Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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 | |
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Hypercalciuria in autosomal dominant distal renal tubular acidosis is an occasional not a typical finding. |
| 1. |
RANDALL RE et al. (1961) Familial renal tubular acidosis. 
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| 2. |
Kondo T et al. (1978) Inactive form of erythrocyte carbonic anhydrase B in patients with primary renal tubular acidosis.
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| 3. |
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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| 4. |
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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| 5. |
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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| 6. |
Coe FL et al. (1980) Stone disease in hereditary distal renal tubular acidosis.
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| 7. |
None (1967) Familial renal tubular acidosis revisited.
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| 8. |
None (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. |
None (1968) Familial renal tubular acidosis.
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| 11. |
McCurdy DK et al. (1968) Renal tubular acidosis due to amphotericin B.
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| 12. |
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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| 13. |
Richards P et al. (1972) Dominant inheritance in a family with familial renal tubular acidosis.
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| 14. |
Hamed IA et al. (1979) Familial absorptive hypercalciuria and renal tubular acidosis.
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| 15. |
Fry AC et al. (2007) Inherited renal acidoses.
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| 16. |
None (1992) What was wrong with Tiny Tim?
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| 17. |
OMIM.ORG article Omim 179800
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