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Apparent Mineralocorticoid Excess Syndrome
Apparent mineralocorticoid excess syndrome (AME) is an autosomal recessive disorder causing hypertension (high blood pressure), hypernatremia (increased blood sodium concentration) and hypokalemia (decreased blood potassium concentration). It results from mutations in the '' HSD11B2'' gene, which encodes the kidney isozyme of 11β-hydroxysteroid dehydrogenase type 2. In an unaffected individual, this isozyme inactivates circulating cortisol to the less active metabolite cortisone. Liquorice consumption can also inhibit the enzyme and cause AME. The inactivating mutation leads to elevated local concentrations of cortisol in the aldosterone sensitive tissues like the kidney. Cortisol at high concentrations can cross-react and activate the mineralocorticoid receptor due to the non-selectivity of the receptor, leading to aldosterone-like effects in the kidney. This is what causes the hypokalemia, hypertension, and hypernatremia associated with the syndrome. Patients often present wit ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Heredity
Heredity, also called inheritance or biological inheritance, is the passing on of traits from parents to their offspring; either through asexual reproduction or sexual reproduction, the offspring cells or organisms acquire the genetic information of their parents. Through heredity, variations between individuals can accumulate and cause species to evolve by natural selection. The study of heredity in biology is genetics. Overview In humans, eye color is an example of an inherited characteristic: an individual might inherit the "brown-eye trait" from one of the parents. Inherited traits are controlled by genes and the complete set of genes within an organism's genome is called its genotype. The complete set of observable traits of the structure and behavior of an organism is called its phenotype. These traits arise from the interaction of the organism's genotype with the environment. As a result, many aspects of an organism's phenotype are not inherited. For example, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
11β-Hydroxysteroid Dehydrogenase Type 2
Corticosteroid 11-β-dehydrogenase isozyme 2 also known as 11-β-hydroxysteroid dehydrogenase 2 is an enzyme that in humans is encoded by the gene. Function Corticosteroid 11-β-dehydrogenase isozyme 2 is an NAD+-dependent enzyme expressed in aldosterone-selective epithelial tissues such as the kidney, colon, salivary and sweat glands. HSD211B2 expression is also found in the brainstem in a small, aldosterone-sensitive subset of neurons located in the nucleus of the solitary tract referred to as HSD2 neurons. In these tissues, HSD11B2 oxidizes the glucocorticoid cortisol to the inactive metabolite cortisone, thus preventing illicit activation of the mineralocorticoid receptor. This protective mechanism is necessary because cortisol circulates at 100- to 1000-fold higher concentrations than aldosterone, and binds with equal affinity to the mineralocorticoid receptor, thereby out-competing aldosterone in cells that do not produce HSD11B2. This glucocorticoid-inactivating enzyme ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Maria New
Maria Iandolo New (December 11, 1928 - July 26, 2024 ) was a professor of Pediatrics, Genomics and Genetics at Icahn School of Medicine at Mount Sinai in New York City. She was an expert in congenital adrenal hyperplasia (CAH), a genetic condition affecting the adrenal gland that can affect sexual development. Medical education New received her undergraduate degree in chemistry with a minor in Latin from Cornell University in Ithaca, New York, in 1950, and her M. D. from the Perelman School of Medicine at the University of Pennsylvania in Philadelphia, in 1954. She completed an internship in medicine at Bellevue Hospital in New York, followed by a residency in pediatrics at the New York Hospital. From 1957 to 1958 she studied renal functioning under a fellowship from the National Institutes of Health (NIH). She was a research pediatrician to the Diabetic Study Group of the Comprehensive Care Teaching Program at the New York Hospital-Cornell Medical Center from 1958 to 1961, and ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Spironolactone
Spironolactone, sold under the brand name Aldactone among others, is classed as a diuretic medication. It can be used to treat edema, fluid build-up due to hepatic cirrhosis, liver disease or kidney disease. It is also used to reduce risk of disease progression, hospitalization and death due to some types of heart failure. Other uses include acne and excessive hair growth in women, hypokalemia, low blood potassium that does not improve with Potassium#Supplementation, supplementation, high blood pressure that is difficult to treat and early puberty in boys. It can also be used to block the effects of testosterone in transgender women and Non-binary gender, nonbinary people undergoing Feminizing hormone therapy, feminizing hormone replacement therapy. Spironolactone is usually available in tablets, taken oral administration, by mouth, though topical forms are also available. Common side effects include electrolyte abnormalities, particularly hyperkalemia, high blood potassium ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Liddle's Syndrome
Liddle's syndrome, also called Liddle syndrome, is a genetic disorder inherited in an autosomal dominant manner that is characterized by early, and frequently severe, high blood pressure associated with low plasma renin activity, metabolic alkalosis, low blood potassium, and normal to low levels of aldosterone. Liddle syndrome involves abnormal kidney function, with excess reabsorption of sodium and loss of potassium from the renal tubule, and is treated with a combination of low sodium diet and potassium-sparing diuretics (e.g. amiloride). It is extremely rare, with fewer than 30 pedigrees or isolated cases having been reported worldwide as of 2008. Signs and symptoms Children with Liddle syndrome are frequently asymptomatic. The first indication of the syndrome often is the incidental finding of hypertension during a routine physical exam. Because this syndrome is rare, it may only be considered by the treating physician after the child's hypertension does not respond to m ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Carrier
A hereditary carrier (genetic carrier or just carrier), is a person or other organism that has inherited a recessive allele for a genetic trait or mutation but usually does not display that trait or show symptoms of the disease. Carriers are, however, able to pass the allele onto their offspring, who may then express the genetic trait. Carriers in autosomal inheritances Autosomal dominant-recessive inheritance is made possible by the fact that the individuals of most species (including all higher animals and plants) have two alleles of most hereditary predispositions because the chromosomes in the cell nucleus are usually present in pairs (diploid). Carriers can be female or male as the autosomes are homologous independently from the sex. In carriers the expression of a certain characteristic is recessive. The individual has both a genetic predisposition for the dominant trait and a genetic predisposition for the recessive trait, and the dominant expression prevails in th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hyperaldosteronism
Hyperaldosteronism is a medical condition wherein too much aldosterone is produced. High aldosterone levels can lead to lowered levels of potassium in the blood (hypokalemia) and increased hydrogen ion excretion (alkalosis). Aldosterone is normally produced in the adrenal glands. Primary aldosteronism is when the adrenal glands are too active and produce excess amounts of aldosterone. Secondary aldosteronism is when another abnormality causes the excess production of aldosterone. Signs and symptoms Hyperaldosteronism can be asymptomatic, but these symptoms may be present: * Fatigue * Headache * High blood pressure * Hypokalemia * Hypernatraemia * Hypomagnesemia * Intermittent or temporary paralysis * Muscle spasms * Muscle weakness * Numbness * Polyuria * Polydipsia * Tingling * Metabolic alkalosis Causes Primary Primary aldosteronism (hyporeninemic hyperaldosteronism) is most often caused by bilateral idiopathic (micronodular) adrenal hyperplasia (almost 70% of cases) and ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Aldosterone
Aldosterone is the main mineralocorticoid steroid hormone produced by the zona glomerulosa of the adrenal cortex in the adrenal gland. It is essential for sodium conservation in the kidney, salivary glands, sweat glands, and colon. It plays a central role in the homeostatic regulation of blood pressure, plasma sodium (Na+), and potassium (K+) levels. It does so primarily by acting on the mineralocorticoid receptors in the distal tubules and collecting ducts of the nephron. It influences the reabsorption of sodium and excretion of potassium (from and into the tubular fluids, respectively) of the kidney, thereby indirectly influencing water retention or loss, blood pressure, and blood volume.Marieb Human Anatomy & Physiology 9th edition, chapter:16, page:629, question number:14 When dysregulated, aldosterone is pathogenic and contributes to the development and progression of cardiovascular and kidney disease. Aldosterone has exactly the opposite function of the atrial nat ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mineralocorticoid
Mineralocorticoids are a class of corticosteroids, which in turn are a class of steroid hormones. Mineralocorticoids are produced in the adrenal cortex and influence salt and water balances (electrolyte balance and fluid balance). The primary mineralocorticoid is aldosterone. Physiology The name mineralocorticoid derives from early observations that these hormones were involved in the retention of sodium, a mineral. The primary endogenous mineralocorticoid is aldosterone, although a number of other endogenous hormones (including progesterone and deoxycorticosterone) have mineralocorticoid function. Aldosterone acts on the kidneys to provide active reabsorption of sodium and an associated passive reabsorption of water, as well as the active secretion of potassium in the principal cells of the cortical collecting tubule and active secretion of protons via proton ATPases in the lumenal membrane of the intercalated cells of the collecting tubule. This in turn results in an i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cortisol
Cortisol is a steroid hormone in the glucocorticoid class of hormones and a stress hormone. When used as medication, it is known as hydrocortisone. Cortisol is produced in many animals, mainly by the ''zona fasciculata'' of the adrenal cortex in an adrenal gland. In other tissues, it is produced in lower quantities. By a Circadian rhythm, diurnal cycle, cortisol is released and increases in response to Stress (biology), stress and a low Blood sugar, blood-glucose concentration. It functions to increase blood sugar through gluconeogenesis, suppress the immune system, and aid in the metabolism of calories. It also decreases bone formation. These stated functions are carried out by cortisol binding to glucocorticoid or mineralocorticoid receptors inside a cell, which then bind to DNA to affect gene expression. Health effects Metabolic response Metabolism of glucose Cortisol plays a crucial role in regulating glucose metabolism and promotes gluconeogenesis (glucose synthes ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
