Pseudohypoaldosteronism
Hypoaldosteronism
Hyperkalemia
Epithelial Sodium Channels
Sodium Chloride Symporters
Receptors, Mineralocorticoid
Aerococcus
Solute Carrier Family 12, Member 3
Aldosterone
Sodium Channels
Protein-Serine-Threonine Kinases
Sodium
Mutation
Pulmonary epithelial sodium-channel dysfunction and excess airway liquid in pseudohypoaldosteronism. (1/74)
BACKGROUND: Active sodium absorption is the dominant mechanism of ion transport in airway epithelium, but its role in pulmonary physiology and airway host defense is unknown. To address this question, we studied the function of airway epithelial cells and determined the frequency of pulmonary symptoms in patients with systemic pseudohypoaldosteronism, a salt-losing disorder caused by loss-of-function mutations in the genes for the epithelial sodium channel. METHODS: In nine patients 1.5 to 22 years of age who had systemic pseudohypoaldosteronism, we tested for mutations in the genes for the epithelial sodium channel, estimated the rate of sodium transport in the airway, determined the volume and ion composition of airway surface liquid, reviewed clinical features, collected laboratory data pertinent to pulmonary function, and, in three adults, measured mucociliary clearance. RESULTS: The patients with systemic pseudohypoaldosteronism had loss-of-function mutations in the genes for the epithelial sodium-channel subunits, no sodium absorption from airway surfaces, and a volume of airway surface liquid that was more than twice the normal value. The mean (+/-SE) mucociliary transport rate was higher in the 3 adult patients than in 12 normal subjects (2.0+/-0.7 vs. 0.5+/-0.3 percent per minute, P=0.009). Young patients (those five years of age or less) all had recurrent episodes of chest congestion, coughing, and wheezing, but no airway infections with Staphylococcus aureus or Pseudomonas aeruginosa. Older patients (those more than five years of age) had less frequent respiratory symptoms. CONCLUSIONS: Patients with systemic pseudohypoaldosteronism fail to absorb liquid from airway surfaces; the result is an increased volume of liquid in the airways. These results demonstrate that sodium transport has a role in regulating the volume of liquid on airway surfaces. (+info)Dysfunction of epithelial sodium transport: from human to mouse. (2/74)
The highly amiloride-sensitive epithelial sodium channel (ENaC) is an apical membrane constituent of cells of many salt-absorbing epithelia. In the kidney, the functional relevance of ENaC expression has been well established. ENaC mediates the aldosterone-dependent sodium reabsorption in the distal nephron and is involved in the regulation of blood pressure. Mutations in genes encoding ENaC subunits are causative for two human inherited diseases: Liddle's syndrome, a severe form of hypertension associated with ENaC hyperfunction, and pseudohypoaldosteronism (PHA-1), a salt-wasting syndrome caused by decreased ENaC function. Transgenic mouse technologies provide a useful tool to study the role of ENaC in vivo. Different mouse lines have been established in which each of the ENaC subunits was affected. The phenotypes observed in these mice demonstrated that each subunit is essential for survival and for regulation of sodium transport in kidney and colon. Moreover, the alpha subunit plays a specific role in the control of fluid absorption in the airways at birth. Such mice can now be used to study the role of ENaC in various organs and can serve as models to understand the pathophysiology of these human diseases. (+info)A new locus on chromosome 12p13.3 for pseudohypoaldosteronism type II, an autosomal dominant form of hypertension. (3/74)
Pseudohypoaldosteronism type II (PHA2) is a rare autosomal dominant form of volume-dependent low-renin hypertension characterized by hyperkalemia and hyperchloremic acidosis but also by a normal glomerular filtration rate. These features, together with the correction of blood pressure and metabolic abnormalities by small doses of thiazide diuretics, suggest a primary renal tubular defect. Two loci have previously been mapped at low resolution to chromosome 1q31-42 (PHA2A) and 17p11-q21 (PHA2B). We have now analyzed a new, large French pedigree, in which 12 affected members over three generations confirmed the autosomal dominant inheritance. Affected subjects had hypertension together with long-term hyperkalemia (range 5.2-6.2 mmol/liter), hyperchloremia (range: 100-109 mmol/liter), normal plasma creatinine (range: 63-129 mmol/liter) and low renin levels. Genetic linkage was excluded for both PHA2A and PHA2B loci (all LOD scores Z<-3.2 at recombination fraction [theta] 0), as well as for the thiazide-sensitive sodium-chloride cotransporter gene. A genome-wide scan using 383 microsatellite markers showed a strong linkage with the chromosome 12p13 region (maximum LOD score Z=6.18, straight theta=0, at D12S99). Haplotype analysis using 10 additional polymorphic markers led to a minimum 13-cM interval flanked by D12S1652 and D12S336, thus defining a new PHA2C locus. Analysis of two obvious candidate genes (SCNN1A and GNb3) located within the interval showed no deleterious mutation. In conclusion, we hereby demonstrate further genetic heterogeneity of this Mendelian form of hypertension and identify a new PHA2C locus, the most compelling and precise linkage interval described to date. (+info)Molecular and pathophysiologic mechanisms of hyperkalemic metabolic acidosis. (4/74)
In summary, hyperkalemia may have a dramatic impact on ammonium production and excretion. Chronic hyperkalemia decreases ammonium production in the proximal tubule and whole kidney, inhibits absorption of NH4+ in the mTALH, reduces medullary interstitial concentrations of NH4+ and NH3, and decreases entry of NH4+ and NH3 into the medullary collecting duct. The potential for development of a hyperchloremic metabolic acidosis is greatly augmented when renal insufficiency with associated reduction in functional renal mass coexists with the hyperkalemia, or in the presence of aldosterone deficiency or resistance. Such a cascade of events helps to explain, in part, the hyperchloremic metabolic acidosis and reduction in net acid excretion characteristic of several experimental models of hyperkalemic-hyperchloremic metabolic acidosis including: obstructive nephropathy, selective aldosterone deficiency, and chronic amiloride administration (7.9). (+info)Human hypertension caused by mutations in WNK kinases. (5/74)
Hypertension is a major public health problem of largely unknown cause. Here, we identify two genes causing pseudohypoaldosteronism type II, a Mendelian trait featuring hypertension, increased renal salt reabsorption, and impaired K+ and H+ excretion. Both genes encode members of the WNK family of serine-threonine kinases. Disease-causing mutations in WNK1 are large intronic deletions that increase WNK1 expression. The mutations in WNK4 are missense, which cluster in a short, highly conserved segment of the encoded protein. Both proteins localize to the distal nephron, a kidney segment involved in salt, K+, and pH homeostasis. WNK1 is cytoplasmic, whereas WNK4 localizes to tight junctions. The WNK kinases and their associated signaling pathway(s) may offer new targets for the development of antihypertensive drugs. (+info)Heterozygous mutations of the gene for Kir 1.1 (ROMK) in antenatal Bartter syndrome presenting with transient hyperkalemia, evolving to a benign course. (6/74)
Bartter-like syndrome encompasses a set of inherited renal tubular disorders associated with hypokalemic metabolic alkalosis, renal salt wasting, hyperreninemic hyperaldosteronism, and normal blood pressure. Antenatal Bartter syndrome, a subtype of Bartter-like syndrome, is characterized by polyhydramnios, premature delivery, life-threatening episodes of fever and dehydration during the early weeks of life, growth retardation, hypercalciuria, and early-onset nephrocalcinosis. Mutations in the bumetanide-sensitive Na-K-2Cl cotransporter (NKCC2) and ATP-sensitive inwardly rectifying potassium channel (ROMK) of the thick ascending limb of Henle's loop have been identified in the antenatal Bartter syndrome. We report the identification of two heterozygous mutations of the gene for Kir 1.1 (ROMK) from an antenatal Bartter syndrome patient who presented at birth with mild salt wasting and a biochemical findings that mimicked primary pseudohypoaldosteronism type 1, such as hyperkalemia and hyponatremia, and evolved to a relatively benign course. We have identified amino acid exchanges Arg338Stop and Met357Thr in the gene exon 5 for ROMK by PCR and direct sequencing. Both mutations alter the C-terminus of the ROMK protein, and can affect channel function. (+info)Dysfunction of the epithelial sodium channel expressed in the kidney of a mouse model for Liddle syndrome. (7/74)
The Liddle syndrome is a dominant form of salt-sensitive hypertension resulting from mutations in the beta or gamma subunit of ENaC. A previous study established a mouse model carrying a premature Stop codon corresponding to the R(566stop) mutation (L) found in the original pedigree that recapitulates to a large extent the human disease. This study investigated the renal Na(+) transport in vivo, ex vivo (intact perfused tubules), and in vitro (primary cultured cortical collecting ducts [CCD]). In vivo, upon 6 to 12 h of salt repletion, after 1 week of low-salt diet, the L/L mice showed a delayed urinary sodium excretion, despite a lower aldosterone secretion as compared with controls. After 6 h salt of repletion, ENaC gamma subunit is rapidly removed from the apical plasma membrane in wild-type mice, whereas it is retained at the apical membrane in L/L mice. Ex vivo, isolated perfused CCD from L/L mice exhibited higher transepithelial potential differences than perfused CCD isolated from +/+ mice. In vitro, confluent primary cultures of CCD microdissected from L/L kidneys grown on permeable filters exhibited significant lower transepithelial electrical resistance and higher negative potential differences than their cultured L/+ and +/+ CCD counterparts. The equivalent short-circuit current (I(eq)) and the amiloride-sensitive I(eq) was approximately twofold higher in cultured L/L CCD than in +/+ CCD. Aldosterone (5 x 10(-7)M for 3 h) further increased I(eq) from cultured L/L CCD. Thus, this study brings three independent lines of evidence for the constitutive hyperactivity of ENaC in CCD from mice harboring the Liddle mutation. (+info)WNK1, the kinase mutated in an inherited high-blood-pressure syndrome, is a novel PKB (protein kinase B)/Akt substrate. (8/74)
Recent evidence indicates that mutations in the gene encoding the WNK1 [with no K (lysine) protein kinase-1] results in an inherited hypertension syndrome called pseudohypoaldosteronism type II. The mechanisms by which WNK1 is regulated or the substrates it phosphorylates are currently unknown. We noticed that Thr-60 of WNK1, which lies N-terminal to the catalytic domain, is located within a PKB (protein kinase B) phosphorylation consensus sequence. We found that PKB phosphorylated WNK1 efficiently compared with known substrates, and both peptide map and mutational analysis revealed that the major PKB site of phosphorylation was Thr-60. Employing a phosphospecific Thr-60 WNK1 antibody, we demonstrated that IGF1 (insulin-like growth factor) stimulation of HEK-293 cells induced phosphorylation of endogenously expressed WNK1 at Thr-60. Consistent with PKB mediating this phosphorylation, inhibitors of PI 3-kinase (phosphoinositide 3-kinase; wortmannin and LY294002) but not inhibitors of mammalian target of rapamycin (rapamycin) or MEK1 (mitogen-activated protein kinase kinase-1) activation (PD184352), inhibited IGF1-induced phosphorylation of endogenous WNK1 at Thr-60. Moreover, IGF1-induced phosphorylation of endogenous WNK1 did not occur in PDK1-/- ES (embryonic stem) cells, in which PKB is not activated. In contrast, IGF1 still induced normal phosphorylation of WNK1 in PDK1(L155E/L155E) knock-in ES cells in which PKB, but not S6K (p70 ribosomal S6 kinase) or SGK1 (serum- and glucocorticoid-induced protein kinase 1), is activated. Our study provides strong pharmacological and genetic evidence that PKB mediates the phosphorylation of WNK1 at Thr-60 in vivo. We also performed experiments which suggest that the phosphorylation of WNK1 by PKB is not regulating its kinase activity or cellular localization directly. These results provide the first connection between the PI 3-kinase/PKB pathway and WNK1, suggesting a mechanism by which this pathway may influence blood pressure. (+info)Pseudohypoaldosteronism is a group of disorders that are characterized by resistance to aldosterone, a hormone produced by the adrenal glands. Aldosterone plays a key role in regulating sodium and potassium balance in the body. In pseudohypoaldosteronism, the kidneys fail to respond to aldosterone, leading to an imbalance of electrolytes in the body.
There are two types of pseudohypoaldosteronism: type I and type II. Type I is further divided into two subtypes: severe neonatal or infantile forms, which are usually caused by genetic mutations that affect the function of the sodium-potassium pump in the kidney; and milder forms, which can be inherited or acquired and may be associated with other medical conditions.
Type II pseudohypoaldosteronism is a rare disorder that typically affects older children and adults. It is caused by genetic mutations that affect the function of the mineralocorticoid receptor in the kidney, which binds to aldosterone and triggers a response.
Symptoms of pseudohypoaldosteronism may include low sodium levels, high potassium levels, and metabolic acidosis (a buildup of acid in the body). Treatment typically involves supplementation with sodium and/or medications to help regulate electrolyte balance.
Hypoaldosteronism is a medical condition characterized by decreased levels or impaired function of the hormone aldosterone, which is produced by the adrenal gland. Aldosterone plays a crucial role in regulating electrolyte and fluid balance in the body by increasing the reabsorption of sodium and excretion of potassium in the kidneys.
Hypoaldosteronism can lead to low blood pressure, muscle weakness, and an imbalance of electrolytes, particularly low serum sodium levels and high serum potassium levels. This condition can be caused by various factors, including damage to the adrenal gland, impaired production or function of aldosterone, or decreased responsiveness of the kidneys to aldosterone.
Hypoaldosteronism can be primary or secondary. Primary hypoaldosteronism is caused by a problem with the adrenal glands themselves, such as damage to the gland or a genetic disorder that affects aldosterone production. Secondary hypoaldosteronism is caused by a problem outside of the adrenal glands, such as decreased production of renin (an enzyme produced by the kidneys) or certain medications that interfere with aldosterone production or function.
Treatment for hypoaldosteronism depends on the underlying cause and may include medication to replace missing aldosterone or correct electrolyte imbalances, as well as addressing any underlying conditions contributing to the development of the condition.
Hyperkalemia is a medical condition characterized by an elevated level of potassium (K+) in the blood serum, specifically when the concentration exceeds 5.0-5.5 mEq/L (milliequivalents per liter). Potassium is a crucial intracellular ion that plays a significant role in various physiological processes, including nerve impulse transmission, muscle contraction, and heart rhythm regulation.
Mild to moderate hyperkalemia might not cause noticeable symptoms but can still have harmful effects on the body, particularly on the cardiovascular system. Severe cases of hyperkalemia (potassium levels > 6.5 mEq/L) can lead to potentially life-threatening arrhythmias and heart failure.
Hyperkalemia may result from various factors, such as kidney dysfunction, hormonal imbalances, medication side effects, trauma, or excessive potassium intake. Prompt identification and management of hyperkalemia are essential to prevent severe complications and ensure proper treatment.
Epithelial Sodium Channels (ENaC) are a type of ion channel found in the epithelial cells that line the surface of many types of tissues, including the airways, kidneys, and colon. These channels play a crucial role in regulating sodium and fluid balance in the body by allowing the passive movement of sodium ions (Na+) from the lumen or outside of the cell to the inside of the cell, following their electrochemical gradient.
ENaC is composed of three subunits, alpha, beta, and gamma, which are encoded by different genes. The channel is normally closed and opens in response to various stimuli, such as hormones, neurotransmitters, or changes in osmolarity. Once open, the channel allows sodium ions to flow through, creating a positive charge that can attract chloride ions (Cl-) and water molecules, leading to fluid absorption.
In the kidneys, ENaC plays an essential role in regulating sodium reabsorption in the distal nephron, which helps maintain blood pressure and volume. In the airways, ENaC is involved in controlling the hydration of the airway surface liquid, which is necessary for normal mucociliary clearance. Dysregulation of ENaC has been implicated in several diseases, including hypertension, cystic fibrosis, and chronic obstructive pulmonary disease (COPD).
Sodium chloride symporters are membrane transport proteins that actively co-transport sodium and chloride ions into a cell. They are also known as sodium-chloride cotransporters or NCCs. These transporters play a crucial role in regulating the electrolyte balance and water homeostasis in various tissues, particularly in the kidney's distal convoluted tubule.
The primary function of sodium chloride symporters is to reabsorb sodium and chloride ions from the filtrate in the nephron back into the bloodstream. By doing so, they help maintain the body's sodium concentration and control water balance through osmosis.
Mutations in the gene encoding for the NCC can lead to various kidney disorders, such as Gitelman syndrome or Bartter syndrome type III, which are characterized by electrolyte imbalances, low blood pressure, and metabolic alkalosis.
Medical Definition:
Mineralocorticoid Receptors (MRs) are a type of nuclear receptor protein that are activated by the binding of mineralocorticoid hormones, such as aldosterone. These receptors are expressed in various tissues and cells, including the kidneys, heart, blood vessels, and brain.
When activated, MRs regulate gene expression related to sodium and potassium homeostasis, water balance, and electrolyte transport. This is primarily achieved through the regulation of ion channels and transporters in the distal nephron of the kidney, leading to increased sodium reabsorption and potassium excretion.
Abnormalities in mineralocorticoid receptor function have been implicated in several diseases, including hypertension, heart failure, and primary aldosteronism.
'Aerococcus' is a genus of Gram-positive, catalase-negative, coccus-shaped bacteria that are facultatively anaerobic and often found in pairs or tetrads. They are commonly found in various environments, including soil, water, and the skin and mucous membranes of animals. Some species of Aerococcus have been associated with human infections, particularly in individuals with underlying medical conditions or compromised immune systems. These infections can include urinary tract infections, endocarditis, and bacteremia. However, Aerococcus infections are relatively uncommon and often difficult to diagnose due to their slow growth and tendency to be overlooked in clinical microbiology laboratories.
Solute Carrier Family 12, Member 3 (SLC12A3) is a protein that belongs to the solute carrier family, which are membrane transport proteins involved in the movement of various substances across cell membranes. Specifically, SLC12A3 is a member of the electroneutral cation-chloride cotransporter (CCC) family and encodes for the protein known as downregulated in adenoma maturity alpha (DRA).
The DRA protein functions as an apical membrane transporter that mediates the coupled movement of sodium, chloride, and bicarbonate ions across epithelial cells. It is primarily expressed in the colon, where it plays a critical role in maintaining electrolyte homeostasis by facilitating the absorption of sodium and chloride ions from the intestinal lumen into the bloodstream.
Mutations in the SLC12A3 gene have been associated with several human diseases, including congenital chloride diarrhea (CLD), a rare autosomal recessive disorder characterized by chronic watery diarrhea due to excessive loss of sodium and chloride ions.
Fludrocortisone is a synthetic corticosteroid hormone, specifically a mineralocorticoid. It is often used to treat conditions associated with low levels of corticosteroids, such as Addison's disease. It works by helping the body retain sodium and lose potassium, which helps to maintain fluid balance and blood pressure.
In medical terms, fludrocortisone is defined as a synthetic mineralocorticoid with glucocorticoid activity used in the treatment of adrenogenital syndrome and Addison's disease, and as an adjunct in the treatment of rheumatoid arthritis. It is also used to treat orthostatic hypotension by helping the body retain sodium and water, thereby increasing blood volume and blood pressure.
It is important to note that fludrocortisone can have significant side effects, particularly if used in high doses or for long periods of time. These can include fluid retention, high blood pressure, increased risk of infection, and slowed growth in children. As with any medication, it should be used under the close supervision of a healthcare provider.
Aldosterone is a hormone produced by the adrenal gland. It plays a key role in regulating sodium and potassium balance and maintaining blood pressure through its effects on the kidneys. Aldosterone promotes the reabsorption of sodium ions and the excretion of potassium ions in the distal tubules and collecting ducts of the nephrons in the kidneys. This increases the osmotic pressure in the blood, which in turn leads to water retention and an increase in blood volume and blood pressure.
Aldosterone is released from the adrenal gland in response to a variety of stimuli, including angiotensin II (a peptide hormone produced as part of the renin-angiotensin-aldosterone system), potassium ions, and adrenocorticotropic hormone (ACTH) from the pituitary gland. The production of aldosterone is regulated by a negative feedback mechanism involving sodium levels in the blood. High sodium levels inhibit the release of aldosterone, while low sodium levels stimulate its release.
In addition to its role in maintaining fluid and electrolyte balance and blood pressure, aldosterone has been implicated in various pathological conditions, including hypertension, heart failure, and primary hyperaldosteronism (a condition characterized by excessive production of aldosterone).
Sodium channels are specialized protein structures that are embedded in the membranes of excitable cells, such as nerve and muscle cells. They play a crucial role in the generation and transmission of electrical signals in these cells. Sodium channels are responsible for the rapid influx of sodium ions into the cell during the initial phase of an action potential, which is the electrical signal that travels along the membrane of a neuron or muscle fiber. This sudden influx of sodium ions causes the membrane potential to rapidly reverse, leading to the depolarization of the cell. After the action potential, the sodium channels close and become inactivated, preventing further entry of sodium ions and helping to restore the resting membrane potential.
Sodium channels are composed of a large alpha subunit and one or two smaller beta subunits. The alpha subunit forms the ion-conducting pore, while the beta subunits play a role in modulating the function and stability of the channel. Mutations in sodium channel genes have been associated with various inherited diseases, including certain forms of epilepsy, cardiac arrhythmias, and muscle disorders.
Protein-Serine-Threonine Kinases (PSTKs) are a type of protein kinase that catalyzes the transfer of a phosphate group from ATP to the hydroxyl side chains of serine or threonine residues on target proteins. This phosphorylation process plays a crucial role in various cellular signaling pathways, including regulation of metabolism, gene expression, cell cycle progression, and apoptosis. PSTKs are involved in many physiological and pathological processes, and their dysregulation has been implicated in several diseases, such as cancer, diabetes, and neurodegenerative disorders.
Sodium is an essential mineral and electrolyte that is necessary for human health. In a medical context, sodium is often discussed in terms of its concentration in the blood, as measured by serum sodium levels. The normal range for serum sodium is typically between 135 and 145 milliequivalents per liter (mEq/L).
Sodium plays a number of important roles in the body, including:
* Regulating fluid balance: Sodium helps to regulate the amount of water in and around your cells, which is important for maintaining normal blood pressure and preventing dehydration.
* Facilitating nerve impulse transmission: Sodium is involved in the generation and transmission of electrical signals in the nervous system, which is necessary for proper muscle function and coordination.
* Assisting with muscle contraction: Sodium helps to regulate muscle contractions by interacting with other minerals such as calcium and potassium.
Low sodium levels (hyponatremia) can cause symptoms such as confusion, seizures, and coma, while high sodium levels (hypernatremia) can lead to symptoms such as weakness, muscle cramps, and seizures. Both conditions require medical treatment to correct.
A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.
A kidney, in medical terms, is one of two bean-shaped organs located in the lower back region of the body. They are essential for maintaining homeostasis within the body by performing several crucial functions such as:
1. Regulation of water and electrolyte balance: Kidneys help regulate the amount of water and various electrolytes like sodium, potassium, and calcium in the bloodstream to maintain a stable internal environment.
2. Excretion of waste products: They filter waste products from the blood, including urea (a byproduct of protein metabolism), creatinine (a breakdown product of muscle tissue), and other harmful substances that result from normal cellular functions or external sources like medications and toxins.
3. Endocrine function: Kidneys produce several hormones with important roles in the body, such as erythropoietin (stimulates red blood cell production), renin (regulates blood pressure), and calcitriol (activated form of vitamin D that helps regulate calcium homeostasis).
4. pH balance regulation: Kidneys maintain the proper acid-base balance in the body by excreting either hydrogen ions or bicarbonate ions, depending on whether the blood is too acidic or too alkaline.
5. Blood pressure control: The kidneys play a significant role in regulating blood pressure through the renin-angiotensin-aldosterone system (RAAS), which constricts blood vessels and promotes sodium and water retention to increase blood volume and, consequently, blood pressure.
Anatomically, each kidney is approximately 10-12 cm long, 5-7 cm wide, and 3 cm thick, with a weight of about 120-170 grams. They are surrounded by a protective layer of fat and connected to the urinary system through the renal pelvis, ureters, bladder, and urethra.
Pseudohypoaldosteronism
SCNN1B
SCNN1G
List of OMIM disorder codes
Kelch-like protein 3
Hypoaldosteronism
Israel Hanukoglu
WNK4
Mineralocorticoid receptor
SCNN1A
Liddle's syndrome
ROMK
Cilium
Eccrine sweat gland
Female infertility
Epithelial sodium channel
Gordon's syndrome
WNK1
Hyperchloremic acidosis
Sodium-chloride symporter
List of MeSH codes (C12)
Isolated hyperchlorhidrosis
Renal tubular acidosis
List of MeSH codes (C18)
List of MeSH codes (C16)
PHA
List of diseases (P)
Hyperkalemia
Pseudohypoaldosteronism - Wikipedia
Pseudohypoaldosteronism: Background, Pathophysiology, Etiology
Pseudohypoaldosteronism: Background, Pathophysiology, Etiology
Pseudohypoaldosteronism Type I - Genitourinary Disorders - MSD Manual Professional Edition
WNK4 gene: MedlinePlus Genetics
Pseudohypoaldosteronism Type 1 Newborn Patient with a Novel Mutation in SCNN1B | AVESİS
Potassium: Reference Range, Interpretation, Collection and Panels
MedlinePlus: Genetic Conditions: F
Applied genetics in pediatric practice: Case series on pseudohypoaldosteronism Shagufa M, Remesh P, Anand M R, Vishnu Mohan P T...
Serval - A mutation causing pseudohypoaldosteronism type 1 identifies a conserved glycine that is involved in the gating of the...
Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target...
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Type12
- Pseudohypoaldosteronism type I is a group of rare hereditary disorders that cause the kidneys to retain too much potassium but excrete too much sodium and water, leading to hypotension. (msdmanuals.com)
- Pseudohypoaldosteronism type I resembles other forms of hypoaldosteronism except that aldosterone levels are high. (msdmanuals.com)
- The very rare pseudohypoaldosteronism type II is not discussed here. (msdmanuals.com)
- At least eight mutations in the WNK4 gene have been found to cause pseudohypoaldosteronism type 2 (PHA2), a condition characterized by high blood pressure ( hypertension ) and high levels of potassium in the blood (hyperkalemia). (medlineplus.gov)
- Studies have associated normal variations in the WNK4 gene with an increased risk of high blood pressure (hypertension) in people without pseudohypoaldosteronism type 2. (medlineplus.gov)
- Pseudohypoaldosteronism Type 1 Newborn P. (istanbul.edu.tr)
- Although the initial evaluation was made in this direction, the patient was diagnosed as pseudohypoaldosteronism type 1 with the findings obtained during the process such as dehydration, cortisol levels, adrenocorticotropic hormone levels, and negative CYP21A2 analysis result. (istanbul.edu.tr)
- Systemic pseudohypoaldosteronism (PHA) type I is a rare genetic disorder resulting from mutations in the subunits of the epithelial sodium channel that manifests as severe salt wasting, hyperkalemia, and metabolic acidosis in infancy. (pediatriccompanionkerala.in)
- A mutation causing pseudohypoaldosteronism type 1 identifies a conserved glycine that is involved in the gating of the epithelial sodium channel. (unil.ch)
- Type I pseudohypoaldosteronism (PHA) is a hereditary disease characterized by salt wasting resulting from target organ unresponsiveness to mineralocorticoids. (tau.ac.il)
- Adachi M , Tachibana K , Asakura Y , Abe S , Nakae J , Tajima T , Fujieda K . Compound heterozygous mutations in the gamma subunit gene of ENaC (1627delG and 1570‐1G→A) in one sporadic Japanese patient with a systemic form of pseudohypoaldosteronism type 1. (comprehensivephysiology.com)
- Pseudohypoaldosteronism type 1B is very rare, there's less than 200 cases in the world! (worldoftzedaka.org)
Hereditary2
- Is Pseudohypoaldosteronism hereditary? (studybuff.com)
- Mutations in GNAS are responsible for Albright's hereditary osteodystrophy (otherwise known as pseudohypoaldosteronism). (medwirenews.com)
Hypoaldosteronism1
- Pseudohypoaldosteronism (PHA) is a condition that mimics hypoaldosteronism. (wikipedia.org)
Acidosis1
- Pseudohypoaldosteronism is a rare disease characterized by resistance to aldosterone-targeted organs, hyponatremia, hyperkalemia, metabolic acidosis, and severe salt loss in hyperaldosteronism. (istanbul.edu.tr)
Mimics1
- People may also experience pseudohypoaldosteronism, which mimics the condition. (medicalnewstoday.com)
Renal1
- Pseudohypoaldosteronism (PHA) comprises a heterogeneous group of disorders of electrolyte metabolism characterized by an apparent state of renal tubular unresponsiveness or resistance to the action of aldosterone. (medscape.com)
Hypertension1
- Gain-of-function mutations in beta- or gamma-ENaC can cause severe arterial hypertension (Liddels syndrome) and loss-of-function mutations in alpha- or beta-ENaC causes pseudohypoaldosteronism (PHA-1). (thermofisher.com)
Sporadic1
- Pseudohypoaldosteronism: sporadic and familial mineralocorticoid resistance. (endotext.org)
Patients2
- Patients with pseudohypoaldosteronism (PHA) who are experiencing hypovolemia and shock should receive fluid resuscitation with isotonic sodium chloride solution at 20 mL/kg over 30-60 minutes. (studybuff.com)
- L'objectif de ce travail était d'évaluer la prise en charge de ces patients dans le service d'anesthésie et de réanimation. (bvsalud.org)
Types1
- about, your concentrated- cannot allow Economy-types by pseudohypoaldosteronism. (cornels-selke.de)
Autosomal recessive pseudohypoaldosteronism type1
- Autosomal recessive pseudohypoaldosteronism type 1 (PHA1) is a rare disorder characterized by sodium wasting, failure to thrive, hyperkalemia, hypovolemia and metabolic acidosis. (escholarship.org)
Hyperkalemia1
- Pseudohypoaldosteronism type II (PHAII) is characterized by hyperkalemia despite normal glomerular filtration rate (GFR) and frequently by hypertension. (nih.gov)
WNK42
- 11. WNK4 is indispensable for the pathogenesis of pseudohypoaldosteronism type II caused by mutant KLHL3. (nih.gov)
- In contrast, three different WNK4 missense mutations that cause pseudohypoaldosteronism type II do not affect the WNK4-induced inhibition of KCC4. (elsevierpure.com)
Familial1
- Mansfield TA, Simon DB, Farfel Z, et al: Multilocus linkage of familial hyperkalaemia and hypertension, pseudohypoaldosteronism type II, to chromosomes 1q31-42 and 17p11-q21. (mhmedical.com)
Hypertension1
- Mutations in the second proline abrograte the interaction causing the hypertension syndrome pseudohypoaldosteronism type II. (ox.ac.uk)
Renal2
- Pseudohypoaldosteronism can be the result of a defective renal electrolyte transport protein or acquired after KIDNEY TRANSPLANTATION . (nih.gov)
- El pseudohipoaldosteronismo puede ser resultado de un déficit de proteína de transporte de electrolitos en el riñón, o puede presentarse tras un TRASPLANTE RENAL. (bvsalud.org)
Syndrome2
- Parmi les nouveau-nés présentant un caryotype anormal (n = 3), l'un, souffrant de trisomie 18 (47,XX), est décédé à l'âge de trois mois, tandis que les deux autres enfants étaient atteints de différents types de syndrome de Turner en mosaïque. (who.int)
- Mutations in KLHL3 cause a dominant form of pseudohypoaldosteronism type 2 (PHA-II), also known as Gordon syndrome ( OMIM 614495 ). (bicellscientific.com)
PHA13
- Pseudohypoaldosteronism type 1 (PHA1) is a condition characterized by problems regulating the amount of sodium in the body. (medlineplus.gov)
- This gene encodes the alpha subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. (nih.gov)
- Background: Pseudohypoaldosteronism type 1 (PHA1) is a rare disorder of neonatal salt loss unresponsive to mineralocorticoids, requiring salt supplementation. (eurospe.org)
PHAII1
- Pseudohypoaldosteronism type II (PHAII) should be suspected in individuals with the following clinical features, supportive laboratory findings, and family history. (nih.gov)
Mineralocorticoid receptor1
- Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism. (medscape.com)
Mutations2
- Human subjects with pseudohypoaldosteronism-1 because of loss-of-function mutations in epithelial sodium channel (ENaC) subunits exhibit meibomian gland (MG) dysfunction. (nih.gov)
- Mutations in this gene have been associated with pseudohypoaldosteronism type II and hereditary sensory neuropathy type II. (thermofisher.com)
Epithelial sodium1
- Loss of β Epithelial Sodium Channel Function in Meibomian Glands Produces Pseudohypoaldosteronism 1-Like Ocular Disease in Mice. (nih.gov)
Sodium3
- Pseudohypoaldosteronism type 1 is named for its characteristic signs and symptoms, which mimic (pseudo) low levels (hypo) of a hormone called aldosterone that helps regulate sodium levels. (medlineplus.gov)
- Adachi M, Tajima T, Muroya K. Dietary potassium restriction attenuates urinary sodium wasting in the generalized form of pseudohypoaldosteronism type 1. (medscape.com)
- Pseudohypoaldosteronism type I is a group of rare hereditary disorders that cause the kidneys to retain too much potassium but excrete too much sodium and water, leading to hypotension. (msdmanuals.com)
Aldosterone1
- Pseudohypoaldosteronism type I resembles other forms of hypoaldosteronism except that aldosterone levels are high. (msdmanuals.com)
Findings1
- Dermal and Ophthalmic Findings in Pseudohypoaldosteronism. (medscape.com)
Mechanisms1
- Autosomal dominant pseudohypoaldosteronism type 1: mechanisms, evidence for neonatal lethality, and phenotypic expression in adults. (medscape.com)
Nephropathy1
- Tobias JD, Brock JW III, Lynch A. Pseudohypoaldosteronism following operative correction of unilateral obstructive nephropathy. (medscape.com)
Clinical1
- Chitayat D, Spirer Z, Ayalon D, Golander A. Pseudohypoaldosteronism in a female infant and her family: diversity of clinical expression and mode of inheritance. (medscape.com)
Disease1
- Cell proliferation assays revealed lower proliferation rates of MG cells derived from βENaC MG KO than control mice, suggesting that βENaC plays a role in cell renewal of mouse MG. Loss of βENaC function resulted in MG disease and severe ocular surface damage that phenocopied aspects of human pseudohypoaldosteronism-1 MG disease and was sex dependent. (nih.gov)
Type II1
- The very rare pseudohypoaldosteronism type II is not discussed here. (msdmanuals.com)
Term1
- Hogg R, Marks J, Marver D, Frolich J. Long-term observation in a patient with pseudohypoaldosteronism. (medscape.com)