Pseudohypoaldosteronism
| Pseudohypoaldosteronism | |
|---|---|
 | |
| In pseudohypoaldosteronism, aldosterone is elevated (hyperaldosteronism), but because the body fails to respond to it, it appears similar to hypoaldosteronism. | |
| Specialty | Urology  |
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]
Types[edit]
| 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] |
Treatment[edit]
Treatment of severe forms of PHA requires relatively large amounts of sodium chloride.[6] These conditions also involve hyperkalemia.[7]
See also[edit]
References[edit]
- ^ "Pseudohypoaldosteronism: Overview - eMedicine Pediatrics: General Medicine". Retrieved 2009-03-06.
- ^ Boyle WA, Nerbonne JM (Apr 1991). "A novel type of depolarization-activated K+ current in isolated adult rat atrial myocytes". The American Journal of Physiology. 260 (4 Pt 2): H1236–47. doi:10.1136/adc.33.169.252. PMC 2012226. PMID 2012226.
- ^ Hanukoglu A (Nov 1991). "Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects". The Journal of Clinical Endocrinology and Metabolism. 73 (5): 936–44. doi:10.1210/jcem-73-5-936. PMID 1939532.
- ^ Hanukoglu I, Hanukoglu A (Jan 2016). "Epithelial sodium channel (ENaC) family: Phylogeny, structure-function, tissue distribution, and associated inherited diseases". Gene. 579 (2): 95–132. doi:10.1016/j.gene.2015.12.061. PMC 4756657. PMID 26772908.
- ^ Yang SS, Hsu YJ, Chiga M, Rai T, Sasaki S, Uchida S, Lin SH (Apr 2010). "Mechanisms for hypercalciuria in pseudohypoaldosteronism type II-causing WNK4 knock-in mice". Endocrinology. 151 (4): 1829–36. doi:10.1210/en.2009-0951. PMID 20181799.
- ^ Hanukoglu A, Hanukoglu I (2010). "Clinical improvement in patients with autosomal recessive pseudohypoaldosteronism and the necessity for salt supplementation". Clinical and Experimental Nephrology. 14 (5): 518–519. doi:10.1007/s10157-010-0326-8. PMID 20661616.
- ^ Pseudohypoaldosteronism at the US National Library of Medicine Medical Subject Headings (MeSH)
External links[edit]
| Classification | |
|---|---|
| External resources |
- GeneReviews/NCBI/NIH/UW entry on Pseudohypoaldosteronism Type II
- Pseudohypoaldosteronism support page on Facebook
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