Genetic causes and mechanisms of distal renal tubular acidosis

Nephrology Dialysis Transplantation

Volumn 27, Issue 10, 2012, Pages 3691-3704

  Batlle, Daniel ^a   Haque, Syed K ^a  

^a NORTHWESTERN UNIVERSITY   (United States)

Author keywords

acidosis; AE1; carbonic anhydrase; distal RTA; H+ ATPase

Indexed keywords

ADENOSINE TRIPHOSPHATASE; ALKALI; AMILORIDE; AMMONIA; ANION EXCHANGER 1 PROTEIN; ANTIPORTER; BICARBONATE; CARBONATE DEHYDRATASE II; CELL PROTEIN; CITRATE POTASSIUM; CITRATE SALT; CITRATE SODIUM; FUROSEMIDE; GLYCOPHORIN A; HENSIN; SODIUM CHLORIDE; SODIUM SULFATE; UNCLASSIFIED DRUG;

AE1 GENE; AMINO ACID SUBSTITUTION; ANION GAP; ATP6V0A4 GENE; ATP6V1B1 GENE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; BIOLOGICAL MODEL; BONE DISEASE; BRAIN CALCIFICATION; CA II GENE; CALCIUM URINE LEVEL; CARBONATE DEHYDRATASE II DEFICIENCY; CELLULAR DISTRIBUTION; CHLORIDE TRANSPORT; CHRONIC KIDNEY FAILURE; COGNITIVE DEFECT; DIET SUPPLEMENTATION; DISEASE COURSE; DRUG ACTIVITY; DRUG MEGADOSE; ELECTROLYTE URINE LEVEL; ENZYME ACTIVITY; ENZYME DEFICIENCY; ETHNIC DIFFERENCE; FRAMESHIFT MUTATION; GENE; GENE EXPRESSION; GENE LOCATION; GENE LOCUS; GENETIC SCREENING; GOLGI COMPLEX; HEREDITY; HUMAN; HYPERCHLOREMIA; HYPOCITRATURIA; HYPOKALEMIA; KIDNEY CALCIFICATION; KIDNEY DISTAL TUBULE ACIDOSIS; KIDNEY TUBULE ACIDOSIS; METABOLIC ACIDOSIS; MISSENSE MUTATION; NEPHROLITHIASIS; NONHUMAN; OSTEOLYSIS; OSTEOPOROSIS; PERCEPTION DEAFNESS; PRIORITY JOURNAL; PROGNOSIS; PROTEIN DEGRADATION; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN METABOLISM; PROTEIN TARGETING; PROVOCATION TEST; REVIEW; URINE ACIDIFICATION; URINE PH; V ATPASE GENE;

ACID-BASE EQUILIBRIUM; ACIDOSIS, RENAL TUBULAR; ANIMALS; ANION EXCHANGE PROTEIN 1, ERYTHROCYTE; CARBONIC ANHYDRASE II; CARBONIC ANHYDRASES; DISEASE MODELS, ANIMAL; GENETIC TESTING; HEARING LOSS; HUMANS; MICE; MICE, KNOCKOUT; MODELS, BIOLOGICAL; MUTANT PROTEINS; MUTATION; OSTEOPETROSIS; UREA CYCLE DISORDERS, INBORN; VACUOLAR PROTON-TRANSLOCATING ATPASES;

EID: 84868561161     PISSN: 09310509     EISSN: 14602385     Source Type: Journal    
DOI: 10.1093/ndt/gfs442     Document Type: Review

References (92)

1. Batlle D, Kurtzman NA. Distal renal tubular acidosis: pathogenesis and classification. Am J Kidney Dis 1982; 1: 328-344
2. Batlle D, Ghanekar H, Jain S et al. Hereditary distal renal tubular acidosis: new understandings. Annu Rev Med 2001; 52: 471-484
3. Rodriguez Soriano J. Renal tubular acidosis: the clinical entity. J Am Soc Nephrol 2002; 13: 2160-2170
4. McSherry E, Sebastian A, Morris RC, Jr. Renal tubular acidosis in infants: the several kinds, including bicarbonate-wasting, classic renal tubular acidosis. J Clin Invest 1972; 51: 499-514
5. Fry AC, Karet FE. Inherited renal acidoses. Physiology (Bethesda) 2007; 22: 202-211
6. Alper SL. Familial renal tubular acidosis. J Nephrol 2010; 23(Suppl 16): S57-S76
7. Rubini ME. Water excrtion in potassium-deficient man. J Clin Invest 1961; 40: 2215-2224
8. Alper SL. Molecular physiology and genetics of Na+-independent SLC4 anion exchangers. J Exp Biol 2009; 212: 1672-1683
9. Batlle D, Moorthi KM, Schlueter Wet al. Distal renal tubular acidosis and the potassium enigma. Semin Nephrol 2006; 26: 471-478
10. Sebastian A, Schambelan M, Lindenfeld S et al. Amelioration of metabolic acidosis with fludrocortisone therapy in hyporeninemic hypoaldosteronism. N Engl J Med 1977; 297: 576-583
11. Batlle DC, Arruda JA, Kurtzman NA. Hyperkalemic distal renal tubular acidosis associated with obstructive uropathy. N Engl J Med 1981; 304: 373-380
12. Batlle D, Itsarayoungyuen K, Arruda JA et al. Hyperkalemic hyperchloremic metabolic acidosis in sickle cell hemoglobinopathies. Am J Med 1982; 72: 188-192
13. Batlle DC. Hyperkalemic hyperchloremic metabolic acidosis associated with selective aldosterone deficiency and distal renal tubular acidosis. Semin Nephrol 1981; 1: 260-273
14. Alper SL, Darman RB, Chernova MN et al. The AE gene family of Cl/HCO3? exchangers. J Nephrol 2002; 15(Suppl 5):S41-S53
15. Wagner S, Vogel R, Lietzke R et al. Immunochemical characterization of a band 3-like anion exchanger in collecting duct of human kidney. Am J Physiol 1987; 253: F213-F221
16. Schuster VL. Function and regulation of collecting duct intercalated cells. Annu Rev Physiol 1993; 55: 267-288
17. Alper SL, Natale J, Gluck S et al. Subtypes of intercalated cells in rat kidney collecting duct defined by antibodies against erythroid band 3 and renal vacuolar H+-ATPase. Proc Natl Acad Sci USA 1989; 86: 5429-5433
18. Bruce LJ, Cope DL, Jones GK et al. Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene. J Clin Invest 1997; 100: 1693-1707
19. Karet FE, Gainza FJ, Gyory AZ et al. Mutations in the chloridebicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis. Proc Natl Acad Sci USA 1998; 95: 6337-6342
20. Bruce LJ, Wrong O, Toye AM et al. Band 3 mutations, renal tubular acidosis and South-East Asian ovalocytosis in Malaysia and Papua New Guinea: loss of up to 95% band 3 transport in red cells. Biochem J 2000; 350(Pt 1): 41-51
21. Tanphaichitr VS, Sumboonnanonda A, Ideguchi H et al. Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A. J Clin Invest 1998; 102: 2173-2179
22. Kittanakom S, Cordat E, Akkarapatumwong V et al. Trafficking defects of a novel autosomal recessive distal renal tubular acidosis mutant (S773P) of the human kidney anion exchanger (kAE1). J Biol Chem 2004; 279: 40960-40971
23. Cheidde L, Vieira TC, Lima PR et al. A novel mutation in the anion exchanger 1 gene is associated with familial distal renal tubular acidosis and nephrocalcinosis. Pediatrics 2003; 112: 1361-1367
24. Jarolim P, Shayakul C, Prabakaran D et al. Autosomal dominant distal renal tubular acidosis is associated in three families with heterozygosity for the R589H mutation in the AE1 (band 3) Cl/HCO3 exchanger. J Biol Chem 1998; 273: 6380-6388
25. Shmukler BE, Kedar PS, Warang P et al. Hemolytic anemia and distal renal tubular acidosis in two Indian patients homozygous for SLC4A1/AE1 mutation A858D. Am J Hematol 2010; 85: 824-828
26. Jamard B, Allard J, Caron P et al. Distal renal tubular acidosis and ovalocytosis: a case report. Osteoporos Int 2008; 19: 119-122
27. Chang YH, Shaw CF, Jian SH et al. Compound mutations in human anion exchanger 1 are associated with complete distal renal tubular acidosis and hereditary spherocytosis. Kidney Int 2009; 76: 774-783
28. Ribeiro ML, Alloisio N, Almeida H et al. Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3. Blood 2000; 96: 1602-1604
29. Toye AM, Williamson RC, Khanfar M et al. Band 3 Courcouronnes (Ser667Phe): a trafficking mutant differentially rescued by wild-type band 3 and glycophorin A. Blood 2008; 111: 5380-5389
30. Chu C, Woods N, Sawasdee N et al. Band 3 Edmonton I, a novel mutant of the anion exchanger 1 causing spherocytosis and distal renal tubular acidosis. Biochem J 2009; 426: 379-388
31. Choo KE, Nicoli TK, Bruce LJ et al. Recessive distal renal tubular acidosis in Sarawak caused by AE1 mutations. Pediatr Nephrol 2006; 21: 212-217
32. Quilty JA, Li J, Reithmeier RA. Impaired trafficking of distal renal tubular acidosis mutants of the human kidney anion exchanger kAE1. Am J Physiol Renal Physiol 2002; 282: F810-F820
33. Cordat E, Kittanakom S, Yenchitsomanus PT et al. Dominant and recessive distal renal tubular acidosis mutations of kidney anion exchanger 1 induce distinct trafficking defects in MDCK cells. Traffic 2006; 7: 117-128
34. Williamson RC, Toye AM. Glycophorin A: Band 3 aid. Blood Cells Mol Dis 2008; 41: 35-43
35. Toye AM, Banting G, Tanner MJ. Regions of human kidney anion exchanger 1 (kAE1) required for basolateral targeting of kAE1 in polarised kidney cells: mis-targeting explains dominant renal tubular acidosis (dRTA). J Cell Sci 2004; 117: 1399-1410
36. Rungroj N, Devonald MA, Cuthbert AW et al. A novel missense mutation in AE1 causing autosomal dominant distal renal tubular acidosis retains normal transport function but is mistargeted in polarized epithelial cells. J Biol Chem 2004; 279: 13833-13838
37. Fry AC, Su Y, Yiu V et al. Mutation conferring apical-targeting motif on AE1 exchanger causes autosomal dominant distal RTA. J Am Soc Nephrol 2012; 23: 1238-1249
38. Sly WS, Hewett-Emmett D, Whyte MP et al. Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. Proc Natl Acad Sci USA 1983; 80: 2752-2756
39. Batlle DC. Segmental characterization of defects in collecting tubule acidification. Kidney Int 1986; 30: 546-554
40. Schwartz GJ, Tsuruoka S, Vijayakumar S et al. Acid incubation reverses the polarity of intercalated cell transporters, an effect mediated by hensin. J Clin Invest 2002; 109: 89-99
41. Purkerson JM, Tsuruoka S, Suter DZ et al. Adaptation to metabolic acidosis and its recovery are associated with changes in anion exchanger distribution and expression in the cortical collecting duct. Kidney Int 2010; 78: 993-1005
42. Gao X, Eladari D, Leviel F et al. Deletion of hensin/DMBT1 blocks conversion of beta-to alpha-intercalated cells and induces distal renal tubular acidosis. Proc Natl Acad Sci USA 2010; 107: 21872-21837
43. Breton S. The cellular physiology of carbonic anhydrases. JOP 2001; 2: 159-164
44. Baird TT, Jr, Waheed A, Okuyama Tet al. Catalysis and inhibition of human carbonic anhydrase IV. Biochemistry 1997; 36: 2669-2678
45. Schwartz GJ. Physiology and molecular biology of renal carbonic anhydrase. J Nephrol 2002; 15(Suppl 5): S61-S74
46. Purkerson JM, Schwartz GJ. The role of carbonic anhydrases in renal physiology. Kidney Int 2007; 71: 103-115
47. Sly WS, Sato S, Zhu XL. Evaluation of carbonic anhydrase isozymes in disorders involving osteopetrosis and/or renal tubular acidosis. Clin Biochem 1991; 24: 311-318
48. Shah GN, Bonapace G, Hu PY et al. Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation. Hum Mutat 2004; 24: 272
49. Fathallah DM, Bejaoui M, Lepaslier D et al. Carbonic anhydrase II (CA II) deficiency in Maghrebian patients: evidence for founder effect and genomic recombination at the CA II locus. Hum Genet 1997; 99: 634-637
50. Hu PY, Roth DE, Skaggs LA et al. A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis patients from Arabic countries. Hum Mutat 1992; 1: 288-292
51. Fathallah DM, Bejaoui M, Sly WS et al. A unique mutation underlying carbonic anhydrase II deficiency syndrome in patients of Arab descent. Hum Genet 1994; 94: 581-582
52. Bolt RJ, Wennink JM, Verbeke JI et al. Carbonic anhydrase type II deficiency. Am J Kidney Dis 2005; 46: A50, e71-e73
53. Whyte MP, Murphy WA, Fallon MD et al. Osteopetrosis, renal tubular acidosis and basal ganglia calcification in three sisters. Am J Med 1980; 69: 64-74
54. Strisciuglio P, Hu PY, Lim EJ et al. Clinical and molecular heterogeneity in carbonic anhydrase II deficiency and prenatal diagnosis in an Italian family. J Pediatr 1998; 132: 717-720
55. Guibaud P, Larbre F, Freycon MT et al. Osteopetrosis and renal tubular acidosis. 2 cases of this association in a sibship. Arch Fr Pediatr 1972; 29: 269-286
56. Vainsel M, Fondu P, Cadranel S et al. Osteopetrosis associated with proximal and distal tubular acidosis. Acta Paediatr Scand 1972; 61: 429-434
57. Borthwick KJ, Kandemir N, Topaloglu R et al. A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis. J Med Genet 2003; 40: 115-121
58. Muzalef A, Alshehri M, Al-Abidi A et al. Marble brain disease in two Saudi Arabian siblings. Ann Trop Paediatr 2005; 25: 213-218
59. Ismail EA, Abul Saad S, Sabry MA. Nephrocalcinosis and urolithiasis in carbonic anhydrase II deficiency syndrome. Eur J Pediatr 1997; 156: 957-962
60. Lotan D, Eisenkraft A, Jacobsson JM et al. Clinical and molecular findings in a family with the carbonic anhydrase II deficiency syndrome. Pediatr Nephrol 2006; 21: 423-426
61. Zakzouk SM, Sobki SH, Mansour F et al. Hearing impairment in association with distal renal tubular acidosis among Saudi children. J Laryngol Otol 1995; 109: 930-934
62. Blair HC, Teitelbaum SL, Ghiselli R et al. Osteoclastic bone resorption by a polarized vacuolar proton pump. Science 1989; 245: 855-857
63. Toei M, Saum R, Forgac M. Regulation and isoform function of the V-ATPases. Biochemistry 2010; 49: 4715-4723
64. Valles P, Batlle D. Kidney vacuolar H+-ATPase: physiology and regulation. H+-ATPase activated by glucose; a possible link to diabetic complications. Pan Stanford Publishing, 2012
65. Miranda KC, Karet FE, Brown D. An extended nomenclature for mammalian V-ATPase subunit genes and splice variants. PLoS One 2010; 5: e9531
66. Nishi T, Forgac M. The vacuolar (H+)-ATPases-nature's most versatile proton pumps. Nat Rev Mol Cell Biol 2002; 3: 94-103
67. Gu F, Gruenberg J. ARF1 regulates pH-dependent COP functions in the early endocytic pathway. J Biol Chem 2000; 275: 8154-8160
68. Hinton A, Sennoune SR, Bond S et al. Function of a subunit isoforms of the V-ATPase in pH homeostasis and in vitro invasion of MDA-MB231 human breast cancer cells. J Biol Chem 2009; 284: 16400-16408
69. Wagner CA, Finberg KE, Breton S et al. Renal vacuolar H+-ATPase. Physiol Rev 2004; 84: 1263-1314
70. Karet FE, Finberg KE, Nayir A et al. Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34. Am J Hum Genet 1999; 65: 1656-1665
71. Karet FE, Finberg KE, Nelson RD et al. Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. Nat Genet 1999; 21: 84-90
72. Joshua B, Kaplan DM, Raveh E et al. Audiometric and imaging characteristics of distal renal tubular acidosis and deafness. J Laryngol Otol 2008; 122: 193-198
73. Yashima T, Noguchi Y, Kawashima Y et al. Novel ATP6V1B1 mutations in distal renal tubular acidosis and hearing loss. Acta Otolaryngol 2010; 130: 1002-1008
74. Saito T, Hayashi D, Shibata S et al. Novel compound heterozygous ATP6V0A4 mutations in an infant with distal renal tubular acidosis. Eur J Pediatr 2010; 169: 1271-1273
75. Stover EH, Borthwick KJ, Bavalia C et al. Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. J Med Genet 2002; 39: 796-803
76. Fuster DG, Zhang J, Xie XS et al. The vacuolar-ATPase B1 subunit in distal tubular acidosis: novel mutations and mechanisms for dysfunction. Kidney Int 2008; 73: 1151-1158
77. Su Y, Blake-Palmer KG, Sorrell S et al. Human H+ ATPase a4 subunit mutations causing renal tubular acidosis reveal a role for interaction with phosphofructokinase-1. Am J Physiol Renal Physiol 2008; 295: F950-F958
78. Yang Q, Li G, Singh SK et al. Vacuolar H+-ATPase B1 subunit mutations that cause inherited distal renal tubular acidosis affect proton pump assembly and trafficking in inner medullary collecting duct cells. J Am Soc Nephrol 2006; 17: 1858-1866
79. Carboni I, Andreucci E, Caruso MR et al. Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes. Nephrol Dial Transplant 2009; 24: 2734-2738
80. Southgate CD, Chishti AH, Mitchell B et al. Targeted disruption of the murine erythroid band 3 gene results in spherocytosis and severe haemolytic anaemia despite a normal membrane skeleton. Nat Genet 1996; 14: 227-230
81. Stehberger PA, Shmukler BE, Stuart-Tilley AK et al. Distal renal tubular acidosis in mice lacking the AE1 (band3) Cl/HCO3 exchanger (slc4a1). J Am Soc Nephrol 2007; 18: 1408-1418
82. Finberg KE, Wagner CA, Bailey MA et al. The B1-subunit of the H (+) ATPase is required for maximal urinary acidification. Proc Natl Acad Sci USA 2005; 102: 13616-13621
83. Lewis SE, Erickson RP, Barnett LB et al. N-ethyl-N-nitrosoureainduced null mutation at the mouse Car-2 locus: an animal model for human carbonic anhydrase II deficiency syndrome. Proc Natl Acad Sci USA 1988; 85: 1962-1966
84. Marks SC, Jr. Pathogenesis of osteopetrosis in the microphthalmic mouse: reduced bone resorption. Am J Anat 1977; 149: 269-275
85. Lang F, Vallon V, Knipper M et al. Functional significance of channels and transporters expressed in the inner ear and kidney. Am J Physiol Cell Physiol 2007; 293: C1187-C1208
86. Ruf R, Rensing C, Topaloglu R et al. Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis. Pediatr Nephrol 2003; 18: 105-109
87. Smith AN, Skaug J, Choate KA et al. Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. Nat Genet 2000; 26: 71-75
88. Vargas-Poussou R, Houillier P, Le Pottier N et al. Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene. J Am Soc Nephrol 2006; 17: 1437-1443
89. Batlle DC, Hizon M, Cohen E et al. The use of the urinary anion gap in the diagnosis of hyperchloremic metabolic acidosis. N Engl J Med 1988; 318: 594-599
90. Schlueter W, Keilani T, Hizon M et al. On the mechanism of impaired distal acidification in hyperkalemic renal tubular acidosis: evaluation with amiloride and bumetanide. J Am Soc Nephrol 1992; 3: 953-964
91. Domrongkitchaiporn S, Khositseth S, Stitchantrakul Wet al. Dosage of potassium citrate in the correction of urinary abnormalities in pediatric distal renal tubular acidosis patients. Am J Kidney Dis 2002; 39: 383-391
92. Bajaj G, Quan A. Renal tubular acidosis and deafness: report of a large family. Am J Kidney Dis 1996; 27: 880-882