Hormone-nuclear receptor interactions in health and disease. Mineralocorticoid resistance. 1994

P A Komesaroff, and J W Funder, and P J Fuller
Baker Medical Research Institute, Prahran, Victoria, Australia.

Mineralocorticoid resistance, or pseudohypoaldosteronism (PHA), is a rare cause of salt wasting in young children. It may be inherited as an autosomal dominant or recessive trait, it may occur sporadically or, rarely, it may develop secondary to other conditions. It is characterized by episodes of dehydration and hyponatraemia in the face of high aldosterone levels. In most cases, after a short period of salt supplementation no further ill effects are experienced. The condition is of great interest because it provides insights into both the mechanisms by which salt and water balance are controlled and the actions of aldosterone. This article reviews the normal physiology of aldosterone, with particular reference to its biosynthesis and its actions in specific target tissues. Current knowledge regarding the molecular mechanisms involved in aldosterone action is discussed in some detail. The clinical features of PHA are reviewed and diagnostic issues and clinical management considered. Finally, current views regarding the pathophysiology of the condition are presented. Here, considerable uncertainty remains. Whilst in many cases of PHA there is greatly reduced binding of aldosterone to its receptor, the underlying abnormality is yet to be identified; in particular, in spite of strong reasons for suspecting a defect or defects in the mineralocorticoid receptor, there is so far no direct evidence to support this hypothesis. The article concludes with a discussion of other possible explanations for the underlying abnormality in PHA.

UI MeSH Term Description Entries
D008659 Metabolic Diseases Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed) Thesaurismosis,Diseases, Metabolic,Disease, Metabolic,Metabolic Disease,Thesaurismoses
D008901 Mineralocorticoids A group of CORTICOSTEROIDS primarily associated with water and electrolyte balance. This is accomplished through the effect on ION TRANSPORT in renal tubules, resulting in retention of sodium and loss of potassium. Mineralocorticoid secretion is itself regulated by PLASMA VOLUME, serum potassium, and ANGIOTENSIN II. Mineralocorticoid,Mineralocorticoid Effect,Mineralocorticoid Effects,Effect, Mineralocorticoid,Effects, Mineralocorticoid
D011546 Pseudohypoaldosteronism A heterogeneous group of disorders characterized by renal electrolyte transport dysfunctions. Congenital forms are rare autosomal disorders characterized by neonatal hypertension, HYPERKALEMIA, increased RENIN activity and ALDOSTERONE concentration. The Type I features HYPERKALEMIA with sodium wasting; Type II, HYPERKALEMIA without sodium wasting. Pseudohypoaldosteronism can be the result of a defective renal electrolyte transport protein or acquired after KIDNEY TRANSPLANTATION. Gordon Hyperkalemia-Hypertension Syndrome,Hyperpotassemia and Hypertension, Familial,Hypertensive Hyperkalemia, Familial,Pseudohypoaldosteronism Type 1,Pseudohypoaldosteronism Type 1, Autosomal Recessive,Pseudohypoaldosteronism, Type I,Pseudohypoaldosteronism, Type I, Autosomal Dominant,Pseudohypoaldosteronism, Type I, Autosomal Recessive,Pseudohypoaldosteronism, Type II,Familial Hyperpotassemia and Hypertension,Familial Hypertensive Hyperkalemia,Pseudohypoaldosteronism Type 1, Autosomal Dominant,Pseudohypoaldosteronism Type 2,Pseudohypoaldosteronism Type I,Pseudohypoaldosteronism Type II,Familial Hypertensive Hyperkalemias,Gordon Hyperkalemia Hypertension Syndrome,Hyperkalemia, Familial Hypertensive,Hyperkalemia-Hypertension Syndrome, Gordon,Hyperkalemias, Familial Hypertensive,Hypertensive Hyperkalemias, Familial,Pseudohypoaldosteronism Type 1s,Pseudohypoaldosteronism Type 2s,Pseudohypoaldosteronism Type IIs,Pseudohypoaldosteronism Type Is,Pseudohypoaldosteronisms,Pseudohypoaldosteronisms, Type I,Pseudohypoaldosteronisms, Type II,Syndrome, Gordon Hyperkalemia-Hypertension,Type 1, Pseudohypoaldosteronism,Type I Pseudohypoaldosteronism,Type I, Pseudohypoaldosteronism,Type II Pseudohypoaldosteronism,Type II Pseudohypoaldosteronisms,Type II, Pseudohypoaldosteronism,Type IIs, Pseudohypoaldosteronism,Type Is, Pseudohypoaldosteronism
D012016 Reference Values The range or frequency distribution of a measurement in a population (of organisms, organs or things) that has not been selected for the presence of disease or abnormality. Normal Range,Normal Values,Reference Ranges,Normal Ranges,Normal Value,Range, Normal,Range, Reference,Ranges, Normal,Ranges, Reference,Reference Range,Reference Value,Value, Normal,Value, Reference,Values, Normal,Values, Reference
D004351 Drug Resistance Diminished or failed response of an organism, disease or tissue to the intended effectiveness of a chemical or drug. It should be differentiated from DRUG TOLERANCE which is the progressive diminution of the susceptibility of a human or animal to the effects of a drug, as a result of continued administration. Resistance, Drug
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000818 Animals Unicellular or multicellular, heterotrophic organisms, that have sensation and the power of voluntary movement. Under the older five kingdom paradigm, Animalia was one of the kingdoms. Under the modern three domain model, Animalia represents one of the many groups in the domain EUKARYOTA. Animal,Metazoa,Animalia

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