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 | |
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. |
2. |
Kondo T et al. (1978) Inactive form of erythrocyte carbonic anhydrase B in patients with primary renal tubular acidosis. |
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. |
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. |
5. |
Chaabani H et al. (1994) The primary hereditary form of distal renal tubular acidosis: clinical and genetic studies in 60-member kindred. |
6. |
Coe FL et al. (1980) Stone disease in hereditary distal renal tubular acidosis. |
7. |
None (1967) Familial renal tubular acidosis revisited. |
8. |
None (1968) Familial renal tubular acidosis. |
10. |
None (1968) Familial renal tubular acidosis. |
11. |
McCurdy DK et al. (1968) Renal tubular acidosis due to amphotericin B. |
12. |
Buckalew VM et al. (1974) Hereditary renal tubular acidosis. Report of a 64 member kindred with variable clinical expression including idiopathic hypercalciuria. |
13. |
Richards P et al. (1972) Dominant inheritance in a family with familial renal tubular acidosis. |
14. |
Hamed IA et al. (1979) Familial absorptive hypercalciuria and renal tubular acidosis. |
15. |
Fry AC et al. (2007) Inherited renal acidoses. |
16. |
None (1992) What was wrong with Tiny Tim? |
17. |
OMIM.ORG article Omim 179800 |