Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Hypoaldosteronism is characterized by low aldosterone levels and the accompanying typical clinical symptoms, such as hypotension, water depletion, and hyperkalemia. Only loss-of-function mutations of the aldosteron synthase cause solely hypoaldosteronism. Often disturbances are more complex and different steroid hormone systems are affected.
Disorder of the aldosterone system
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Hyperaldosteronism
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Hypoaldosteronism
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CYP11B2
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Pseudohyperaldosteronism
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Pseudohypoaldosteronism
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| 1. |
Skinningsrud B et al. (2008) Mutation screening of PTPN22: association of the 1858T-allele with Addison's disease. 
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| 2. |
Gambelunghe G et al. (1999) Microsatellite polymorphism of the MHC class I chain-related (MIC-A and MIC-B) genes marks the risk for autoimmune Addison's disease.
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| 3. |
Kayes-Wandover KM et al. (2001) Congenital hyperreninemic hypoaldosteronism unlinked to the aldosterone synthase (CYP11B2) gene.
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| 4. |
None (1952) Addison's disease: familial incidence and occurence in association with pernicious anemia.
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| 5. |
None (1956) Familial occurrence of Addison's disease.
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| 6. |
MITCHELL RG et al. (1959) Congenital adrenal hypoplasia in siblings.
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| 7. |
MEAKIN JW et al. (1959) Addison's disease in two brothers.
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| 8. |
Boyd JF et al. (1960) Adrenal Cortical Hypoplasia in Siblings.
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| 9. |
O'Donohoe NV et al. (1968) Familial congenital adrenal hypoplasia.
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| 10. |
OMIM.ORG article Omim 606984
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| 11. |
Orphanet article Orphanet ID 171871
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| 12. |
Wikipedia article Wikipedia EN (Hypoaldosteronism)
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