Wikipedia preview

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)

wiki en

Pseudohypoaldosteronism (PHA) is a condition that mimics hypoaldosteronism.^[1] However, the condition is due to a failure of response to aldosterone, and levels of aldosterone are actually elevated, due to a lack of feedback inhibition.

This syndrome was first described by Cheek and Perry in 1958.^[2] Later pediatric endocrinologist Aaron Hanukoglu reported that there are two independent forms of PHA with different inheritance patterns: Renal form with autosomal dominant inheritance exhibiting salt loss mainly from the kidneys, and multi-system form with autosomal recessive form exhibiting salt loss from kidney, lung, and sweat and salivary glands.^[3]

Treatment of severe forms of PHA requires relatively large amounts of sodium chloride. These conditions also involve hyperkalemia.^[4]

Types include:

Type	OMIM	Gene	Description
PHA1AD	177735	MLR	with sodium wasting
PHA1AR	264350	SCNN1A, SCNN1B, SCNN1G of the epithelial sodium channel	with sodium wasting
PHA2	145260	WNK4, WNK1	without sodium wasting. TRPV6 may be involved.^[5]

References

^ "Pseudohypoaldosteronism: Overview - eMedicine Pediatrics: General Medicine". Retrieved 2009-03-06.
^ CHEEK, DB.; PERRY, JW. (Jun 1958). "A salt wasting syndrome in infancy.". Arch Dis Child 33 (169): 252–6. doi:10.1136/adc.33.169.252. PMC 2012226. PMID 13545877.
^ Hanukoglu, A. (Nov 1991). "Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects.". J Clin Endocrinol Metab 73 (5): 936–44. doi:10.1210/jcem-73-5-936. PMID 1939532.
^ Pseudohypoaldosteronism at the US National Library of Medicine Medical Subject Headings (MeSH)
^ Yang, S.-S.; Y.-J. Hsu, M. Chiga, T. Rai, S. Sasaki, S. Uchida, S.-H. Lin (2010). "Mechanisms for Hypercalciuria in Pseudohypoaldosteronism Type II-Causing WNK4 Knock-In Mice". Endocrinology 151 (4): 1829–1836. doi:10.1210/en.2009-0951. ISSN 0013-7227. PMID 20181799. Cite uses deprecated parameters (help)

External links

GeneReviews/NCBI/NIH/UW entry on Pseudohypoaldosteronism Type II
Pseudohypoaldosteronism support page on Facebook

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

1. 腎集合管ナトリウムチャンネルの遺伝的障害：リドル症候群および偽性低アルドステロン症1型 genetic disorders of the collecting tubule sodium channel liddles syndrome and pseudohypoaldosteronism type 1
2. 低アルドステロン症（4型RTA）の病因、診断、および治療 etiology diagnosis and treatment of hypoaldosteronism type 4 rta
3. 小児における高カリウム血症の原因、診断、および評価 causes diagnosis and evaluation of hyperkalemia in children
4. 小児における原発性副腎不全の原因および臨床症状 causes and clinical manifestations of primary adrenal insufficiency in children
5. 幼児および小児における尿細管性アシドーシスの病因および臨床症状 etiology and clinical manifestations of renal tubular acidosis in infants and children

English Journal

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

Japanese Journal

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

Related Pictures

★リンクテーブル★

リンク元	「PHA」「偽性低アルドステロン症」

「PHA」

Pseudohypoaldosteronism
	Classification and external resources
	In pseudohypoaldosteronism, aldosterone is elevated (hyperaldosteronism), but because the body fails to respond to it, it appears similar to hypoaldosteronism.
OMIM	177735 614495 614491 614496 614492 145260 264350 177735 614495 614491 614496 614492 145260
DiseasesDB	= [http://apps.who.int/classifications/icd10/browse/2015/en#/N25.8 N25.8.htm ICD10 = N25.8]
eMedicine	article/924100
MeSH	D011546

　　[★]

「偽性低アルドステロン症」

　　[★]

英: pseudohypoaldosteronism PHA
同: 偽低アルドステロン症

[urlPseudohypoaldosteronism:_Overview_-_eMedicine_Pediatrics:_General_Medicine-1] "Pseudohypoaldosteronism: Overview - eMedicine Pediatrics: General Medicine". Retrieved 2009-03-06.

[2] CHEEK, DB.; PERRY, JW. (Jun 1958). "A salt wasting syndrome in infancy.". Arch Dis Child 33 (169): 252–6. doi:10.1136/adc.33.169.252. PMC 2012226. PMID 13545877.

[pmid1939532-3] Hanukoglu, A. (Nov 1991). "Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects.". J Clin Endocrinol Metab 73 (5): 936–44. doi:10.1210/jcem-73-5-936. PMID 1939532.

[4] Pseudohypoaldosteronism at the US National Library of Medicine Medical Subject Headings (MeSH)

[Yang2010-5] Yang, S.-S.; Y.-J. Hsu, M. Chiga, T. Rai, S. Sasaki, S. Uchida, S.-H. Lin (2010). "Mechanisms for Hypercalciuria in Pseudohypoaldosteronism Type II-Causing WNK4 Knock-In Mice". Endocrinology 151 (4): 1829–1836. doi:10.1210/en.2009-0951. ISSN 0013-7227. PMID 20181799. Cite uses deprecated parameters (help)

匿名

検索

案内

案内

pseudohypoaldosteronism