KEGG   DISEASE: 尿細管性アシドーシス IV 型
尿細管性アシドーシス IV 型
偽性低アルドステロン症 I 型 (PHA1)
偽性低アルドステロン症 II 型 (PHA2)
尿細管性アシドーシス [DS:H02310]
Renal tubular acidosis (RTA) is characterized by metabolic acidosis, a severe disturbance of extracellular pH homeostasis, due to renal impaired acid excretion. Type 4 RTA is a heterogeneous group of disorders associated with hyperkalemia due to aldosterone deficiency or impairment in aldosterone molecular signaling. Primary pseudohypoaldosteronism type 1 (PHA1) is characterized by salt-wasting, hyperkalemia, and metabolic acidosis in the presence of markedly elevated plasma renin activity and aldosterone concentration. In the autosomal dominant form, aldosterone resistance is due to heterozygous mutations in the mineralocorticoid receptor gene. In the autosomal recessive form, aldosterone resistance is caused by loss-of-function homozygous mutations in the genes encoding one of the three constitutive subunits (alpha, beta, and gamma) of the epithelial Na+ channel (SCNN1A, SCNN1B, and SCNN1G). Other inherited cause of type 4 RTA includes hyperkalaemia associated with hypertension and low or normal levels of plasma aldosterone. This syndrome is called pseudohypoaldosteronism type 2 (PHA2), or Gordon's syndrome, which results in a renal aldosterone resistance. Mutations in the genes encoding WNK1 and WNK4 kinases (WNK1 and WNK4), which regulate ion-transporters on renal tubules, were identified in patients with PHA2. Acquired hyperkalemic RTA is observed in the context of mineralocorticoid deficiency, systemic lupus erythematosus, and AIDS nephropathy. It is also often seen in a number of tubulointerstitial renal diseases. Finally, a great number of drugs may induce hyperkalemic RTA.
ヒト疾患 [BR:jp08402]
   H00243  尿細管性アシドーシス IV 型
ICD-11 による疾患分類 [BR:jp08403]
 16 泌尿生殖器系の疾患
   GB90  明示された腎または尿管の疾患
    H00243  尿細管性アシドーシス IV 型
hsa04960  Aldosterone-regulated sodium reabsorption
(PHA1A) NR3C2 [HSA:4306] [KO:K08555]
(PHA1B) SCNN1A [HSA:6337] [KO:K04824]
(PHA1B) SCNN1B [HSA:6338] [KO:K04825]
(PHA1B) SCNN1G [HSA:6340] [KO:K04827]
(PHA2B) WNK4 [HSA:65266] [KO:K08867]
(PHA2C) WNK1 [HSA:65125] [KO:K08867]
(PHA2D) KLHL3 [HSA:26249] [KO:K10443]
(PHA2E) CUL3 [HSA:8452] [KO:K03869]
ICD-11: GB90.44
ICD-10: N25.8
MeSH: D011546
OMIM: 264350 177735 145260 614491 614492 614495 614496
Pereira PC, Miranda DM, Oliveira EA, Silva AC
Molecular pathophysiology of renal tubular acidosis.
Curr Genomics 10:51-9 (2009)
Rodriguez-Soriano J
New insights into the pathogenesis of renal tubular acidosis--from functional to molecular studies.
Pediatr Nephrol 14:1121-36 (2000)
PMID:12138150 (NR3C2, SCNN1A, SCNN1B, SCNN1G)
Rodriguez Soriano J
Renal tubular acidosis: the clinical entity.
J Am Soc Nephrol 13:2160-70 (2002)
PMID:11498583 (WNK1,WNK4)
Wilson FH, Disse-Nicodeme S, Choate KA, Ishikawa K, Nelson-Williams C, Desitter I, Gunel M, Milford DV, Lipkin GW, Achard JM, Feely MP, Dussol B, Berland Y, Unwin RJ, Mayan H, Simon DB, Farfel Z, Jeunemaitre X, Lifton RP
Human hypertension caused by mutations in WNK kinases.
Science 293:1107-12 (2001)
PMID:22266938 (KLHL3, CUL3)
Boyden LM, Choi M, Choate KA, Nelson-Williams CJ, Farhi A, Toka HR, Tikhonova IR, Bjornson R, Mane SM, Colussi G, Lebel M, Gordon RD, Semmekrot BA, Poujol A, Valimaki MJ, De Ferrari ME, Sanjad SA, Gutkin M, Karet FE, Tucci JR, Stockigt JR, Keppler-Noreuil KM, Porter CC, Anand SK, Whiteford ML, Davis ID, Dewar SB, Bettinelli A, Fadrowski JJ, Belsha CW, Hunley TE, Nelson RD, Trachtman H, Cole TR, Pinsk M, Bockenhauer D, Shenoy M, Vaidyanathan P, Foreman JW, Rasoulpour M, Thameem F, Al-Shahrouri HZ, Radhakrishnan J, Gharavi AG, Goilav B, Lifton RP
Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.
Nature 482:98-102 (2012)

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