KEGG   DISEASE: 膀胱尿管逆流
エントリ  
H01037                                                             
名称    
膀胱尿管逆流
概要    
Vesicoureteral reflux (VUR) is the abnormal retrograde urinary flow from the bladder to the kidney that affects approximately 1% of the general population. It is associated with an increased risk of recurrent urinary tract infection, pyelonephritis, and renal scarring.
カテゴリ  
泌尿器系疾患
階層分類  
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
   腎尿細管間質性疾患
    GB56  閉塞性または逆流性腎症
     H01037  膀胱尿管逆流
パスウェイ 
hsa04512  ECM-receptor interaction
hsa04360  Axon guidance
hsa04310  Wnt signaling pathway
hsa04151  PI3K-Akt signaling pathway
病因遺伝子 
(VUR2) ROBO2 [HSA:6092] [KO:K06754]
(VUR3) SOX17 [HSA:64321] [KO:K04495]
(VUR8) TNXB [HSA:7148] [KO:K06252]
リンク   
ICD-11: GB56.5
MeSH: D014718
OMIM: 610878 613674 615963
文献    
  著者
Routh JC, Bogaert GA, Kaefer M, Manzoni G, Park JM, Retik AB, Rushton HG, Snodgrass WT, Wilcox DT
  タイトル
Vesicoureteral reflux: current trends in diagnosis, screening, and treatment.
  雑誌
Eur Urol 61:773-82 (2012)
DOI:10.1016/j.eururo.2012.01.002
文献    
  著者
Puri P, Gosemann JH, Darlow J, Barton DE
  タイトル
Genetics of vesicoureteral reflux.
  雑誌
Nat Rev Urol 8:539-52 (2011)
DOI:10.1038/nrurol.2011.113
文献    
  著者
Carvas F, Silva A, Nguyen HT
  タイトル
The genetics of primary, nonsyndromic vesicoureteral reflux.
  雑誌
Curr Opin Urol 20:336-42 (2010)
DOI:10.1097/MOU.0b013e328339b739
文献    
PMID:17357069 (ROBO2)
  著者
Lu W, van Eerde AM, Fan X, Quintero-Rivera F, Kulkarni S, Ferguson H, Kim HG, Fan Y, Xi Q, Li QG, Sanlaville D, Andrews W, Sundaresan V, Bi W, Yan J, Giltay JC, Wijmenga C, de Jong TP, Feather SA, Woolf AS, Rao Y, Lupski JR, Eccles MR, Quade BJ, Gusella JF, Morton CC, Maas RL
  タイトル
Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux.
  雑誌
Am J Hum Genet 80:616-32 (2007)
DOI:10.1086/512735
文献    
PMID:20960469 (SOX17)
  著者
Gimelli S, Caridi G, Beri S, McCracken K, Bocciardi R, Zordan P, Dagnino M, Fiorio P, Murer L, Benetti E, Zuffardi O, Giorda R, Wells JM, Gimelli G, Ghiggeri GM
  タイトル
Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract.
  雑誌
Hum Mutat 31:1352-9 (2010)
DOI:10.1002/humu.21378
文献    
PMID:23620400 (TNXB)
  著者
Gbadegesin RA, Brophy PD, Adeyemo A, Hall G, Gupta IR, Hains D, Bartkowiak B, Rabinovich CE, Chandrasekharappa S, Homstad A, Westreich K, Wu G, Liu Y, Holanda D, Clarke J, Lavin P, Selim A, Miller S, Wiener JS, Ross SS, Foreman J, Rotimi C, Winn MP
  タイトル
TNXB mutations can cause vesicoureteral reflux.
  雑誌
J Am Soc Nephrol 24:1313-22 (2013)
DOI:10.1681/ASN.2012121148
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