007686:Kidney Tubules, Distal; D008297:Male
D002951:Citrates