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
The pathophysiology of renal tubular acidosis (RTA) seems well worked out. Distal or type 1 renal tubular acidosis (dRTA)leads to positive proton balance,which results in decreased bone mineral density (BMD) and a urinary phenotype most consistent with calcium phosphate stone formation: hypocitraturia, hypercalciuria, and a high urine pH. Nephrocalcinosis and CKD are also seen. Proximal … Leggi tutto
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
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