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Inborn Errors Of Renal Tubular Transport
Inborn errors of renal tubular transport are metabolic disorders which lead to impairment in the ability of solutes, such as salt (chemistry), salts or amino acids, to be transported across the brush border of the renal tubule. This results in disruptions of renal reabsorption. Examples of these disorders include Iminoglycinuria, renal tubular acidosis and Gitelman syndrome. References External links Amino acid metabolism disorders, {{endocrine-disease-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Metabolic Disorder
A metabolic disorder is a disorder that negatively alters the body's processing and distribution of macronutrients, such as proteins, fats, and carbohydrates. Metabolic disorders can happen when abnormal chemical reactions in the body alter the normal metabolic process. It can also be defined as inherited single gene anomaly, most of which are Dominance (genetics), autosomal recessive. Signs and symptoms Some of the symptoms that can occur with metabolic disorders are lethargy, weight loss, jaundice and seizures. The symptoms expressed would vary with the type of metabolic disorder. There are four categories of symptoms: acute symptoms, late-onset acute symptoms, progressive general symptoms and permanent symptoms. Causes Inherited metabolic disorders are one cause of metabolic disorders, and occur when a defective gene causes an enzyme deficiency. These diseases, of which there are many subtypes, are known as inborn errors of metabolism. Metabolic diseases can also occur when ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Solutes
In chemistry, a solution is defined by IUPAC as "A liquid or solid phase containing more than one substance, when for convenience one (or more) substance, which is called the solvent, is treated differently from the other substances, which are called solutes. When, as is often but not necessarily the case, the sum of the mole fractions of solutes is small compared with unity, the solution is called a dilute solution. A superscript attached to the ∞ symbol for a property of a solution denotes the property in the limit of infinite dilution." One important parameter of a solution is the concentration, which is a measure of the amount of solute in a given amount of solution or solvent. The term "aqueous solution" is used when one of the solvents is water. Types ''Homogeneous'' means that the components of the mixture form a single phase. ''Heterogeneous'' means that the components of the mixture are of different phase. The properties of the mixture (such as concentration, tempe ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Salt (chemistry)
In chemistry, a salt or ionic compound is a chemical compound consisting of an assembly of positively charged ions ( cations) and negatively charged ions ( anions), which results in a compound with no net electric charge (electrically neutral). The constituent ions are held together by electrostatic forces termed ionic bonds. The component ions in a salt can be either inorganic, such as chloride (Cl−), or organic, such as acetate (). Each ion can be either monatomic, such as sodium (Na+) and chloride (Cl−) in sodium chloride, or polyatomic, such as ammonium () and carbonate () ions in ammonium carbonate. Salts containing basic ions hydroxide (OH−) or oxide (O2−) are classified as bases, such as sodium hydroxide and potassium oxide. Individual ions within a salt usually have multiple near neighbours, so they are not considered to be part of molecules, but instead part of a continuous three-dimensional network. Salts usually form crystalline structures ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Amino Acid
Amino acids are organic compounds that contain both amino and carboxylic acid functional groups. Although over 500 amino acids exist in nature, by far the most important are the 22 α-amino acids incorporated into proteins. Only these 22 appear in the genetic code of life. Amino acids can be classified according to the locations of the core structural functional groups ( alpha- , beta- , gamma- amino acids, etc.); other categories relate to polarity, ionization, and side-chain group type ( aliphatic, acyclic, aromatic, polar, etc.). In the form of proteins, amino-acid '' residues'' form the second-largest component (water being the largest) of human muscles and other tissues. Beyond their role as residues in proteins, amino acids participate in a number of processes such as neurotransmitter transport and biosynthesis. It is thought that they played a key role in enabling life on Earth and its emergence. Amino acids are formally named by the IUPAC- IUBMB Joint Commi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Brush Border
A brush border (striated border or brush border membrane) is the microvillus-covered surface of simple cuboidal and simple columnar epithelium found in different parts of the body. Microvilli are approximately 100 nanometers in diameter and their length varies from approximately 100 to 2,000 nanometers. Because individual microvilli are so small and are tightly packed in the brush border, individual microvilli can only be resolved using electron microscopes; with a light microscope they can usually only be seen collectively as a fuzzy fringe at the surface of the epithelium. This fuzzy appearance gave rise to the term brush border, as early anatomists noted that this structure appeared very much like the bristles of a paintbrush. Brush border cells are found mainly in the following organs: * The small intestine tract: This is where absorption takes place. The brush borders of the intestinal lining are the site of terminal carbohydrate digestions. The microvilli that constit ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Renal Tubule
The nephron is the minute or microscopic structural and functional unit of the kidney. It is composed of a renal corpuscle and a renal tubule. The renal corpuscle consists of a tuft of capillaries called a glomerulus and a cup-shaped structure called Bowman's capsule. The renal tubule extends from the capsule. The capsule and tubule are connected and are composed of epithelial cells with a lumen. A healthy adult has 1 to 1.5 million nephrons in each kidney. Blood is filtered as it passes through three layers: the endothelial cells of the capillary wall, its basement membrane, and between the podocyte foot processes of the lining of the capsule. The tubule has adjacent peritubular capillaries that run between the descending and ascending portions of the tubule. As the fluid from the capsule flows down into the tubule, it is processed by the epithelial cells lining the tubule: water is reabsorbed and substances are exchanged (some are added, others are removed); first with the in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Reabsorption
In renal physiology, reabsorption, more specifically tubular reabsorption, is the process by which the nephron removes water and solutes from the tubular fluid (pre-urine) and returns them to the circulating blood. It is called ''reabsorption'' (and not ''absorption'') because these substances have already been absorbed once (particularly in the intestines) and the body is reclaiming them from a post glomerular fluid stream that is on its way to becoming urine (that is, they will soon be lost to the urine unless they are reabsorbed from the tubule into the peritubular capillaries). This happens as a result of sodium transport from the lumen into the blood by the Na+/K+ATPase in the basolateral membrane of the epithelial cells. Thus, the glomerular filtrate becomes more concentrated, which is one of the steps in forming urine. Nephrons are divided into five segments, with different segments responsible for reabsorbing different substances. Reabsorption allows many useful ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Iminoglycinuria
Iminoglycinuria is an autosomal recessive disorder of renal tubular transport affecting reabsorption of the amino acid glycine, and the imino acids proline and hydroxyproline. This results in excess urinary excretion of all three acids (''-uria'' denotes "in the urine"). Iminoglycinuria is a rare and complex disorder, associated with a number of genetic mutations that cause defects in both renal and intestinal transport systems of glycine and imino acids. Imino acids typically contain an imine functional group, instead of the amino group found in amino acids. Proline is considered and usually referred to as an amino acid, but unlike others, it has a secondary amine. This feature, unique to proline, identifies proline also as an imino acid. Hydroxyproline is another imino acid, made from the naturally occurring hydroxylation of proline. Presentation The primary characteristic of iminoglycinuria is the presence of glycine and imino acids in the urine. Otherwise, it is thought to ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Renal Tubular Acidosis
Renal tubular acidosis (RTA) is a medical condition that involves an accumulation of acid in the body due to a failure of the kidneys to appropriately acidify the urine. In renal physiology, when blood is filtered by the kidney, the filtrate passes through the tubules of the nephron, allowing for exchange of salts, acid equivalents, and other solutes before it drains into the bladder as urine. The metabolic acidosis that results from RTA may be caused either by insufficient secretion of hydrogen ions (which are acidic) into the latter portions of the nephron (the distal tubule) or by failure to reabsorb sufficient bicarbonate ions (which are alkaline) from the filtrate in the early portion of the nephron (the proximal tubule). Although a metabolic acidosis also occurs in those with chronic kidney disease, the term RTA is reserved for individuals with poor urinary acidification in otherwise well-functioning kidneys. Several different types of RTA exist, which all have di ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gitelman Syndrome
Gitelman syndrome (GS) is an autosomal recessive kidney tubule disorder characterized by low blood levels of potassium and magnesium, decreased excretion of calcium in the urine, and elevated blood pH. It is the most frequent hereditary salt-losing tubulopathy. Gitelman syndrome is caused by disease-causing variants on both alleles of the ''SLC12A3'' gene''.'' The ''SLC12A3'' gene encodes the thiazide-sensitive sodium-chloride cotransporter (also known as NCC, NCCT, or TSC), which can be found in the distal convoluted tubule of the kidney. Disease-causing variants in ''SLC12A3'' lead to a loss of NCC function, i.e., reduced transport of sodium and chloride via NCC. The effect is an electrolyte imbalance similar to that seen with thiazide diuretic therapy (which causes pharmacological inhibition of NCC activity). Gitelman syndrome was formerly considered a subset of Bartter syndrome until the distinct genetic and molecular bases of these disorders were identified. Signs and s ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
