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Renal tubular acidosis causes

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] ; Associate Editor(s)-in-Chief: Aditya Ganti M.B.B.S. [2] Jogeet Singh Sekhon, M.D. [3] Syed Ahsan Hussain, M.D.[4]

Ovevriew

Primary causes of renal tubular acidosis include genetic mutations causing defects in the kidney anion exchanger [kAE1] in distal tubule intercalated cells and congenital adrenal hyperplasia. Secondary causes include medications and autoimmune diseases.

Causes

The following table summarizes the common primary and secondary causes of renal tubular acidosis.[1][2][3]

Primary Causes Secondary Causes
Type 1
  • Familial
    • Autosomal dominant
      • Mainly due to mutations causing defects in the kidney anion exchanger [kAE1] in distal tubule intercalated cells.
  • Autosomal recessive
    • Mainly due to mutations causing defects in V-ATPase in distal tubule intercalated cells.
Type 2
Type 4

References

  1. 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.
  2. 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.
  3. Alper SL (2010). “Familial renal tubular acidosis”. J. Nephrol. 23 Suppl 16: S57–76. PMID 21170890.

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