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Familial Hyperkalemic Hypertension
Pseudohypoaldosteronism (PHA) is a condition that mimics hypoaldosteronism (presenting hyperkalemia). Two major types of primary pseudohypoaldosteronism are recognized and these have major differences in etiology and presentation. Pseudohypoaldosteronism type 1 (PHA1) Pseudohypoaldosteronism type 1 (PHA1) is characterized by the body's inability to respond adequately to aldosterone, a hormone crucial for regulating electrolyte levels. This condition often manifests with dehydration as the kidneys struggle to retain sufficient salt, leading to symptoms like increased thirst and dry mouth. Additionally, PHA1 disrupts electrolyte balance, resulting in low levels of sodium and high levels of potassium in the blood. Mechanism PHA1 is an heterogeneous disease, which can be caused by mutations in different genes. On one hand, mutations on the gene ''NR3C2'' (coding the mineralocorticoid receptor) cause the synthesis of a non-functional receptor which is unable to bind aldosterone o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypoaldosteronism
Hypoaldosteronism is an endocrinological disorder characterized by decreased levels of the hormone aldosterone. Similarly, isolated hypoaldosteronism is the condition of having lowered aldosterone without corresponding changes in cortisol. (The two hormones are both produced by the adrenals.) Presentation Hypoaldosteronism causes low sodium (hyponatremia), high potassium (hyperkalemia), and metabolic acidosis, a condition in which the body produces excess acid. These conditions are responsible for the symptoms of hypoaldosteronism, which include muscle weakness, nausea, palpitations, irregular heartbeat, and abnormal blood pressure. Causes There are several causes for this condition, including adrenal insufficiency, congenital adrenal hyperplasia, and some medications such as certain diuretics, NSAIDs, and ACE inhibitors. * Primary aldosterone deficiency # Primary adrenal insufficiency # Congenital adrenal hyperplasia ( 21 but not 11β and 17) # Aldosterone synthase deficie ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sodium Chloride
Sodium chloride , commonly known as Salt#Edible salt, edible salt, is an ionic compound with the chemical formula NaCl, representing a 1:1 ratio of sodium and chloride ions. It is transparent or translucent, brittle, hygroscopic, and occurs as the mineral halite. In its edible form, it is commonly used as a condiment and curing (food preservation), food preservative. Large quantities of sodium chloride are used in many industrial processes, and it is a major source of sodium and chlorine compounds used as feedstocks for further Chemical synthesis, chemical syntheses. Another major application of sodium chloride is deicing of roadways in sub-freezing weather. Uses In addition to the many familiar domestic uses of salt, more dominant applications of the approximately 250 million tonnes per year production (2008 data) include chemicals and de-icing.Westphal, Gisbert ''et al.'' (2002) "Sodium Chloride" in Ullmann's Encyclopedia of Industrial Chemistry, Wiley-VCH, Weinheim . Chem ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Migralepsy
Migralepsy is a rare condition in which a migraine is followed, within an hour period, by an epileptic seizure. Because of the similarities in signs, symptoms, and treatments of both conditions, such as the neurological basis, the psychological issues, and the autonomic distress that is created from them, they individually increase the likelihood of causing the other. However, also because of the sameness, they are often misdiagnosed for each other, as migralepsy rarely occurs. Signs and symptoms General symptoms of migralepsy are: * Flashes of light * Geometric or animate forms * Visual hallucinations * Vomiting * Headache * Blindness * Loss of consciousness * Convulsions Cause The connection between migraines and epileptic seizures is currently being researched and not much is known. Patients have been shown to have had migraines long before developing epileptic symptoms, creating the possibility of severe cases of migraines creating epilepsy. However, not every migraine ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Generalized Tonic–clonic Seizure
A generalized tonic–clonic seizure, commonly known as a grand mal seizure or GTCS, is a type of generalized seizure that produces bilateral, convulsive tonic and clonic muscle contractions. Tonic–clonic seizures are the seizure type most commonly associated with epilepsy and seizures in general and the most common seizure associated with metabolic imbalances. It is a misconception that they are the sole type of seizure, as they are the main seizure type in approximately 10% of those with epilepsy. These seizures typically initiate abruptly with either a focal or generalized onset. A prodrome (a vague sense of impending seizure) may also be present before the seizure begins. The seizure itself includes both tonic and clonic contractions, with tonic contractions usually preceding clonic contractions. After these series of contractions, there is an extended postictal state where the person is unresponsive and commonly sleeping with loud snoring. There is usually pronoun ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Epilepsy
Epilepsy is a group of Non-communicable disease, non-communicable Neurological disorder, neurological disorders characterized by a tendency for recurrent, unprovoked Seizure, seizures. A seizure is a sudden burst of abnormal electrical activity in the brain that can cause a variety of symptoms, ranging from brief lapses of awareness or muscle jerks to prolonged convulsions. These episodes can result in physical injuries, either directly, such as broken bones, or through causing accidents. The diagnosis of epilepsy typically requires at least two unprovoked seizures occurring more than 24 hours apart. In some cases, however, it may be diagnosed after a single unprovoked seizure if clinical evidence suggests a high risk of recurrence. Isolated seizures that occur without recurrence risk or are provoked by identifiable causes are not considered indicative of epilepsy. The underlying cause is often unknown, but epilepsy can result from brain injury, stroke, infections, Brain tumor, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypercalcuria
Hypercalciuria is the condition of elevated calcium in the urine. Chronic hypercalciuria may lead to impairment of renal function, nephrocalcinosis, and chronic kidney disease. Patients with hypercalciuria have kidneys that excrete higher levels of calcium than normal, for which there are many possible causes. Calcium may come from one of two paths: through the gut where higher than normal levels of calcium are absorbed by the body or mobilized from stores in the bones. After initial 24 hour urine calcium testing and additional lab testing, a bone density scan (DSX) may be performed to determine if the calcium is being obtained from the bones. Hypercalciuria in patients can be due to underlying genetic causes. Signs and symptoms There are no clinical signs or symptoms of hypercalciuria itself but elevated calcium in the urine can contribute to accelerated loss of calcium from bone leading to osteoporosis. Additionally, hypercalciuria can contribute to kidney stone formation whic ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hyperchloremia
Hyperchloremia is an electrolyte disturbance in which there is an elevated level of chloride ions in the blood. The normal serum range for chloride is 96 to 106 mEq/L, therefore chloride levels at or above 110 mEq/L usually indicate kidney dysfunction as it is a regulator of chloride concentration. As of now there are no specific symptoms of hyperchloremia; however, it can be influenced by multiple abnormalities that cause a loss of electrolyte-free fluid, loss of hypotonic fluid, or increased administration of sodium chloride. These abnormalities are caused by diarrhea, vomiting, increased sodium chloride intake, renal dysfunction, diuretic use, and diabetes. Hyperchloremia should not be mistaken for hyperchloremic metabolic acidosis as hyperchloremic metabolic acidosis is characterized by two major changes: a decrease in blood pH and bicarbonate levels, as well as an increase in blood chloride levels. Instead those with hyperchloremic metabolic acidosis are usually predisposed ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypertension
Hypertension, also known as high blood pressure, is a Chronic condition, long-term Disease, medical condition in which the blood pressure in the artery, arteries is persistently elevated. High blood pressure usually does not cause symptoms itself. It is, however, a major risk factor for stroke, coronary artery disease, heart failure, atrial fibrillation, peripheral arterial disease, vision loss, chronic kidney disease, and dementia. Hypertension is a major cause of premature death worldwide. High blood pressure is classified as essential hypertension, primary (essential) hypertension or secondary hypertension. About 90–95% of cases are primary, defined as high blood pressure due to non-specific lifestyle and Genetics, genetic factors. Lifestyle factors that increase the risk include excess salt in the diet, overweight, excess body weight, smoking, physical inactivity and Alcohol (drug), alcohol use. The remaining 5–10% of cases are categorized as secondary hypertension, d ... [...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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sodium-chloride Symporter
The sodium-chloride symporter (also known as Na+-Cl− cotransporter, NCC or NCCT, or as the thiazide-sensitive Na+-Cl− cotransporter or TSC) is a cotransporter in the kidney which has the function of reabsorbing sodium and chloride ions from the tubular fluid into the cells of the distal convoluted tubule of the nephron. It is a member of the SLC12 cotransporter family of electroneutral cation-coupled chloride cotransporters. In humans, it is encoded by the gene (solute carrier family 12 member 3) located in 16q13. A loss of NCC function causes Gitelman syndrome, an autosomic recessive disease characterized by salt wasting and low blood pressure, hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria. Over a hundred different mutations in the NCC gene have been identified. Molecular biology The sodium-chloride symporter or NCC is a member of the SLC12 cotransporter family of electroneutral cation-coupled chloride cotransporter, along with the potassium-c ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CUL3
Cullin 3 is a protein that in humans is encoded by the ''CUL3'' gene. Cullin 3 protein belongs to the family of cullins which in mammals contains eight proteins (Cullin 1, Cullin 2, Cullin 3, Cullin 4A, Cullin 4B, Cullin 5, Cullin 7 and Cullin 9). Cullin proteins are an evolutionarily conserved family of proteins throughout yeast, plants and mammals. Function Cullin 3 is a component of Cullin-RING finger domain, RING Ubiquitin ligase, E3 ubiquitin ligases complexes (CRLs) which are involved in protein Ubiquitin, ubiquitylation and represent a part of ubiquitin–proteasome system (UPS). Added ubiquitin moieties to the lysine residue by CRLs then target the protein for proteasomal degradation. Cullin-RING finger domain, RING Ubiquitin ligase, E3 ubiquitin ligases are involved in many cellular processes responsible for cell cycle regulation, stress response, protein trafficking, signal transduction, DNA replication, transcription, protein quality control, circadian clock and deve ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Kelch-like Protein 3
Kelch-like protein 3 is a protein in humans that is encoded by the KLHL3 gene. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Function This gene is ubiquitously expressed and encodes a full-length protein which has an N-terminal BTB domain followed by a BACK domain and six kelch-like repeats in the C-terminus. These kelch-like repeats promote substrate ubiquitination of bound proteins via interaction of the BTB domain with the CUL3 (cullin 3) component of a cullin-RING E3 ubiquitin ligase (CRL) complex. Clinical significance Pseudohypoaldosteronism Type 2D Mutations in this gene cause pseudohypoaldosteronism type IID (PHA2D); a rare Mendelian syndrome featuring hypertension, hyperkalaemia and metabolic acidosis. Ischemic Stroke A machine learning model identified the KLHL3 gene as a key gene in the occurrence and progression of ischemic stroke Stroke is a medical condition in which poor blood flow to a part of the br ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
