KEGG   DISEASE: 尿細管性アシドーシス
エントリ  
H02310                                                             
名称    
尿細管性アシドーシス
  下位グループ
尿細管性アシドーシス I 型 (遠位型) [DS:H00428]
尿細管性アシドーシス II 型 (近位型) [DS:H00429]
尿細管性アシドーシス III 型 [DS:H00241]
尿細管性アシドーシス IV 型 [DS:H00243]
概要    
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.
カテゴリ  
泌尿器系疾患
階層分類  
ヒト疾患 [BR:jp08402]
 泌尿器系疾患
  腎疾患
   H02310  尿細管性アシドーシス
ICD-11 による疾患分類 [BR:jp08403]
 16 泌尿生殖器系の疾患
  尿路系の疾患
   GB90  明示された腎または尿管の疾患
    H02310  尿細管性アシドーシス
パスウェイ 
hsa04964  Proximal tubule bicarbonate reclamation
hsa04966  Collecting duct acid secretion
hsa04960  Aldosterone-regulated sodium reabsorption
病因遺伝子 
(type 1) SLC4A1 [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]
リンク   
ICD-11: GB90.44
ICD-10: N25.8
MeSH: D000141
OMIM: 179800 267300 602722 604278 259730 264350 177735 145260
文献    
  著者
Pereira PC, Miranda DM, Oliveira EA, Silva AC
  タイトル
Molecular pathophysiology of renal tubular acidosis.
  雑誌
Curr Genomics 10:51-9 (2009)
DOI:10.2174/138920209787581262
LinkDB    

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