pseudohypoaldosteronism

pseudohypoaldosteronism

 [soo″do-hi″po-al-dos´ter-ōn-izm]
a hereditary disorder of infancy, characterized by severe salt loss by the kidneys despite elevated secretion and urinary excretion of aldosterone; it is thought to be due to unresponsiveness of the distal renal tubule to aldosterone.

pseudohypoaldosteronism

/pseu·do·hy·po·al·dos·ter·on·ism/ (-hi″po-al-dos´ter-ōn-izm)
1. a hereditary disorder of infancy characterized by severe salt and water depletion and other signs of aldosterone deficiency, although aldosterone secretion is normal or increased; causes include aldosterone receptor defects and renal dysfunction.
2. the endocrine abnormality associated with sodium-losing nephropathy, usually due to chronic pyelonephritis, seen primarily in adults.

pseudohypoaldosteronism

[-hī′pōaldos′tərōn′izəm]
1 a hereditary disorder of infancy characterized by severe salt and water depletion and other signs of aldosterone deficiency, even though normal or elevated amounts of aldosterone are secreted. Causes include aldosterone receptor defects and renal dysfunction. Some affected infants outgrow the need for dietary salt supplements in early childhood.
2 the endocrine abnormality associated with sodium-losing nephropathy, usually resulting from chronic pyelonephritis, seen primarily in adults. See also Gordon's syndrome.

pseudohypoaldosteronism

A heterogeneous group of salt wasting syndromes due to distal renal tubular insensitivity to mineralocorticoids–eg, aldosterone or due to a defect in the mineralocortioid receptor in the colonic mucosa, salivary gland, sweat glands, resulting in salt loss but normal adrenocortical and renal function, and a hyperactive renin-angiotensin system. Cf Hypoaldosteronism Types Type I Albright's hereditary osteodystrophy More common, and is almost invariably X-linked MIM 300100; AD MIM 103580 cases–designated type IA have been reported; there is inadequate cAMP response to PTH; Type II Due to inadequate end-organ response to ↑cAMP levels; affected children are short and stocky with a round facies, brachydactyly, tetany, foci of bony demineralization, osteitis fibrosa.

pseudohypoaldosteronism

an unresponsiveness of the distal renal tubule to aldosterone, resulting in severe loss of salt in the urine, despite elevated secretion and urinary excretion of aldosterone. An inherited disorder in humans.
References in periodicals archive ?
A small sampling of topics: thyroid hormone transporters and resistance, clinical and molecular aspects of androgen insensitivity, pseudohypoaldosteronism, current issues on molecular diagnosis of GH signaling defects, and human congenital perilipin deficiency and insulin resistance.
Lung symptoms in pseudohypoaldosteronism type 1 are associated with deficiency of the alpha-subunit of the epithelial sodium channel.
Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1.
The increased renin and aldosterone concentrations in the presence of hyponatremia and hyperkalemia were consistent with a diagnosis of pseudohypoaldosteronism type 1 (PHA1).
Ved was diagnosed with a rare condition called pseudohypoaldosteronism when he was nine months old and had to take regular supplements.
Ved, described by his parents as a happy and lively lad, had been diagnosed with a rare condition called pseudohypoaldosteronism when he was nine months old.
Growth hormone activates renin-aldosterone system in children with idiopathic short stature and in a pseudohypoaldosteronism patient with a mutation in epithelial sodium channel alpha subunit.
A Novel Nonsense Mutation of the Mineralocorticoid Receptor Gene in a Swedish Family with Pseudohypoaldosteronism Type I (PHA1).
Pseudohypoaldosteronism with increased sweat and saliva electrolyte values and frequent lower respiratory tract infections mimicking cystic fibrosis.
Michelle, four, is the only person in Scotland with pseudohypoaldosteronism (PHS) - which means she has very low levels of salt in her blood and could die at any time.
Mice with reduced levels of the WNK1 gene product demonstrated a medically desirable profile of low blood pressure, consistent with the observation that over-expression of this gene has been directly linked to a form of hypertension in humans, pseudohypoaldosteronism type II.
Their efforts focus on human genetic models of disease, including cystic fibrosis (CF), primary ciliary dyskinesia (PCD), and more unusual genetic disorders, such as pseudohypoaldosteronism (PHA).

Full browser ?