pseudohypoaldosteronism/kalín

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Lack of effect of aldosterone on intracellular sodium and potassium in mononuclear leucocytes from patients with pseudohypoaldosteronism.

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In three patients with pseudohypoaldosteronism the effects of aldosterone on intracellular sodium and potassium were studied and compared with normal controls in whom aldosterone prevents the loss of sodium and potassium in vitro. Mononuclear leukocytes were incubated with or without aldosterone

Dietary potassium restriction attenuates urinary sodium wasting in the generalized form of pseudohypoaldosteronism type 1.

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Owing to its rarity and severe nature, the treatment for generalized pseudohypoaldosteronism type 1 (PHA1), a genetic disorder in the epithelial sodium channel (ENaC), is exclusively experience-based. In particular, the usefulness of dietary potassium restriction in PHA1 remains unclear with the

Type 2 pseudohypoaldosteronism: new insights into renal potassium, sodium, and chloride handling.

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Correction to: Dietary potassium restriction attenuates urinary sodium wasting in the generalized form of pseudohypoaldosteronism type 1.

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In the Original publication of the article, there are two minor errors in Fig. 2 and these include one missing arrow in Fig. 2d and appears as an incorrectly drawn solid lines as dashed line in Fig. 2d.

A new kindred with pseudohypoaldosteronism type II and a novel mutation (564D>H) in the acidic motif of the WNK4 gene.

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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. Mutation analysis confirmed a single heterozygous G to C substitution within exon 7 (1690G>C) that causes a missense

Pseudohypoaldosteronism type 1 due to novel variants of SCNN1B gene.

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Autosomal recessive pseudohypoaldosteronism type 1 (PHA1) is a rare disorder characterized by sodium wasting, failure to thrive, hyperkalemia, hypovolemia and metabolic acidosis. It is due to mutations in the amiloride-sensitive epithelial sodium channel (ENaC) and is characterized by diminished

An infant presenting with failure to thrive and hyperkalaemia owing to transient pseudohypoaldosteronism: case report.

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A 3-month-old boy presented with failure to thrive and a history of a prenatally detected unilateral hydroureteronephrosis which was confirmed after birth. His growth and developmental milestones had been normal during the first 2 months but in the third month his appetite was poor with reduced

An inducible transgenic mouse model for familial hypertension with hyperkalaemia (Gordon's syndrome or pseudohypoaldosteronism type II).

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Mutations in the novel serine/threonine WNK [With No lysine (=K)] kinases WNK1 and WNK4 cause PHAII (pseudohypoaldosteronism type II or Gordon's syndrome), a rare monogenic syndrome which causes hypertension and hyperkalaemia on a background of a normal glomerular filtration rate. Current animal

[Multiple type I pseudohypoaldosteronism: neonatal management and outcome].

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Multiple type I pseudohypoaldosteronism (PHA-I) is an autosomal recessive condition with multiple target-organ unresponsiveness to aldosterone, manifested early after birth with severe salt-wasting and hyperkalemia. Case 1. Female infant born at term after an uneventful pregnancy. One female sibling

Impaired rapid mineralocorticoid action on free intracellular calcium in pseudohypoaldosteronism.

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Earlier observations on impaired in vitro effects of aldosterone on lymphocytic sodium and potassium pointed to the involvement of a defective nongenomic rather than genomic effector in pseudohypoaldosteronism. In this study, we investigated nongenomic aldosterone action in five patients with

Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism.

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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 failure to thrive. Inactivating mutations of the

A partial form of pseudohypoaldosteronism type I without renal sodium wasting.

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Multiple target organ involvement in pseudohypoaldosteronism is known but partial defects involving only a single organ system have also been described. In this report we present a girl with early symptoms and a very mild course of the disease without renal salt wasting and with normal sweat

Pseudohypoaldosteronism due to sweat gland dysfunction.

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Pseudohypoaldosteronism is an uncommon disorder characterized by urinary sodium wasting and is attributed to a defect in distal renal tubular sodium handling with failure to respond to endogenous aldosterone. Sweat electrolyte values in other reported patients, when measured, have been normal. A

A patient with pseudohypoaldosteronism type II complicated by congenital hypopituitarism carrying a KLHL3 mutation.

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Pseudohypoaldosteronism type II (PHA II) is a renal tubular disease that causes hyperkalemia, hypertension, and metabolic acidosis. Mutations in four genes (WNK4, WNK1, KLHL3, and CUL3) are known to cause PHA II. We report a patient with PHA II carrying a KLHL3 mutation, who also had congenital

A novel mutation in KCNJ1 in a Bartter syndrome case diagnosed as pseudohypoaldosteronism.

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Bartter syndrome (BS) is a genetic disorder with hypokalemic metabolic alkalosis and is classified into five types. One of these, type II BS (OMIM 241200), is classified as neonatal Bartter syndrome, which is caused by mutations in the KCNJ1 gene. Transient hyperkalemia and hyponatremia are usually

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