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Pseudohyperaldosteronism

Pseudoaldosteronism is a group of disorders that clinically resemble mineralocorticoid excess but laboratory findings show a suppressed aldosterone. These diseases can be caused by increased aldosterone sensitivity or overlapping actions of other steroid hormones on the mineralocorticoid system.

Systematic

Disorder of the aldosterone system
Hyperaldosteronism
Hypoaldosteronism
Pseudohyperaldosteronism
Apparent mineralocorticoid excess
HSD11B2
Liddle syndrome
NEDD4
NEDD4L
NR3C2
OXSR1
SCNN1B
SCNN1G
STK39
Pregnancy exacerbated hypertension
NR3C2
Pseudohypoaldosteronism

References:

1.

Abriel H et al. (1999) Defective regulation of the epithelial Na+ channel by Nedd4 in Liddle's syndrome.

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2.

Scheinman SJ et al. (1999) Genetic disorders of renal electrolyte transport.

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3.

Nakada T et al. (1987) Liddle's syndrome, an uncommon form of hyporeninemic hypoaldosteronism: functional and histopathological studies.

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4.

Gardner JD et al. (1971) Abnormal membrane sodium transport in Liddle's syndrome.

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5.

Wang C et al. (1981) The effect of triamterene and sodium intake on renin, aldosterone, and erythrocyte sodium transport in Liddle's syndrome.

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6.

Rodriguez JA et al. (1981) Pseudohyperaldosteronism with renal tubular resistance to mineralocorticoid hormones.

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7.

Hansson JH et al. (1995) Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome.

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8.

Shimkets RA et al. (1994) Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel.

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9.

Botero-Velez M et al. (1994) Brief report: Liddle's syndrome revisited--a disorder of sodium reabsorption in the distal tubule.

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10.

Canessa CM et al. (1993) Epithelial sodium channel related to proteins involved in neurodegeneration.

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11.

Snyder PM et al. (1995) Mechanism by which Liddle's syndrome mutations increase activity of a human epithelial Na+ channel.

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12.

Baker E et al. (1998) Abnormalities of nasal potential difference measurement in Liddle's syndrome.

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13.

OMIM.ORG article

Omim 177200 external link
14.

Orphanet article

Orphanet ID 88660 external link
15.

Wikipedia article

Wikipedia EN (Pseudohyperaldosteronism) external link
Update: June 23, 2025
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