pseudohypoaldosteronism

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偽性低アルドステロン症

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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2014/12/16 23:14:42」(JST)

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英文文献

  • Novel missense mutations of WNK1 in patients with hypokalemic salt-losing tubulopathies.
  • Zhang C, Zhu Y, Huang F, Jiang G, Chang J, Li R.SourceDepartment of Nephrology, Xinhua Hospital Chongming Branch, School of Medicine, Shanghai Jiao Tong University, Shanghai, China; Department of Nephrology, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
  • Clinical genetics.Clin Genet.2013 Jun;83(6):545-52. doi: 10.1111/cge.12008. Epub 2012 Sep 27.
  • Clinical and genetic studies have suggested that a loss of function and gain of function mutation in the same gene can cause different diseases. The aim of this study was to test the hypothesis that inactivating mutations in WNK1 (with no K (lysine) protein kinase-1) or WNK4 could be a new candidate
  • PMID 22934535
  • An inducible transgenic mouse model for familial hypertension with hyperkalaemia (Gordon's syndrome or pseudohypoaldosteronism type II).
  • Chowdhury JA, Liu CH, Zuber AM, O'Shaughnessy KM.SourceClinical Pharmacology Unit, Department of Medicine, University of Cambridge, Addenbrooke's Hospital, Cambridge CB2 2QQ, UK.
  • Clinical science (London, England : 1979).Clin Sci (Lond).2013 Jun;124(12):701-8. doi: 10.1042/CS20120430.
  • Mutations in the novel serine/threonine WNK [With No lysine (=K)] kinases WNK1 and WNK4 cause PHAII (pseudohypoaldosteronism type II or Gordon's syndrome), a rare monogenic syndrome which causes hypertension and hyperkalaemia on a background of a normal glomerular filtration rate. Current animal mod
  • PMID 23336180
  • Failure to thrive, hyponatremia, and hyperkalemia in a neonate.
  • Sopfe J, Simmons JH.AbstractCME EDUCATIONAL OBJECTIVES1.Describe the varying clinical presentations of pseudohypoaldosteronism in the neonatal period.2.Review the physiology of aldosterone production and pathophysiology of pseudohypoaldosteronism.3.Identify treatment options for pseudohypoaldosteronism when identified in the neonatal period. Pseudohypoaldosteronism type I (PHA1) is a rare disease of mineralocorticoid resistance caused by defects in sodium transport in the distal tubule of the kidney. It presents in the neonate with life-threatening dehydration due to salt wasting, accompanied by hyperkalemia, acidosis, and, frequently, failure to thrive. Patients with PHA1 are often initially diagnosed with congenital adrenal hyperplasia, but their electrolyte abnormalities are resistant to treatment with glucocorticoids and mineralocorticoids. In these patients, an astute clinician will broaden his or her differential, resulting in life-saving treatment.
  • Pediatric annals.Pediatr Ann.2013 May 1;42(5):74-9. doi: 10.3928/00904481-20130426-09.
  • CME EDUCATIONAL OBJECTIVES1.Describe the varying clinical presentations of pseudohypoaldosteronism in the neonatal period.2.Review the physiology of aldosterone production and pathophysiology of pseudohypoaldosteronism.3.Identify treatment options for pseudohypoaldosteronism when identified in the n
  • PMID 23641881

和文文献

  • 臨床研究・症例報告 著明な高カリウム血症を呈した続発性偽性低アルドステロン症の2カ月男児例
  • 前田 亮,川崎 幸彦,陶山 和秀 [他]
  • 小児科臨床 66(10), 2084-2088, 2013-10
  • NAID 40019788981
  • Clinical and molecular analysis of six Japanese patients with a renal form of pseudohypoaldosteronism type 1
  • HATTA Yoriko,NAKAMURA Akie,HARA Shinya,KAMIJO Takashi,IWATA Junko,HAMAJIMA Takashi,ABE Marie,OKADA Mari,USHIO Masanobu,TSUYUKI Kazumichi,TAJIMA Toshihiro
  • Endocrine journal 60(3), 299-304, 2013-03-01
  • NAID 10031170614
  • Clinical and molecular analysis of six Japanese patients with a renal form of pseudohypoaldosteronism type 1
  • , , , , , , , , , ,
  • Endocrine Journal 60(3), 299-304, 2013
  • Pseudohypoaldosteronism type 1 (PHA1) is a rare condition characterized by neonatal salt loss with elevated plasma aldosterone and renin levels. …
  • NAID 130004443860

関連リンク

Pseudohypoaldosteronism. Pseudohypoaldosteronism (PHA) comprises a heterogeneous group of disorders of electrolyte metabolism characterized by an apparent state of renal tubular unresponsiveness or resistance to ... ...
Pseudohypoaldosteronism type 1 (PHA1) is a condition characterized by problems regulating the amount of sodium in the body. Sodium regulation, which is important for blood pressure and fluid balance, primarily occurs ...

関連画像

Glucocorticoid-Remediable Aldosteronismtreatments for Pseudohypoaldosteronism Medscapeof pseudohypoaldosteronismTOPIC 1: Disorders of the podocyteMendelian Forms of Hypertension That Cause


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