Distal renal tubular acidosis (autosomal dominant)
Autosomal dominant renal tubular acidosis is caused by mutations of the SLC4A1 gene. The characteristic symptom is a mild metabolic acidosis caused by tubular dysfunction.
Before starting molecular testing you have to assess the type of renal tubular acidosis.
Hypercalciuria in autosomal dominant distal renal tubular acidosis is an occasional not a typical finding.
Lewis DW et al. (1992) What was wrong with Tiny Tim?[^]
RANDALL RE et al. (1961) Familial renal tubular acidosis.[^]
Fry AC et. al. (2007) Inherited renal acidoses.[^]
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Györy AZ et al. (1968) Renal tubular acidosis. A family with an autosomal dominant genetic defect in renal hydrogen ion transport, with proximal tubular and collecting duct dysfunction and increased metabolism of citrate and ammonia.[^]
Seedat YK et al. (1968) Familial renal tubular acidosis.[^]
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Coe FL et al. (1980) Stone disease in hereditary distal renal tubular acidosis.[^]
Chaabani H et al. (1994) The primary hereditary form of distal renal tubular acidosis: clinical and genetic studies in 60-member kindred.[^]
Bruce LJ et al. (1997) Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene.[^]
Karet FE et. al. (1998) Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis.[^]
Kondo T et al. (1978) Inactive form of erythrocyte carbonic anhydrase B in patients with primary renal tubular acidosis.[^]