|Classification and external resources|
|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]|
Pseudohypoaldosteronism (PHA) is a condition that mimics hypoaldosteronism. 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. 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.
|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.|
- "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.
- GeneReviews/NCBI/NIH/UW entry on Pseudohypoaldosteronism Type II
- Pseudohypoaldosteronism support page on Facebook
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