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KEGG   DISEASE: 動脈管開存症
エントリ  
H01630                                                             
名称    
動脈管開存症
概要    
Patent ductus arteriosus (PDA) is a common congenital heart defect with both inherited and acquired causes. The ductus arteriosus (DA) is a fetal specific vascular connection between the main pulmonary artery and the aorta. After birth, the DA normally closes within the first several days of life. If present after the age of 3 month, this condition is known as PDA. PDA can cause significant problems, especially in premature infants. It can be associated with an increased incidence of chronic lung disease, intraventricular hemorrhage, and necrotizing enterocolitis. Clinicians may choose to treat the PDA in an attempt to minimize the risk of these complications. Prostaglandin inhibition using indomethacin or ibuprofen is the standard strategy to close the DA. Surgical closure of the DA is an alternative option. Autosomal dominant forms of PDA caused by mutation in the TFAP2B and PRDM6 gene have been reported.
カテゴリ  
先天奇形
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 20 発達異常
  主に1つの体系に影響する構造的発達異常
   循環器系の構造的発達異常
    心臓または大血管の構造的発達異常
     LA8B  動脈管を含む大血管の先天異常
      H01630  動脈管開存症
病因遺伝子 
(PDA2) TFAP2B [HSA:7021] [KO:K09176]
(PDA3) PRDM6 [HSA:93166] [KO:K20795]
治療薬   
インドメタシンナトリウム水和物 [DR:D02110]
イブプロフェンL-リシン [DR:D06606]
リンク   
ICD-11: LA8B.4
MeSH: D004374
OMIM: 607411 617035 617039
文献    
  著者
Olsson KW, Jonzon A, Sindelar R
  タイトル
A high ductal flow velocity is associated with successful pharmacological closure of patent ductus arteriosus in infants 22-27 weeks gestational age.
  雑誌
Crit Care Res Pract 2012:715265 (2012)
DOI:10.1155/2012/715265
文献    
  著者
Li N, Subrahmanyan L, Smith E, Yu X, Zaidi S, Choi M, Mane S, Nelson-Williams C, Bahjati M, Kazemi M, Hashemi M, Fathzadeh M, Narayanan A, Tian L, Montazeri F, Mani M, Begleiter ML, Coon BG, Lynch HT, Olson EN, Zhao H, Ruland J, Lifton RP, Mani A
  タイトル
Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus.
  雑誌
Am J Hum Genet 98:1082-91 (2016)
DOI:10.1016/j.ajhg.2016.03.022
文献    
  著者
Ji W, Benson MA, Bhattacharya S, Chen Y, Hu J, Li F
  タイトル
Characterization of transcription factor AP-2 beta mutations involved in familial isolated patent ductus arteriosus suggests haploinsufficiency.
  雑誌
J Surg Res 188:466-72 (2014)
DOI:10.1016/j.jss.2014.01.015
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