KEGG   DISEASE: Proximal renal tubular acidosis (RTA type 2)
Entry
H00429                      Disease                                
Name
Proximal renal tubular acidosis (RTA type 2)
  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. 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
Human diseases [BR:br08402]
 Urinary system diseases
  Kidney diseases
   H00429  Proximal renal tubular acidosis (RTA type 2)
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
    H00429  Proximal renal tubular acidosis (RTA type 2)
Pathway
hsa04964  Proximal tubule bicarbonate reclamation
Gene
SLC4A4 [HSA:8671] [KO:K13575]
Drug
Sodium bicarbonate [DR:D01203]
Other DBs
ICD-11: GB90.44
ICD-10: N25.8
MeSH: D000141
OMIM: 604278
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 (SLC4A4)
  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:10545938 (SLC4A4)
  Authors
Igarashi T, Inatomi J, Sekine T, Cha SH, Kanai Y, Kunimi M, Tsukamoto K, Satoh H, Shimadzu M, Tozawa F, Mori T, Shiobara M, Seki G, Endou H
  Title
Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities.
  Journal
Nat Genet 23:264-6 (1999)
DOI:10.1038/15440
LinkDB

» Japanese version

DBGET integrated database retrieval system