Renal tubular acidosis history and symptoms
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] ; Associate Editor(s)-in-Chief: Aditya Ganti M.B.B.S. [2]
Overview
History
Symptoms
The clinical manifestations of renal tubular acidosis depend upon the underlying etiology and type of acidosis. The recessive genetic forms present in infancy, the dominant form later in life, and acquired distal RTA may occur at any age based upon the timing of renal tubular injury.
Recessive form — As discussed previously, the recessive genetic form of RTA usually presents during infancy and generally is associated with severe clinical manifestations [2,19]. These findings include:
●Severe hyperchloremic metabolic acidosis (serum bicarbonate levels may decrease below 10 mEq/L)
●Moderate to severe hypokalemia (serum potassium ≤ 3.0 mEq/L)
●Nephrocalcinosis
●Vomiting
●Dehydration
●Poor growth
●Rickets
●Bilateral SNHL in some cases with mutations of the gene that encodes B1 subunit of the H-ATPase pump (see 'Genetic causes' above)
Dominant form — In comparison with recessive distal RTA, dominant distal RTA is usually associated with milder disease, and presents later in life (often in adolescence and adulthood). The most common initial finding is renal stone or nephrocalcinosis. Patients typically have mild or no acidosis, mild to moderate hypokalemia, and less commonly, poor growth [2,3,19]. Bone disease is a rare finding.
The clinical manifestations of dominant distal RTA were illustrated in a study of 18 patients from four families [3]. Ten patients had mild acidosis with serum bicarbonate levels that ranged from 15 to 21 mEq/L. The remaining eight patients had impaired urinary acidification, but were not acidotic (serum bicarbonate level ≥ 22 mEq/L). These patients were diagnosed with incomplete distal RTA. All patients with complete RTA had either renal stones or nephrocalcinosis. Only one patient had rickets; the rest of the cases had no evidence of bone disease. Twelve patients had normal serum potassium levels, five had mild/moderate hypokalemia (serum potassium levels between 3.0 to 3.4 mEq/L), and one patient had severe hypokalemia (serum potassium of 2.1 mEq/L). (See "Etiology and diagnosis of distal (type 1) and proximal (type 2) renal tubular acidosis", section on 'Incomplete distal RTA'.)
Chronic kidney disease — Chronic kidney disease (CKD), defined as a glomerular filtration rate of <90 cc/min per 1.73 m2, has been reported as a complication of hereditary distal RTA [2]. CKD presents after the pubertal growth spurt and is thought to be due to the combination of nephrocalcinosis, persistent hypokalemia, and repeated episodes of hypovolemia that results in progressive tubulointerstitial injury.