KEGG   DISEASE: Renal tubular acidosisHelp
Entry
H02310                      Disease                                

Name
Renal tubular acidosis
  Subgroup
Distal renal tubular acidosis (RTA type 1) [DS:H00428]
Proximal renal tubular acidosis (RTA type 2) [DS:H00429]
Combined proximal and distal renal tubular acidosis [DS:H00241]
Hyperkalemic distal renal tubular acidosis (RTA type 4) [DS:H00243]
Description
Renal tubular acidosis (RTA) is characterized by metabolic acidosis, a severe disturbance of extracellular pH homeostasis, due to renal impaired acid excretion. RTA can be subcategorized into different disorders. Distal RTA (type 1) arises when the collecting duct fails to remove excess acid into the urine. Proximal RTA (type 2) is caused by an impairment of bicarbonate reabsorption in the proximal tubules. RTA type 3 is a mixed type that shares the features of both proximal and distal lesions. RTA type 4 is a heterogeneous group of disorders associated with hyperkalemia due to aldosterone deficiency or impairment in aldosterone molecular signaling.
Category
Urinary system disease
Brite
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
    H02310  Renal tubular acidosis
BRITE hierarchy
Pathway
hsa04964  Proximal tubule bicarbonate reclamation
hsa04966  Collecting duct acid secretion
hsa04960  Aldosterone-regulated sodium reabsorption
Gene
(type 1) SCL4A1 [HSA:6521] [KO:K06573]
(type 1) ATP6V1B1 [HSA:525] [KO:K02147]
(type 1) ATP6V0A4 [HSA:50617] [KO:K02154]
(type 2) SLC4A4 [HSA:8671] [KO:K13575]
(type 3) CA2 [HSA:760] [KO:K18245]
(type 4) SCNN1A [HSA:6337] [KO:K04824]
(type 4) SCNN1B [HSA:6338] [KO:K04825]
(type 4) SCNN1G [HSA:6340] [KO:K04827]
(type 4) NR3C2 [HSA:4306] [KO:K08555]
(type 4) WNK1 [HSA:65125] [KO:K08867]
(type 4) WNK4 [HSA:65266] [KO:K08867]
(type 4) KLHL3 [HSA:26249] [KO:K10443]
(type 4) CUL3 [HSA:8452] [KO:K03869]
Other DBs
ICD-11: GB90.44
ICD-10: N25.8
MeSH: D000141
OMIM: 179800 267300 602722 604278 259730 264350 177735 145260
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

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