KEGG   DISEASE: H00429Help
Entry
H00429                      Disease                                

Name
Proximal renal tubular acidosis (RTA type 2)
Description
Renal tubular acidosis (RTA) is characterized by metabolic acidosis, a severe disturbance of extracellular pH homeostasis, due to renal impaired acid excretion. Proximal RTA (type 2) is caused by an impairment of bicarbonate reabsorption in the proximal tubules, resulting in low renal bicarbonate threshold. Mutations in the gene SLC4A4, encoding Na+-HCO3- cotransporter (NBC-1), have been found in proximal RTA.
Category
Urinary system disease
BRITE hierarchy
Pathway
Proximal tubule bicarbonate reclamation
Gene
SLC4A4 [HSA:8671] [KO:K13575]
Env factor
Acetazolamide [DR:D00218]
Outdated tetracycline
Aminoglycoside antibiotics
Valproate
6-Mercaptopurine [DR:D00161 D04931]
Streptozotocin [DR:D05932]
Iphosphamide
Lead
Cadmium [CPD:C01413]
Mercury [DR:D04934]
Arginine [DR:D02982]
Gentamicin [DR:D08013]
Glue(toluene) [CPD:C01455]
Maleic acid [CPD:C01384]
Methyl-3-chromone
Marker
Plasma K+ [CPD:C00238]
Urinary anion gap [CPD:C01330 C00238 C00698]
Urine pH
Drug
Sodium bicarbonate [DR:D01203]
Potassium bicarbonate [DR:D02077]
Thiazide
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
PMID:11045400 (gene)
  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)
Reference
PMID:17557941 (gene)
  Authors
Fry AC, Karet FE
  Title
Inherited renal acidoses.
  Journal
Physiology (Bethesda) 22:202-11 (2007)
Reference
PMID:12138150 (gene, env_factor, marker)
  Authors
Rodriguez Soriano J
  Title
Renal tubular acidosis: the clinical entity.
  Journal
J Am Soc Nephrol 13:2160-70 (2002)
Reference
PMID:11095551 (env_factor, drug)
  Authors
Kurtzman NA
  Title
Renal tubular acidosis syndromes.
  Journal
South Med J 93:1042-52 (2000)
Reference
(marker, drug)
  Authors
McPhee SJ, Papadakis MA (ed).
  Title
Current Medical Diagnosis & Treatment 2010, Forty-Ninth Edition
  Journal
The McGraw-Hill Companies, Inc. (2010)

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