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 [BR:br08402]
 Urinary system diseases
  Kidney diseases
   H00428  Distal renal tubular acidosis (RTA type 1)
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
SLC4A1 [HSA:6521] [KO:K06573]
ATP6V1B1 [HSA:525] [KO:K02147]
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
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
PMID:12138150 (SLC4A1, ATP6V1B1, ATP6V0A4)
  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
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