KEGG   DISEASE: Combined proximal and distal renal tubular acidosis (RTA type 3)
Entry
H00241                      Disease                                
Name
Combined proximal and distal renal tubular acidosis (RTA type 3)
  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. RTA type 3 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
Human diseases [BR:br08402]
 Urinary system diseases
  Kidney diseases
   H00241  Combined proximal and distal renal tubular acidosis (RTA type 3)
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
    H00241  Combined proximal and distal renal tubular acidosis (RTA type 3)
Pathway
hsa04964  Proximal tubule bicarbonate reclamation
hsa04966  Collecting duct acid secretion
hsa04976  Bile secretion
Gene
CA2 [HSA:760] [KO:K18245]
Drug
Sodium bicarbonate [DR:D01203]
Other DBs
ICD-11: GB90.44
ICD-10: N25.8
MeSH: D000141
OMIM: 259730
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 (CA2)
  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:12566520 (CA2)
  Authors
Borthwick KJ, Kandemir N, Topaloglu R, Kornak U, Bakkaloglu A, Yordam N, Ozen S, Mocan H, Shah GN, Sly WS, Karet FE
  Title
A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis.
  Journal
J Med Genet 40:115-21 (2003)
DOI:10.1136/jmg.40.2.115
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