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KEGG

DISEASE: Distal renal tubular acidosis (RTA type 1)

Entry

H00428                      Disease

Name

Distal renal tubular acidosis (RTA type 1)

Supergrp

Renal tubular acidosis [DS:H02310]

Description

Renal tubular acidosis (RTA) is characterized by metabolic acidosis, a severe disturbance of extracellular pH homeostasis, due to renal impaired acid excretion. The distal type of RTA (dRTA) arises when the collecting duct fails to remove excess acid into the urine and is characterized by the inability to lower urine pH maximally (below 5.5) in the face of spontaneous acidemia or after acid loading. Autosomal-dominant and -recessive forms of dRTA are caused by mutations in ion transporters of the acid-secreting Type A intercalated cell of the renal collecting duct. These include the AE1 Cl-/HCO3- exchanger of the basolateral membrane and at least two subunits of the apical membrane vacuolar (v)H+-ATPase, the V1 subunit B1 (associated with deafness) and the V0 subunit a4.

Category

Urinary system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
16 Diseases of the genitourinary system
  Diseases of the urinary system
   GB90  Certain specified disorders of kidney or ureter
    H00428  Distal renal tubular acidosis (RTA type 1)

Pathway

Collecting duct acid secretion

Gene

(DRTA1/DRTA4) SLC4A1 [HSA:6521] [KO:K06573]
(DRTA2) ATP6V1B1 [HSA:525] [KO:K02147]
(DRTA3) ATP6V0A4 [HSA:50617] [KO:K02154]

Drug

Sodium bicarbonate [DR:D01203]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

179800 267300 602722 611590

Reference

Authors

Pereira PC, Miranda DM, Oliveira EA, Silva AC

Title

Molecular pathophysiology of renal tubular acidosis.

Journal

Curr Genomics 10:51-9 (2009)
DOI:10.2174/138920209787581262

Reference

Authors

Rodriguez-Soriano J

Title

New insights into the pathogenesis of renal tubular acidosis--from functional to molecular studies.

Journal

Pediatr Nephrol 14:1121-36 (2000)
DOI:10.1007/s004670000407

Reference

Authors

Fry AC, Karet FE

Title

Inherited renal acidoses.

Journal

Physiology (Bethesda) 22:202-11 (2007)
DOI:10.1152/physiol.00044.2006

Reference

Authors

Rodriguez Soriano J

Title

Renal tubular acidosis: the clinical entity.

Journal

J Am Soc Nephrol 13:2160-70 (2002)
DOI:10.1097/01.ASN.0000023430.92674.E5

Reference

PMID:9312167 (DRTA1)

Authors

Bruce LJ, Cope DL, Jones GK, Schofield AE, Burley M, Povey S, Unwin RJ, Wrong O, Tanner MJ

Title

Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene.

Journal

J Clin Invest 100:1693-707 (1997)
DOI:10.1172/JCI119694

Reference

PMID:9916796 (DRTA2)

Authors

Karet FE, Finberg KE, Nelson RD, Nayir A, Mocan H, Sanjad SA, Rodriguez-Soriano J, Santos F, Cremers CW, Di Pietro A, Hoffbrand BI, Winiarski J, Bakkaloglu A, Ozen S, Dusunsel R, Goodyer P, Hulton SA, Wu DK, Skvorak AB, Morton CC, Cunningham MJ, Jha V, Lifton RP

Title

Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness.

Journal

Nat Genet 21:84-90 (1999)
DOI:10.1038/5022

Reference

PMID:10973252 (DRTA3)

Authors

Smith AN, Skaug J, Choate KA, Nayir A, Bakkaloglu A, Ozen S, Hulton SA, Sanjad SA, Al-Sabban EA, Lifton RP, Scherer SW, Karet FE

Title

Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing.

Journal

Nat Genet 26:71-5 (2000)
DOI:10.1038/79208

Reference

PMID:9854053 (DRTA4)

Authors

Tanphaichitr VS, Sumboonnanonda A, Ideguchi H, Shayakul C, Brugnara C, Takao M, Veerakul G, Alper SL

Title

Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A.

Journal

J Clin Invest 102:2173-9 (1998)
DOI:10.1172/JCI4836

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