Renal tubular acidosis is characterized by the presence of normal anion gap metabolic acidosis due to decreased renal bicarbonate reabsorption and/or decreased hydrogen ion excretion. There are also presentations where
the patient’s acid-base balance is normal under physiological conditions. It can occasionally be associated with the development of renal lithiasis. Four types of RTA have been described: distal (type 1), proximal (type 2), mixed (type 3), and hyperkalemic (type 4). It may have a syndromic presentation: with sensorineural hearing loss (type 1); eye
abnormalities (type 2); Fanconi syndrome (type 2); and osteopetrosis, brain calcifications, nephrocalcinosis, facial dysmorphism, conductive hearing loss, and cognitive deficit (type 3).
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