What is Pseudohypoaldosteronism type 1b?
Pseudohypoaldosteronism type 1 (PHA1) is a condition characterized by problems regulating the amount of sodium in the body. Sodium regulation, which is important for blood pressure and fluid balance, primarily occurs in the kidneys.
How is Pseudohypoaldosteronism diagnosed?
The diagnosis is suspected based on clinical findings of hypovolemia, high serum potassium, low serum sodium, high renin and aldosterone levels, particularly in infants with a positive family history. The diagnosis is confirmed by genetic testing.
What causes Pseudohypoaldosteronism?
Pseudohypoaldosteronism type 2 is caused by mutations in either the WNK1 or WNK4 genes . Mutations in these genes cause salt retention and impaired excretion of potassium and acid, leading to high blood pressure , hyperkalemia (high levels of potassium), and metabolic acidosis.
How is Pseudohypoaldosteronism treated?
Patients with pseudohypoaldosteronism (PHA) who are experiencing hypovolemia and shock should receive fluid resuscitation with isotonic sodium chloride solution at 20 mL/kg over 30-60 minutes. Fluid boluses may be repeated until signs of improved perfusion to vital organs are observed.
What causes secondary hyperaldosteronism?
Secondary hyperaldosteronism occurs due to excessive activation of the renin-angiotensin-aldosterone system (RAAS). This activation can be due to a renin-producing tumor, renal artery stenosis, or edematous disorders like left ventricular heart failure, pregnancy, cor pulmonale, or cirrhosis with ascites.
What does hyperaldosteronism mean?
Hyperaldosteronism is a disorder in which the adrenal gland releases too much of the hormone aldosterone into the blood.
What is Pseudoaldosteronism?
Pseudohyperaldosteronism (also pseudoaldosteronism) is a medical condition which mimics the effects of elevated aldosterone (hyperaldosteronism) by presenting with high blood pressure (hypertension), low blood potassium levels (hypokalemia), metabolic alkalosis, and low levels of plasma renin activity (PRA).
What are the causes of PHA?
Autosomal-dominant type 1 pseudohypoaldosteronism (PHA type I) is caused by inactivating mutations in the mineralocorticoid receptor. Approximately 20 different mutations have been found in this receptor, which interfere with mineralocorticoid binding and gene transcription.
Is hyperaldosteronism an autoimmune disease?
Background. Primary hyperaldosteronism is a known cause for secondary hypertension. In addition to its effect on blood pressure, aldosterone exhibits proinflammatory actions and plays a role in immunomodulation/development of autoimmunity.
How is hyperaldosteronism diagnosis?
Primary hyperaldosteronism is diagnosed by measuring the blood levels of aldosterone and renin (a hormone made by the kidney). To best measure these hormones, blood samples should be drawn in the morning. In primary hyperaldosteronism, the aldosterone level will be high while renin will be low or undetectable.
What are the clinical features of pseudohypoaldosteronism Type 1?
Type 1 pseudohypoaldosteronism (PHA) is a rare heterogeneous group of disorders characterised by resistance to aldosterone action. There is resultant salt wasting in the neonatal period, with hyperkalaemia and metabolic acidosis. Only after results confirm isolated resistance to aldosterone can the diagnosis of type 1 PHA be confidently made.
Are there different types of aldosterone in PHA1?
However, people with PHA1 have high levels of aldosterone. There are two types of PHA1 distinguished by their severity, the genes involved, and how they are inherited.
Are there two types of autosomal dominant PHA1?
There are two types of PHA1 distinguished by their severity, the genes involved, and how they are inherited. One type, called autosomal dominant PHA1 (also known as renal PHA1) is characterized by excessive sodium loss from the kidneys. This form of the condition is relatively mild and often improves in early childhood.
How is PHA2 related to Gordon’s syndrome?
In contrast, PHA2 (Gordon’s syndrome) requires salt restriction and use of thiazide diuretics to block sodium chloride reabsorption and normalise blood pressure and serum potassium. This syndrome was first described by Cheek and Perry in 1958.