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.
What causes Gordon syndrome?
Gordon syndrome is caused by genetic changes ( mutations ) in the PIEZO2 gene and can be inherited in an autosomal dominant pattern. Gordon syndrome is diagnosed by clinical examination and genetic testing . Treatment is directed at the symptoms and includes surgery and physical therapy to loosen the joints.
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 is Baker Gordon syndrome?
Baker-Gordon syndrome (BAGOS) is a neurodevelopmental disorder characterized by infantile hypotonia, ophthalmic abnormalities, moderate to profound global developmental delay, poor or absent speech, behavioral abnormalities, hyperkinetic movements, and EEG abnormalities in the absence of overt seizures (summary by …
Is Pseudohypoaldosteronism a genetic disorder?
This condition is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases caused by mutations in the WNK1, WNK4, or KLHL3 gene, an affected person inherits the mutation from one affected parent .
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 common is Gordon syndrome?
Gordon syndrome is an extremely rare disorder that belongs to a group of genetic disorders known as the distal arthrogryposes. These disorders typically involve stiffness and impaired mobility of certain joints of the lower arms and legs (distal extremities) including the knees, elbows, wrists, and/or ankles.
How is Liddle syndrome treated?
Treatment for Liddle syndrome consists of following a low sodium diet and taking potassium-sparing diuretics, which reduce blood pressure and correct hypokalemia and metabolic alkalosis. Conventional anti-hypertensive therapies are not effective for this condition.
What is Gitelman syndrome?
Gitelman syndrome is a kidney disorder that causes an imbalance of charged atoms (ions) in the body, including ions of potassium, magnesium, and calcium. The signs and symptoms of Gitelman syndrome usually appear in late childhood or adolescence.
How is Liddle syndrome diagnosed?
Diagnosis is suggested by the presence of hypertension in a young patient, particularly one with a positive family history. Low urine sodium (< 20 mEq, or 20 mmol/L), low plasma renin and aldosterone levels, and response to empiric treatment usually are considered sufficient to confirm the diagnosis.
Is Liddle syndrome fatal?
Some people with Liddle syndrome have no additional signs or symptoms, especially in childhood. Over time, however, untreated hypertension can lead to heart disease or stroke , which may be fatal. In addition to hypertension, affected individuals can have low levels of potassium in the blood (hypokalemia).
What is type 2 pseudohypoaldosteronism (Gordon syndrome)?
Type 2 pseudohypoaldosteronism is also known as Gordon syndrome or familial hyperkalemic hypertension. It is a mirror image of Gitelman syndrome, with hyperkalemia, metabolic acidosis, and hypercalciuria, although serum magnesium levels are normal.
How is pseudohypoaldosteronism 2 diagnosed?
Pseudohypoaldosteronism type 2 is usually diagnosed in adults. Unexplained hyperkalemia may be the presenting symptom and Pseudohypoaldosteronism type 2 may be diagnosed after common causes of hyperkalemia have been ruled out.
What is Gordon’s syndrome Pha II?
Pseudohypoaldosteronism type II (PHA-II; OMIM 145260), also known as Gordon’s syndrome, is a volume-dependent low-renin form of hypertension characterized by persistent hyperkalemia despite a normal GFR. Hypertension is attributable to increased renal salt reabsorption; hyperkalemia to reduced renal K+ excretion.
What is the difference between hyperkalemia and pseudohypoaldosteronism?
Frequently, hyperkalemia presents first and hypertension may occur later. Pseudohypoaldosteronism (PHA) is a state of renal tubular (and other tissue) unresponsiveness to the action of aldosterone.23 Symptoms start in early infancy with marked salt wasting and failure to thrive.