acidosi tubulari

Le acidosi tubulari

Renal tubular acidosis (RTA) refers to a group of disorders of multiple etiology characterised by a hyperchloremic, normal anion-gap metabolic acidosis caused by different defects affecting several mechanisms of urinary acidification: an impaired secretion of protons by collecting duct in distal hypokalemic RTA (type 1), impaired resorption of bicarbonate in proximal RTA (type 2), a … Leggi tutto

An expanded syndrome of dRTA with hearing loss, hyperoxaluria and beta2-microglobulinuria

We describe a 7-month-old male with atypical features of autosomal recessive distal renal tubular acidosis (dRTA) with sensorineural hearing loss. Uncharacteristically, he presented with mild acidosis, hypokalaemia and hypocalciuria as well as unilateral sensorineural hearing loss. Subsequent investigations led to the discovery of both hyperoxaluria and beta2-microglobulinuria, thereby expanding the differential diagnosis to include both … Leggi tutto

Renal Tubular Acidosis: The Clinical Entity

The term renal tubular acidosis (RTA) is applied to a group of transport defects in the reabsorption of bicarbonate (HCO3 ), the excretion of hydrogen ion (H), or both. This condition was first described in 1935 (1), confirmed as a renal tubular disorder in 1946 (2), and designated “renal tubular acidosis” in 1951 (3). The … Leggi tutto