Pseudohypoaldosteronism
| Pseudohypoaldosteronism | |
|---|---|
| Specialty | Nephrology  |
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 | Template:OMIM2 | MLR | with sodium wasting |
| PHA1AR | Template:OMIM2 | SCNN1A, SCNN1B, SCNN1G of the epithelial sodium channel | with sodium wasting |
| PHA2 | Template:OMIM2 | WNK4, WNK1 | without sodium wasting. TRPV6 may be involved.[7] |
References
- ^ "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. 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. PMID 26772908.
- ^ 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 U.S. National Library of Medicine Medical Subject Headings (MeSH)
- ^ 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.
External links
- GeneReviews/NCBI/NIH/UW entry on Pseudohypoaldosteronism Type II
- Pseudohypoaldosteronism support page on Facebook
See also
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