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
hsa04966  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: GB90.44
ICD-10: N25.8
MeSH: D000141
OMIM: 179800 267300 602722 611590
Reference
PMID:19721811
  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
PMID:11045400
  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
PMID:17557941
  Authors
Fry AC, Karet FE
  Title
Inherited renal acidoses.
  Journal
Physiology (Bethesda) 22:202-11 (2007)
DOI:10.1152/physiol.00044.2006
Reference
PMID:12138150
  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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Disease (4)   
   OMIM (4)   
Drug (1)   
   KEGG DRUG (1)   
Gene (6)   
   KEGG ORTHOLOGY (3)   
   KEGG GENES (3)   
Literature (8)   
   PubMed (8)   
All databases (19)   

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