Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Disease of the mineralocorticoid system include disturbances of aldosterone production, metabolism, and action. Excessive aldosterone leads to clinical symptoms hypertension, water retention, and hypokalemia. Low aldosterone levels have the opposite effect: low blood pressure, water depletions, and hyperkalemia.
The clinical diagnosis of hypo- or hyperaldosteronism has to be ompleted with lab tests of plasma aldosterone and renin levels.
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Skinningsrud B et al. (2008) Mutation screening of PTPN22: association of the 1858T-allele with Addison's disease. 
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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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Lafferty AR et al. (2000) A novel genetic locus for low renin hypertension: familial hyperaldosteronism type II maps to chromosome 7 (7p22).
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Kayes-Wandover KM et al. (2001) Congenital hyperreninemic hypoaldosteronism unlinked to the aldosterone synthase (CYP11B2) gene.
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None (1952) Addison's disease: familial incidence and occurence in association with pernicious anemia.
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None (1956) Familial occurrence of Addison's disease.
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MITCHELL RG et al. (1959) Congenital adrenal hypoplasia in siblings.
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MEAKIN JW et al. (1959) Addison's disease in two brothers.
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Boyd JF et al. (1960) Adrenal Cortical Hypoplasia in Siblings.
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O'Donohoe NV et al. (1968) Familial congenital adrenal hypoplasia.
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Torpy DJ et al. (1998) Familial hyperaldosteronism type II: description of a large kindred and exclusion of the aldosterone synthase (CYP11B2) gene.
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