Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Pseudohyperaldosteronismus

Der Pseudoaldosteronismus ist durch klinische Symptome eines Hyperaldosteronismus bei stark supprimierten Aldosteronspiegel charakterisiert. Die Ursache dieser Erkrankung kann eine vermehrte Aldosteronempfindlichkeit, oder eine übergreifende Wirkung anderer Steroidhormone auf das Mineralocortocoidsystem hervorgerufen werden.

Gliederung

Störungen des Aldosteronsystems
Hyperaldosteronismus
Hypoaldosteronismus
Pseudohyperaldosteronismus
Apparenter Mineralocortocoid Exzess
HSD11B2
Liddle-Syndrom
NEDD4
NEDD4L
NR3C2
OXSR1
SCNN1B
SCNN1G
STK39
Schwangerschaftsexazerbierter Hypertonus
NR3C2
Pseudohypoaldosteronismus

Referenzen:

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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