KEGG   DISEASE: H00241Help
Entry
H00241                      Disease                                

Name
Combined proximal and distal renal tubular acidosis (RTA type 3)
Description
Renal tubular acidosis (RTA) is characterized by metabolic acidosis, a severe disturbance of extracellular pH homeostasis, due to renal impaired acid excretion. Type 3 RTA is a mixed type that shares the features of both proximal and distal lesions, with impaired proximal bicarbonate reabsorption coupled with an inability to acidify the urine maximally despite severe degrees of systemic acidemia. The condition is due to an inherited deficiency of carbonic anhydrase II (CAII) caused by a recessive mutation in the CA2 gene on chromosome 8q22.
Category
Urinary system disease
BRITE hierarchy
Pathway
Proximal tubule bicarbonate reclamation
Collecting duct acid secretion
Gene
CA2 [HSA:760] [KO:K01672]
Env factor
High salt intake
Marker
Plasma K+ [CPD:C00238]
Urinary anion gap [CPD:C01330 C00238 C00698]
Urine pH
Urinary NH4+
Drug
Intravenous potassium supplement
Sodium bicarbonate [D01203]
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
(marker)
  Authors
McPhee SJ, Papadakis MA (ed).
  Title
Current Medical Diagnosis & Treatment 2010, Forty-Ninth Edition
  Journal
The McGraw-Hill Companies, Inc. (2010)
Reference
PMID:17657093 (drug)
  Authors
Al-Ibrahim A, Al-Harbi M, Al-Musallam S
  Title
Paralysis Episodes in Carbonic Anhydrase II Deficiency.
  Journal
Saudi J Kidney Dis Transpl 14:70-4 (2003)

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