The Renal Tubular Acidoses

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Alpern RJ. Cell mechanisms of proximal tubule acidification. Physiol Rev 1990; 70: 79–114

Amemiya M. , Loffing J. , Lotscher M. Expression of NHE-3 in the apical membrane of rat renal proximal tubule and thick ascending limb. Kidney Int 1995; 48: 1206–15

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Gluck S.L. , Underhill D.M. , Iyori M. , Halliday L.S. , Kostrominova T.Y. , Lee BS. Physiology and biochemistry of the kidney vacuolar H⁺ATPase. Annu Rev Physiol 1996; 58: 427–45

Cohen E.P. , Bastani B. , Cohen M.R. , Kolner S. , Hemken P. , Gluck SL. Absence of H(+)ATPase in cortical collecting tubules of a patient with Sjogren's syndrome and distal renal tubular acidosis. J Am Soc Nephrol 1992; 3: 264–71

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Karet F.E. , Finberg K.E. , Nelson R.D. Mutations in the gene encoding BI subunit of H⁺-ATPase cause renal tubular acidosis with sensorineural deafness. Nat Genet 1999; 21: 84–90

Smith A.N. , Skaug J. , Choate K.A. Mutations in ATP6NIB, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. Nat Genet 2000; 26: 71–5

Karet F.E. , Gainza F.J. , Gyory A.Z. Mutations in the chloride–bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis. Proc Natl Acad Sci USA 1998; 95: 6337–42

Bruce L.J. , Cope D.L. , Jones G.K. Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene. J Clin Invest 1997; 100: 1693–707

Jarolim P. , Shayakul C. , Prabakaran D. Autosomal dominant distal renal tubular acidosis is associated in three families with heterozygosity for the R589H mutation in the AE1 (band 3) Cl-/HC03-exchanger. J Biol Chem 1998; 273: 6380–8

Tamphaichitr V.S. , Sumboonnanonda A. , Ideguchi H. Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A. J Clin Invest 1998; 102: 2173–9

Igarashi T. , Inatomi J. , Sekine T. Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities. Nat Genet 1999; 23: 264–6

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Wrong O.M. , Feest TG. The natural history of distal renal tubular acidosis. Contrib Nephrol 1980; 21: 137–44

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DeFranco P.E. , Haragsim L. , Schmitz P.G. , Bastania B. Absence of vacuolar H(+)-ATPase pump in the collecting duct of a patient with hypokalemic distal renal tubular acidosis and Sjogren's syndrome. J Am Soc Nephrol 1995; 6: 295–301

Hamm LL. Renal handling of citrate. Kidney Int 1990; 38: 728–35

Richards P. , Chamberlain M.J. , Wrong OM. Treatment of osteomalacia of renal tubular acidosis by sodium bicarbonate alone. Lancet 1972; ii: 994–7

Lloyd S.E. , Pearce S.H. , Fisher S.E. A common molecular basis for three inherited kidneystone diseases. Nature 1996; 379: 445–9

Nielsen S. , Kwon T.H. , Christensen B.M. , Promeneur D. , Frokiaer J. , Marples D. Physiology and pathophysiology of renal aquaporins. J Am Soc Nephrol 1999; 10: 647–63

Lai L.W. , Chan D.M. , Erickson R.P. , Hsu S.J. , Lien YH. Correction of renal tubular acidosis in carbonic anhydrase II-deficient mice with gene therapy. J Clin Invest 1998; 101: 1320–5

Lien Y.H. , Lai LW. Liposome-mediated gene transfer into the tubules. Exp Nephrol 1997; 5: 132–6