Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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.

Test Strategy

Before starting molecular testing you have to assess the type of renal tubular acidosis.

Symptoms

Hypercalciuria
Hypercalciuria in autosomal dominant distal renal tubular acidosis is an occasional not a typical finding.

Systematic

Renal tubular acidosis
Combined renal tubular acidosis 3 with osteopetrosis 3
Distal renal tubular acidosis (autosomal dominant)
SLC4A1
Distal renal tubular acidosis (autosomal recessive)
Distal renal tubular acidosis with deafness (autosomal recessive)
Proximal renal tubular acidosis
Renal tubular acidosis with arthrogryposis

References:

1.

Lewis DW et al. (1992) What was wrong with Tiny Tim?

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2.

RANDALL RE et al. (1961) Familial renal tubular acidosis.

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3.

Fry AC et. al. (2007) Inherited renal acidoses.

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4.

Hamed IA et al. (1979) Familial absorptive hypercalciuria and renal tubular acidosis.

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5.

Richards P et al. (1972) Dominant inheritance in a family with familial renal tubular acidosis.

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6.

Buckalew VM et al. (1974) Hereditary renal tubular acidosis. Report of a 64 member kindred with variable clinical expression including idiopathic hypercalciuria.

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7.

McCurdy DK et al. (1968) Renal tubular acidosis due to amphotericin B.

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8.

Buckalew VM et al. (1968) Familial renal tubular acidosis.

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9.

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.

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10.

Seedat YK et al. (1968) Familial renal tubular acidosis.

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11.

Randall RE et al. (1967) Familial renal tubular acidosis revisited.

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12.

Coe FL et al. (1980) Stone disease in hereditary distal renal tubular acidosis.

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13.

Chaabani H et al. (1994) The primary hereditary form of distal renal tubular acidosis: clinical and genetic studies in 60-member kindred.

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14.

Bruce LJ et al. (1997) Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene.

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15.

Karet FE et. al. (1998) Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis.

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16.

Kondo T et al. (1978) Inactive form of erythrocyte carbonic anhydrase B in patients with primary renal tubular acidosis.

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Update: Sept. 26, 2018