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Hillel Jonathan Gitelman
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. The disorder is caused by disease-causing variants in 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. The distal convoluted tubule of the kidney plays an important homeostatic role in sodium and chloride absorption as well as of the reabsorption of magnesium and calcium. Genetic mutations of NCC, lead to loss of function and subsequently, reduced transport of sodium and chloride via NCC. Secondary derangement of calcium, magnesium, and potassium concentrations are caused by secondary effects in the distal tubule and collecting duct. The effect is an electrolyte imbalance similar to that seen with thiaz ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Distal Convoluted Tubule
The distal convoluted tubule (DCT) is a portion of kidney nephron between the loop of Henle and the collecting tubule. Physiology It is partly responsible for the regulation of potassium, sodium, calcium, and pH. On its apical surface (lumen side), cells of the DCT have a thiazide-sensitive Na-Cl cotransporter and are permeable to Ca, via the TRPV5 channel. On the basolateral surface (peritubular capillary side) there is an ATP-dependent Na/K antiporter pump, a secondary active Na/Ca transporter, and an ATP dependent Ca transporter. The basolateral ATP dependent Na/K pump produces the gradient for Na to be absorbed from the apical surface via the Na/Cl symporter, and for Ca to be reclaimed into the blood by the Na/Ca basolateral antiporter. * It regulates pH by absorbing bicarbonate and secreting protons (H+) into the filtrate, or by absorbing protons and secreting bicarbonate into the filtrate. * Sodium and potassium levels are controlled by secreting K+ and absorbing Na ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Potassium
Potassium is the chemical element with the symbol K (from Neo-Latin ''kalium'') and atomic number19. Potassium is a silvery-white metal that is soft enough to be cut with a knife with little force. Potassium metal reacts rapidly with atmospheric oxygen to form flaky white potassium peroxide in only seconds of exposure. It was first isolated from potash, the ashes of plants, from which its name derives. In the periodic table, potassium is one of the alkali metals, all of which have a single valence electron in the outer electron shell, that is easily removed to create an ion with a positive charge – a cation, that combines with anions to form salts. Potassium in nature occurs only in ionic salts. Elemental potassium reacts vigorously with water, generating sufficient heat to ignite hydrogen emitted in the reaction, and burning with a lilac- colored flame. It is found dissolved in sea water (which is 0.04% potassium by weight), and occurs in many minerals such as orthoclase, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tetany (medical Sign)
Tetany or tetanic seizure is a medical sign consisting of the involuntary contraction of muscles, which may be caused by disorders that increase the action potential frequency of muscle cells or the nerves that innervate them. Muscle cramps caused by the disease tetanus are not classified as tetany; rather, they are due to a lack of inhibition to the neurons that supply muscles. Tetanic contractions (physiologic tetanus) are a broad range of muscle contraction types, of which tetany is only one. Signs and symptoms Tetany is characterized by contraction of distal muscles of the hands (carpal spasm with extension of interphalangeal joints and adduction and flexion of the metacarpophalangeal joints) and feet (pedal spasm) and is associated with tingling around the mouth and distally in the limbs. Causes * The usual cause of tetany is a deficiency of calcium. An excess of phosphate (high phosphate-to-calcium ratio) can also trigger the spasms. * Underfunction of the parath ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Seizure
An epileptic seizure, informally known as a seizure, is a period of symptoms due to abnormally excessive or synchronous neuronal activity in the brain. Outward effects vary from uncontrolled shaking movements involving much of the body with loss of consciousness ( tonic-clonic seizure), to shaking movements involving only part of the body with variable levels of consciousness (focal seizure), to a subtle momentary loss of awareness ( absence seizure). Most of the time these episodes last less than two minutes and it takes some time to return to normal. Loss of bladder control may occur. Seizures may be provoked and unprovoked. Provoked seizures are due to a temporary event such as low blood sugar, alcohol withdrawal, abusing alcohol together with prescription medication, low blood sodium, fever, brain infection, or concussion. Unprovoked seizures occur without a known or fixable cause such that ongoing seizures are likely. Unprovoked seizures may be exacerbated by stress or sl ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chondrocalcinosis
Chondrocalcinosis or cartilage calcification is calcification (accumulation of calcium salts) in hyaline cartilage and/or fibrocartilage.Rothschild, Bruce M It can be seen on radiography. Causes Buildup of calcium phosphate in the ankle joints has been found in about 50% of the general population, and may be associated with osteoarthritis. Another common cause of chondrocalcinosis is calcium pyrophosphate dihydrate crystal deposition disease (CPPD). CPPD is estimated to affect 4% to 7% of the adult populations of Europe and the United States. This topic last updated: Jul 24, 2018. Previous studies have overestimated the prevalence by simply estimating the prevalence of chondrocalcinosis regardless of cause. A magnesium deficiency may cause chondrocalcinosis, and there is anecdotal evidence that magnesium supplementation may reduce or alleviate symptoms. In some cases, arthritis from injury can cause chondrocalcinosis. Other causes of chondrocalcinosis include: *Hypercalcaemia, e ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Paresthesias
Paresthesia is an abnormal sensation of the skin (tingling, pricking, chilling, burning, numbness) with no apparent physical cause. Paresthesia may be transient or chronic, and may have any of dozens of possible underlying causes. Paresthesias are usually painless and can occur anywhere on the body, but most commonly occur in the arms and legs. The most familiar kind of paresthesia is the sensation known as "pins and needles" after having a limb "fall asleep". A less well-known and uncommon paresthesia is formication, the sensation of insects crawling on the skin. Causes Transient Paresthesias of the hands, feet, legs, and arms are common transient symptoms. The briefest electric shock type of paresthesia can be caused by tweaking the ulnar nerve near the elbow; this phenomenon is colloquially known as bumping one's "funny bone". Similar brief shocks can be experienced when any other nerve is tweaked (e.g. a pinched neck nerve may cause a brief shock-like paresthesia toward the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nocturia
Nocturia is defined by the International Continence Society (ICS) as “the complaint that the individual has to wake at night one or more times for voiding (''i.e. to urinate'').” The term is derived from Latin ''nox, night'', and Greek '' αούρα, urine''. Causes are varied and can be difficult to discern. Although not every patient needs treatment, most people seek treatment for severe nocturia, waking up to void more than 2–3 times per night. Prevalence Studies show that 5–15% of people who are 20–50 years old, 20–30% of people who are 50–70 years old, and 10–50% of people 70+ years old, urinate at least twice a night. Nocturia becomes more common with age. More than 50 percent of men and women over the age of 60 have been measured to have nocturia in many communities. Even more over the age of 80 are shown to experience symptoms of nocturia nightly. Nocturia symptoms also often worsen with age. Although nocturia rates are about the same for both genders, data ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cramp
A cramp is a sudden, involuntary, painful skeletal muscle contraction or overshortening associated with electrical activity; while generally temporary and non-damaging, they can cause significant pain and a paralysis-like immobility of the affected muscle. A cramp usually goes away on its own over a period of several seconds, or minutes. Cramps are common and tend to occur at rest, usually at night (nocturnal leg cramps). They are also often associated with pregnancy, physical exercise or overexertion, age (common in older adults), in such cases, cramps are called idiopathic, because there is no underlying pathology. In addition to those benign conditions cramps are also associated with many pathologic conditions. Skeletal muscle cramps may be caused by muscle fatigue or a lack of electrolytes such as sodium (a condition called hyponatremia), potassium (called hypokalemia), or magnesium (called hypomagnesemia). Some skeletal muscle cramps do not have a known cause. Motor neuron ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pseudohypoaldosteronism
Pseudohypoaldosteronism (PHA) is a condition that mimics hypoaldosteronism. However, the condition is due to a failure of ''response'' to aldosterone, and levels of aldosterone are actually elevated, due to a lack of feedback inhibition. Types Presentation PHA2 is clinically characterised by hypertension, hyperkalaemia, metabolic acidosis and normal renal function. Mechanism PHA2 is also known as familial hyperkalaemic hypertension, or Gordon syndrome. The underlying genetic defect leads to increased sodium chloride reabsorption in the distal tubule in the kidney, leading to volume expansion, hypertension and lowered renin levels. The hyperkalemia found in PHA2 is proposed to be a function of diminished sodium delivery to the cortical collecting tubule (potassium excretion is mediated by the renal outer medullary potassium channel ROMK in which sodium reabsorption plays a role). Alternatively, WNK4 mutations that result in a gain of function of the Na-Cl co-transporter may inhib ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypochloremia
Hypochloremia (or Hypochloraemia) is an electrolyte disturbance in which there is an abnormally low level of the chloride ion in the blood. The normal serum range for chloride is 97 to 107 mEq/L. It rarely occurs in the absence of other abnormalities. It is sometimes associated with hypoventilation. It can be associated with chronic respiratory acidosis. If it occurs together with metabolic alkalosis (decreased blood acidity) it is often due to vomiting. It is usually the result of hyponatremia Hyponatremia or hyponatraemia is a low concentration of sodium in the blood. It is generally defined as a sodium concentration of less than 135 mmol/L (135 mEq/L), with severe hyponatremia being below 120 mEq/L. Symptoms can be abs ... or elevated bicarbonate concentration. It occurs in cystic fibrosis. References External links Electrolyte disturbances {{treatment-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Diuretics
A diuretic () is any substance that promotes diuresis, the increased production of urine. This includes forced diuresis. A diuretic tablet is sometimes colloquially called a water tablet. There are several categories of diuretics. All diuretics increase the excretion of water from the body, through the kidneys. There exist several classes of diuretic, and each works in a distinct way. Alternatively, an antidiuretic, such as vasopressin ( antidiuretic hormone), is an agent or drug which reduces the excretion of water in urine. Medical uses In medicine, diuretics are used to treat heart failure, liver cirrhosis, hypertension, influenza, water poisoning, and certain kidney diseases. Some diuretics, such as acetazolamide, help to make the urine more alkaline, and are helpful in increasing excretion of substances such as aspirin in cases of overdose or poisoning. Diuretics are sometimes abused by people with an eating disorder, especially people with bulimia nervosa, with the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Loop Of Henle
In the kidney, the loop of Henle () (or Henle's loop, Henle loop, nephron loop or its Latin language, Latin counterpart ''ansa nephroni'') is the portion of a nephron that leads from the proximal convoluted tubule to the distal convoluted tubule. Named after its discoverer, the Germany, German anatomist Friedrich Gustav Jakob Henle, the loop of Henle's main function is to create a molecular diffusion, concentration gradient in the renal medulla, medulla of the kidney. By means of a countercurrent multiplier system, which uses electrolyte pumps, the loop of Henle creates an area of high urea concentration deep in the medulla, near the papillary duct in the collecting duct system. Water present in the filtrate in the papillary duct flows through aquaporin channels out of the duct, moving passively down its concentration gradient. This process reabsorbs water and creates a concentrated urine for excretion. Structure The loop of Henle can be divided into four parts: *Thin descending l ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
