Pseudohypoaldosteronism
| Pseudohypoaldosteronism | |
|---|---|
In pseudohypoaldosteronism, aldosterone is elevated (hyperaldosteronism), but because the body fails to respond to it, it appears similar to hypoaldosteronism.
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| Classification and external resources | |
| Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
| 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 |
| Patient UK | Pseudohypoaldosteronism |
| 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] [4]
Treatment of severe forms of PHA requires relatively large amounts of sodium chloride.[5] These conditions also involve hyperkalemia.[6]
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.[7] |
References
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- ↑ Pseudohypoaldosteronism at the US National Library of Medicine Medical Subject Headings (MeSH)
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
External links
- GeneReviews/NCBI/NIH/UW entry on Pseudohypoaldosteronism Type II
- Pseudohypoaldosteronism support page on Facebook
See also
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