Pseudohypoaldosteronism
Encyclopedia
Pseudohypoaldosteronism is a condition that mimics hypoaldosteronism
Hypoaldosteronism
In medicine , hypoaldosteronism refers to decreased levels of the hormone aldosterone.The term "isolated hypoaldosteronism" is used to describe lowered aldosterone without corresponding changes in cortisol...

. However, the condition is due to a failure of response to aldosterone
Aldosterone
Aldosterone is a hormone that increases the reabsorption of sodium ions and water and the release of potassium in the collecting ducts and distal convoluted tubule of the kidneys' functional unit, the nephron. This increases blood volume and, therefore, increases blood pressure. Drugs that...

, and levels of aldosterone
Aldosterone
Aldosterone is a hormone that increases the reabsorption of sodium ions and water and the release of potassium in the collecting ducts and distal convoluted tubule of the kidneys' functional unit, the nephron. This increases blood volume and, therefore, increases blood pressure. Drugs that...

 are actually elevated, due to a lack of feedback.

These conditions also involve hyperkalemia
Hyperkalemia
Hyperkalemia refers to the condition in which the concentration of the electrolyte potassium in the blood is elevated...

.

Types include:
Type OMIM Gene Description
PHA1AD MLR
Mineralocorticoid receptor
The mineralocorticoid receptor , also known as the aldosterone receptor or nuclear receptor subfamily 3, group C, member 2, is a protein that in humans is encoded by the NR3C2 gene that is located on chromosome 4q31.1-31.2.MR is a receptor with high affinity for mineralocorticoids...

with sodium wasting
PHA1AR SCNN1A
SCNN1A
Amiloride-sensitive sodium channel subunit alpha is a protein that in humans is encoded by the SCNN1A gene.-Interactions:SCNN1A has been shown to interact with NEDD4L, Ubiquitin C and NEDD4.- External links :...

, SCNN1B
SCNN1B
Amiloride-sensitive sodium channel subunit beta is a protein that in humans is encoded by the SCNN1B gene.-Interactions:SCNN1B has been shown to interact with WWP2 and NEDD4.-External links:...

, SCNN1G
SCNN1G
Amiloride-sensitive sodium channel subunit gamma is a protein that in humans is encoded by the SCNN1G gene.-Interactions:SCNN1G has been shown to interact with STX1A, Ubiquitin C and NEDD4.- External links :...

 of the epithelial sodium channel
Epithelial sodium channel
The epithelial sodium channel is a membrane-bound ion-channel that is permeable for Li+-ions, protons and especially Na+-ions. It is a constitutively active ion-channel...

with sodium wasting
PHA2 WNK4
WNK4
Serine/threonine-protein kinase WNK4 also known as WNK lysine deficient protein kinase 4 or WNK4, is an enzyme that in humans is encoded by the WNK4 gene.- Function :The WNK4 gene encodes a serine-threonine kinase expressed in distal nephron...

, WNK1
WNK1
WNK lysine deficient protein kinase 1, also known as WNK1, is an enzyme which in humans is encoded by the WNK1 gene. The human gene is located on short arm of chromosome 12 .WNK1 is also known as Human Accelerated Region 5...

without sodium wasting. TRPV6
TRPV6
TRPV6 is a membrane calcium channel which is responsible for the first step in calcium absorption in the intestine. It was first named CAT1, or ECaC2, and has been described in the intestine in several species, including humans. It is located in the apical brush-border membrane of the intestinal...

 may be involved.

External Links


See also

  • Hyperchloremic acidosis
    Hyperchloremic acidosis
    Hyperchloremic acidosis is a form of metabolic acidosis associated with a normal anion gap, a decrease in plasma bicarbonate concentration, and in an increase in plasma chloride concentration .-Causes:...

  • Pseudohyperaldosteronism
    Pseudohyperaldosteronism
    Pseudohyperaldosteronism is a medical condition that mimics hyperaldosteronism. Like hyperaldosteronism, it produces hypertension associated with low plasma renin activity, and metabolic alkalosis associated with hypokalemia...

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