pseudohypoaldosteronism

WNK1 and WNK4 mutations have been reported to cause pseudohypoaldosteronism type II (PHAII), an autosomal-dominant disorder characterized by hyperkalemia and hypertension...

b>Pseudohypoaldosteronism (PHA) is a rare heterogeneous syndrome of mineralocorticoid resistance causing insufficient potassium and hydrogen secretion...

..NCC) in Wnk4(D561A/+) knock-in mice, an ideal model of the human hereditary hypertensive disease pseudohypoaldosteronism type II (PHAII)...

..reduced ENaC activity in colon and elevated plasma aldosterone levels, suggesting hypovolemia and pseudohypoaldosteronism type 1...

..mEq/l), hyponatremia, and metabolic acidosis detected in the early postnatal period led to a diagnosis of pseudohypoaldosteronism (PHA)...

Type I pseudohypoaldosteronism, an autosomal recessive, life-threatening disorder of mineralocorticoid resistance leads to excessive loss of sodium chloride through eccrine and other secretions...

Type I pseudohypoaldosteronism (PHA-1) is a rare salt wasting syndrome occurring soon after birth, characterized by apathy and severe dehydration accompanied by hyponatremia, hyperkalemia, and metabolic acidosis despite high plasma ..

The fact that pseudohypoaldosteronism type 1 (PHA-1) patients with a defect in the alpha subunit of epithelial sodium channels (ENaC) in the cochlea have normal hearing suggests compensation by alternative sodium transport mechanisms...

b>Pseudohypoaldosteronism is a rare hereditary disorder presenting in early infancy with renal salt loss leading to hyponatremia and hyperkalemia despite high levels of plasma aldosterone...

b>Pseudohypoaldosteronism type I (PHA1) is a condition associated with salt wasting leading to dehydration, hypotension, hyperkalemia, and metabolic acidosis...

The renal form of pseudohypoaldosteronism type 1 (PHA1) is a rare disease caused by mutations in the human mineralocorticoid receptor gene (NR3C2).

b>Pseudohypoaldosteronism type 1 (PHA-1) is an inherited disease characterized by severe neonatal salt-wasting and caused by mutations in subunits of the amiloride-sensitive epithelial sodium channel (ENaC)...

b>Pseudohypoaldosteronism type 1 (PHA1) is a rare salt-wasting syndrome. Mutations in the NR3C2 gene coding for the mineralocorticoid receptor (MR) cause autosomal dominant PHA1.

Aldosterone plays a key role in electrolyte balance and blood pressure regulation. Type 1 pseudohypoaldosteronism (PHA1) is a primary form of mineralocorticoid resistance characterized in the newborn by salt wasting, hyperkalemia, and ..

Autosomal dominant pseudohypoaldosteronism type 1 (adPHA1) is a rare condition that is characterized by renal resistance to aldosterone, with salt wasting, hyperkalemia, and metabolic acidosis...

We identified a new kindred with the familial syndrome of hypertension and hyperkalemia (pseudohypoaldosteronism type II or Gordon's syndrome) containing an affected father and son...

Multisystem pseudohypoaldosteronism (PHA) is a rare autosomal recessive aldosterone unresponsiveness syndrome that results from mutations in the genes encoding epithelial sodium channel (ENaC) subunits alpha, beta and gamma...

b>Pseudohypoaldosteronism (PHA) is characterized by urinary salt-wasting in infancy resulting from a congenital resistance to aldosterone involving the genes for the mineralocorticoid receptor (MR) and the amiloride-sensitive sodium ..

Multisystem pseudohypoaldosteronism (PHA), is a syndrome of unresponsiveness to aldosterone with autosomal recessive inheritance...

..the human mineralocorticoid receptor (hMR) gene in 14 families with autosomal dominant or sporadic pseudohypoaldosteronism (PHA1), a rare form of mineralocorticoid resistance characterized by neonatal renal salt wasting and ..

b>Pseudohypoaldosteronism type 1 (PHA1) is a rare congenital disease inherited in either an autosomal-recessive or an autosomal-dominant trait...

b>Pseudohypoaldosteronism (PHA) is characterized by congenital resistance of the kidney and/or other mineralocorticoid target tissues to aldosterone, resulting in excessive salt wasting...

b>Pseudohypoaldosteronism type I (PHA1) is characterized by neonatal renal salt wasting with dehydration, hypotension, hyperkalaemia and metabolic acidosis, despite elevated aldosterone levels. Two forms of PHA1 exist...

..The gammaENaC (-/-) newborn exhibits a phenotype that resembles the clinical manifestations of human neonatal PHA1...

b>Pseudohypoaldosteronism type 1 (PHA1, OMIM 264350) is an uncommon inherited disorder characterized by salt-wasting and end-organ unresponsiveness to mineralocorticoids...

Autosomal recessive pseudohypoaldosteronism type I is a rare life-threatening disease characterized by severe neonatal salt wasting, hyperkalaemia, metabolic acidosis, and unresponsiveness to mineralocorticoid hormones...

..In human, autosomal recessive mutations of alpha, beta, or gammaENaC subunits cause pseudohypoaldosteronism type 1 (PHA-1), a renal salt-wasting syndrome characterized by severe hypovolemia, high plasma ..

b>Pseudohypoaldosteronism type 1 (PHA1) is a rare congenital disease characterized by salt loss resistant to mineralocorticoids. Most patients are identified by failure to thrive or poor weight gain in early infancy...

Multi-system pseudohypoaldosteronism (PHA) is a rare syndrome of aldosterone unresponsiveness characterized by symptoms of severe salt-losing caused by mutations in one of the genes that encode alpha, beta or gamma subunit of epithelial ..

..who had multiple hormonal and electrolyte abnormalities consistent with the diagnosis of transient pseudohypoaldosteronism. MATERIALS AND METHODS: We retrospectively reviewed these 2 cases...

Type I pseudohypoaldosteronism (PHA1) is a rare form of mineralocorticoid resistance characterized by neonatal renal salt wasting and failure to thrive...

To study patients with autosomal recessive pseudohypoaldosteronism type 1 and to relate pulmonary disease to gene mutations of the epithelial sodium channel (ENaC).

b>Pseudohypoaldosteronism (PHA) type 1 presents in infancy with potential life-threatening salt wasting and failure to thrive. Plasma renin activity and aldosterone levels are markedly elevated...

b>Pseudohypoaldosteronism type 1 (PHA1) is characterized by neonatal salt wasting resistant to mineralocorticoids...

b>Pseudohypoaldosteronism type 1 (PHA1) is a rare condition characterized by neonatal salt loss with dehydration, hypotension, hyperkalemia, and metabolic acidosis, despite elevated plasma aldosterone levels and PRA...

..The phenotype of the betaENaC-deficient mice is similar to that of humans with pseudohypoaldosteronism type 1 and may provide a useful model to study the pathogenesis and treatment of this disorder.

..An endocrinological evaluation led to a diagnosis of pseudohypoaldosteronism. The patient had phimosis, but no congenital urinary tract malformations...

..Here, we review roles of WNK kinases in the regulation of ion balance, cell signaling, survival, and proliferation, and embryonic organ development...

..domain and the ligand-binding domain (LBD) and are associated with autosomal dominant or sporadic type I pseudohypoaldosteronism. All mutant receptors bound specifically to glucocorticoid-responsive elements but presented modified ..

..The present review summarizes recent literature and discusses the potential roles of WNKs in the pathogenesis of essential hypertension...

..also allowed obtaining adult knockdown rats with defects in hormone and electrolyte homeostasis resembling pseudohypoaldosteronism. In conclusion, this is the first example of a human disease model based on RNA interference in rats.

Type 1 pseudohypoaldosteronism (PHA1) is a salt-wasting syndrome caused by mineralocorticoid resistance...

Mineralocorticoid resistance, also known as type I pseudohypoaldosteronism (PHA1), is a rare inherited disease characterized by salt wasting, dehydration and failure to thrive in the newborn...

..Previous work has shown that mutations in WNK4 cause pseudohypoaldosteronism type II (PHAII), a disease featuring hypertension with hyperkalemia, due to altered activity of specific ..

..high excretion of aldosterone metabolite THAldo without effects of aldosterone action, what resulted in pseudohypoaldosteronism (PHA) diagnosis...

..Cai et al. report that the inhibitory effect of WNK4 on the thiazide-sensitive sodium-chloride cotransporter occurs through the lysosomal degradation pathway in mammalian cells...

BACKGROUND: The renal form of pseudohypoaldosteronism type 1 (PHA1) is a rare disease characterized by congenital mineralocorticoid resistance of the kidney...

b>Pseudohypoaldosteronism type 1 (PHA1) is a rare genetic disease characterized by neonatal renal salt wasting, vomiting, dehydration and failure to thrive...

Familial hyperkalaemia and hypertension (FHH), also termed pseudohypoaldosteronism type II, is a rare monogenic form of hypertension caused by mutations in the WNK1 or WNK4 kinases...

....

..Liddle syndrome should be considered as a cause of hypertension in young children particularly with suppressed renin activity...

..This mutation results in constitutive MR activity and alters receptor specificity for progesterone. Pseudohypoaldosteronism type 1 (PHA1) is characterized by congenital aldosterone resistance of the kidney and/or other ..

..Loss-of-function mutations in all 3 subunits of ENaC cause hypotension (pseudohypoaldosteronism type I). Thus, all 3 subunits can be mutated, causing either hyper- or hypotension...

..They suggest that ion transport alterations in renal graft recipients are in part induced by impaired hMR function...

b>Pseudohypoaldosteronism type 1 (PHA1) is a rare inherited disorder characterized by salt-wasting due to target organ unresponsiveness to mineralocorticoids...

..regulation has come from the molecular analysis of two human genetic diseases, Liddle's syndrome and pseudohypoaldosteronism type 1 (PHA-1)...

..alterations in genes of a novel serine-threonine kinase family (WNK1 and WNK4) were identified causing pseudohypoaldosteronism type II. The molecular pathway of this syndrome remains unclear...

..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...

b>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...

..CONCLUSION : These results demonstrate further genetic heterogeneity and that a fourth gene is responsible for FHH in at least two unrelated kindreds. They suggest a variety of molecular defects leading to FHH...

..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 ..

In transient pseudohypoaldosteronism (TPHA), renal tubular resistance to aldosterone is thought to be secondary to renal disease...

..function in Liddle's syndrome, a form of hereditary hypertension, or by decreasing channel function in pseudohypoaldosteronism type I, a salt-wasting disease in infancy...

..synthesis of aldosterone, or resistance to the ion transport effects of aldosterone, such as are seen in pseudohypoaldosteronism type I (PHA I)...

Targeted disruption of mineralocorticoid receptor (MR) gene results in pseudohypoaldosteronism type I with failure to thrive, severe dehydration, hyperkalemia, hyponatremia, and high plasma levels of renin, angiotensin II, and ..

To describe a case of presumptive secondary pseudohypoaldosteronism (PHA) in a cat with urinary tract infection and chronic urethral obstruction...

....

..genes encoding members of a novel family of serine-threonine kinases, have recently been shown to cause pseudohypoaldosteronism type II (PHAII), an autosomal dominant disorder featuring hypertension, hyperkalemia, and renal tubular ..

Autosomal dominant pseudohypoaldosteronism type 1 is caused by mutations in the mineralocorticoid receptor (NR3C2) gene, often leading to life-threatening hyponatremia and hyperkalemia in the newborn period...

..This region contains the WNK4 gene that causes the mendelian disorder pseudohypoaldosteronism type II, characterized by high potassium levels and hypertension...

The mineralocorticoid receptor knock-out mouse (MR-/-), resembling inborn pseudohypoaldosteronism, dies 8-12 days after birth in circulatory failure with all the signs of terminal volume contraction...

Mutations in the kinase WNK4 cause pseudohypoaldosteronism type II (PHAII), a syndrome featuring hypertension and high serum K(+) levels (hyperkalemia)...

..in the serine-threonine kinases WNK1 and WNK4 [with no lysine (K) at a key catalytic residue] cause pseudohypoaldosteronism type II (PHAII), a Mendelian disease featuring hypertension, hyperkalemia, hyperchloremia, and metabolic ..

Missense mutations in the WNK4 gene have been postulated to cause pseudohypoaldosteronism type II, an autosomal-dominant disorder characterized by hyperkalemia and hypertension...

..results are related to clinical findings, in particular the increased MCC observed in patients with pseudohypoaldosteronism. Recent important advances by several groups in modelling the fluid-structure interaction by which the ..

..0% per minute) reported in systemic pseudohypoaldosteronism, which has loss-of-function mutations of the epithelial Na+ channel and an increased volume of airway ..

..The latter develop pseudohypoaldosteronism type 1, i.e...

..It is of interest that this region also contains Wnk4, a gene previously identified to cause pseudohypoaldosteronism type II and human hypertension...

Familial hyperkalemia and hypertension (FHH; pseudohypoaldosteronism type II) is an autosomal dominant disorder characterized by hyperkalemia, hypertension, and low renin...

..In addition, conditions such as Gitelman's syndrome, distal renal tubular acidosis and pseudohypoaldosteronism type II, as well as a mitochondrial defect associated with hypomagnesaemia, all change the renal handling ..

..channel (ENaC), which can be directly affected by mutations (eg, Liddle syndrome, autosomal recessive pseudohypoaldosteronism, type I) or by changes in the response to (autosomal recessive pseudohypoaldosteronism, type I), or ..

..This is clearly demonstrated by rare genetic disorders of sodium-channel activity (Liddle's syndrome and pseudohypoaldosteronism type 1), associated with contrasting effects on blood pressure...

..defects due to mutations in the channel subunits themselves, or in the mineralocorticoid receptor (pseudohypoaldosteronism, type I) also affect blood pressure regulation consequent to renal salt wasting and dysregulation of the ..

..Mutations of 2 family members, WNK1 and WNK4, cause pseudohypoaldosteronism type 2 (PHA2), an autosomal-dominant disease characterized by hypertension and hyperkalemia...

..Intronic deletions of WNK1 that increase WNK1 transcript cause pseudohypoaldosteronism type 2, an autosomal-dominant disease characterized by hypertension and hyperkalemia...

..This is clearly demonstrated by rare genetic disorders of sodium channel activity (Liddle's Syndrome and Pseudohypoaldosteronism type 1 associated with contrasting effects on blood pressure)...

b>Pseudohypoaldosteronism type II (PHAII) is an autosomal dominant disorder of hyperkalemia and hypertension. Mutations in two members of the WNK kinase family, WNK1 and WNK4, cause the disease...

..produce the autosomal dominant disorder familial hyperkalemia and hypertension (FHH), also known as pseudohypoaldosteronism type II, by a molecular mechanism that is not completely understood...

Mutations in the serine-threonine kinase WNK4 [with no lysine (K) 4] cause pseudohypoaldosteronism type II, a Mendelian disease featuring hypertension with hyperkalemia...

..Mutations in WNK4 cause pseudohypoaldosteronism type II (PHAII), a disease featuring increased renal NaCl reabsorption and impaired K(+) secretion...

..Mutations in WNK1 and WNK4 kinases are found to cause pseudohypoaldosteronism type II (PHA II), also referred to as Gordon syndrome...

..syndrome), or conversely, decrease activity of channels leading to salt-wasting and hypovolemic states (pseudohypoaldosteronism)...

..The association of ENaC mutations with Liddle's syndrome and PHA-1 (pseudohypoaldosteronism type 1) as well as the tight and complex regulation of ENaC by aldosterone indicates the importance of ..

..The association of ENaC mutations with Liddle's syndrome and PHA-1 (pseudohypoaldosteronism type 1) as well as the tight and complex regulation of ENaC by aldosterone indicates the importance of ..

..Abnormalities in channel functions can be life threatening in diseases such as Liddle's syndrome, pseudohypoaldosteronism (PHA), cystic fibrosis (CF) and renal and cardiovascular pathology...

..Recently, a hypertensive disorder, pseudohypoaldosteronism type II, has been shown to result from mutations in WNK (without lysine) kinases...

..Mutations in WNK4 kinase have been linked to hypertension in pseudohypoaldosteronism type II (PHAII)...

..Mutations in WNK4 kinase have been linked to hypertension in pseudohypoaldosteronism type II (PHAII)...

..clearance, specifically primary ciliary dyskinesia (PCD), variant forms of cystic fibrosis (CF), and pseudohypoaldosteronism (PHA)...

..by aldosterone, but could also lead to the identification of genetic defects resulting in derangement of Na homeostasis, leading to hypertension (as in Liddle syndrome) or salt wasting (as in pseudohypoaldosteronism).

..underlie the pathophysiology of several important human diseases such as salt-sensitive hypertension and pseudohypoaldosteronism type I, and defects in these channels have been associated with cystic fibrosis and epilepsy...

..Loss of function mutations in hENaC cause Na+ wasting (pseudohypoaldosteronism type 1)...

..Na homeostasis and blood pressure in normal and disease states including Liddle's syndrome and Type 1 pseudohypoaldosteronism (PHA1)...

Familial Hyperkalemic Hypertension (FHHt, also known as Type II Pseudohypoaldosteronism or Gordon's syndrome) is a disorder of elevated blood pressure and potassium levels, and is phenotypically the "mirror image" of Gitelman's syndrome...

..The structural and functional constraints conferred by Bartter's mutation will be examined by screening libraries of ROMK constructed by saturation mutagenesis in a potassium uptake-defective yeast strains. ..

..The biochemical studies will be correlated with electrophysiological recording of channel activity. ..

..Biochemical binding assay and patch-clamp recording will be performed to examine this hypothesis. ..