Renal tubular acidosis causes: Difference between revisions
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{{Renal tubular acidosis}} | {{Renal tubular acidosis}} | ||
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=== Genetic causes === | |||
{| class="wikitable" | |||
! colspan="2" |Type of RTA | |||
!Gene | |||
!Gene location | |||
!Protein | |||
|- | |||
| rowspan="3" |Type 1 (distal) RTA | |||
|Autosomal recessive with deafness | |||
|''ATP6V1B1'' | |||
|2p13 | |||
|B1 subunit of H-ATPase | |||
|- | |||
|Autosomal recessive without deafness | |||
|''ATP6V0A4'' | |||
|7q33-q34 | |||
|a4 subunit of H-ATPase | |||
|- | |||
|Autosomal dominant | |||
|''SLC4A1'' | |||
|17q21-q22 | |||
|Chloride-bicarbonate exchanger | |||
|- | |||
|Type 2 (proximal) RTA | |||
|Autosomal recessive | |||
|''SLC4A4'' | |||
|4q21 | |||
|Sodium bicarbonate cotransporter | |||
|- | |||
|Type 3 (mixed) RTA | |||
|Autosomal recessive | |||
|Carbonic anhydrase II | |||
|8q22 | |||
|Carbonic anhydrase II | |||
|} | |} | ||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} |
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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]
Ovevriew
Causes
The following table summarizes the common primary and secondary causes of renal tubular acidosis.[1][2][3]
Primary Causes | Secondary Causes | |
---|---|---|
Type 1 |
|
|
Type 2 |
|
|
Type 4 |
|
Genetic causes
Type of RTA | Gene | Gene location | Protein | |
---|---|---|---|---|
Type 1 (distal) RTA | Autosomal recessive with deafness | ATP6V1B1 | 2p13 | B1 subunit of H-ATPase |
Autosomal recessive without deafness | ATP6V0A4 | 7q33-q34 | a4 subunit of H-ATPase | |
Autosomal dominant | SLC4A1 | 17q21-q22 | Chloride-bicarbonate exchanger | |
Type 2 (proximal) RTA | Autosomal recessive | SLC4A4 | 4q21 | Sodium bicarbonate cotransporter |
Type 3 (mixed) RTA | Autosomal recessive | Carbonic anhydrase II | 8q22 | Carbonic anhydrase II |
References
- ↑ Haque SK, Ariceta G, Batlle D (December 2012). "Proximal renal tubular acidosis: a not so rare disorder of multiple etiologies". Nephrol. Dial. Transplant. 27 (12): 4273–87. doi:10.1093/ndt/gfs493. PMC 3616759. PMID 23235953.
- ↑ Batlle D, Haque SK (October 2012). "Genetic causes and mechanisms of distal renal tubular acidosis". Nephrol. Dial. Transplant. 27 (10): 3691–704. doi:10.1093/ndt/gfs442. PMID 23114896.
- ↑ Alper SL (2010). "Familial renal tubular acidosis". J. Nephrol. 23 Suppl 16: S57–76. PMID 21170890.