先天性肝腎不全
WordNet
- (medicine) any disturbance in the functioning of an organ or body part or a disturbance in the functioning of a social group; "erectile dysfunction"; "sexual relationship dysfunction" (同)disfunction
PrepTutorEJDIC
- 機能障害,機能不全
- 生まれつきの,先天的な
UpToDate Contents
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English Journal
- Clinical manifestations of autosomal recessive polycystic kidney disease.
- Hoyer PF1.
- Current opinion in pediatrics.Curr Opin Pediatr.2015 Apr;27(2):186-92. doi: 10.1097/MOP.0000000000000196.
- PURPOSE OF REVIEW: To describe the recent increase in the understanding of the clinical manifestation of autosomal recessive polycystic kidney disease (ARPKD), which is caused by mutations in the PKHD1 gene. The change in nomenclature reflects the genetic contribution to the understanding of pleiotr
- PMID 25689455
- Autosomal recessive polycystic kidney disease: a hepatorenal fibrocystic disorder with pleiotropic effects.
- Hartung EA1, Guay-Woodford LM2.
- Pediatrics.Pediatrics.2014 Sep;134(3):e833-45. doi: 10.1542/peds.2013-3646. Epub 2014 Aug 11.
- Autosomal recessive polycystic kidney disease (ARPKD) is an important cause of chronic kidney disease in children. The care of ARPKD patients has traditionally been the realm of pediatric nephrologists; however, the disease has multisystem effects, and a comprehensive care strategy often requires a
- PMID 25113295
- Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.
- Mayorandan S1, Meyer U2, Gokcay G3, Segarra NG4, de Baulny HO5, van Spronsen F6, Zeman J7, de Laet C8, Spiekerkoetter U9, Thimm E10, Maiorana A11, Dionisi-Vici C12, Moeslinger D13, Brunner-Krainz M14, Lotz-Havla AS15, Cocho de Juan JA16, Couce Pico ML17, Santer R18, Scholl-Bürgi S19, Mandel H20, Bliksrud YT21, Freisinger P22, Aldamiz-Echevarria LJ23, Hochuli M24, Gautschi M25, Endig J26, Jordan J27, McKiernan P28, Ernst S29, Morlot S30, Vogel A31, Sander J32, Das AM33.
- Orphanet journal of rare diseases.Orphanet J Rare Dis.2014 Aug 1;9:107. doi: 10.1186/s13023-014-0107-7.
- BACKGROUND: Hepatorenal tyrosinaemia (Tyr 1) is a rare inborn error of tyrosine metabolism. Without treatment, patients are at high risk of developing acute liver failure, renal dysfunction and in the long run hepatocellular carcinoma. The aim of our study was to collect cross-sectional data.METHODS
- PMID 25081276
Related Links
- Tyrosinosis (inborn hepato-renal dysfunction). L. I. Woolf. Small right arrow pointing to: This article has been cited by other articles in PMC. Full text. Full text is available as a scanned copy of the original print version. Get a printable copy ( PDF ...
- The cerebro-hepato-renal (Zellweger) syndrome is characterised by dysmorphic features, severe muscular hypotonia, hepatic dysfunction and early death in infancy. Recently it has been shown that the disease is an inborn error of metabolism ...
★リンクテーブル★
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- 英
- hepatorenal syndrome
- 同
- 先天性肝腎不全 inborn hepatorenal dysfunction
- 非代償性肝硬変や閉塞黄疸の術後に生じる腎不全で、併発した敗血症やエンドトキセミアによる多臓器不全の一部として発症すると考えられている。(SSUR.594)
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- 関
- barrier、damage、difficulty、disorder、disturbance、foe、functional disorder、functional impairment、hindrance、hypofunction、impair、impairment、impediment、incompetence、insufficiency、lesion、malfunction、obstacle、stun
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- 関
- a priori、congenital、congenitally