Pseudohypoaldosteronism

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Pseudohypoaldosteronism
Classification and external resources
Aldosterone-2D-skeletal.svg
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 = N[http://apps.who.int/classifications/icd10/browse/2010/en#/N25.8 25.8.htm ICD10 = N25.8]
eMedicine article/924100
MeSH D011546

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[edit]

  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. 
  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)
  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. 

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