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These infants may also experience severe hyperkalemia with potassium (K +) levels exceeding 10 mEq/L, along with significant metabolic acidosis. Hypoglycemia (low blood sugar) might also be observed. This collection of manifestations is referred to as a "salt-wasting crisis" which poses an imminent risk of fatal consequences if left untreated. [23]
Bartter syndrome (BS) is a rare inherited disease characterised by a defect in the thick ascending limb of the loop of Henle, which results in low potassium levels (hypokalemia), [2] increased blood pH , and normal to low blood pressure. There are two types of Bartter syndrome: neonatal and classic.
In 11-hydroxylase deficiency, 11-deoxycorticosterone is produced in such excess that it acts to retain sodium at the expense of potassium. It is this reason that patients with 11-hydroxylase deficiency do not show salt wasting (although sometimes they do in infancy), and instead have hypertension/water retention and sometimes hypokalemia.
Cerebral salt-wasting syndrome (CSWS), also written cerebral salt wasting syndrome, is a rare endocrine condition featuring a low blood sodium concentration and dehydration in response to injury (trauma) or the presence of tumors in or surrounding the brain. In this condition, the kidney is functioning normally but excreting excessive sodium. [1]
Secondary hyperaldosterone can be caused by a genetic mutation in the kidneys which causes sodium and potassium wasting. These conditions can be referred to syndromes such as Bartter syndrome and Gitelman syndrome. [8] Pseudohyperaldosteronism mimicks hyperaldosteronism without increasing aldosteron levels.
This abnormality is a paraneoplastic syndrome (i.e. caused by hyperplasia or tumors). About 35% of the cases are caused by a single aldosterone-secreting adenoma, a condition known as Conn's syndrome. [7] [8] Many patients experience fatigue, potassium deficiency and high blood pressure which may cause poor vision, confusion or headaches.
Disease states that lead to abnormally high aldosterone levels can cause hypertension and excessive urinary losses of potassium. These include renal artery stenosis and tumors (generally nonmalignant) of the adrenal glands, e.g., Conn's syndrome (primary hyperaldosteronism ).
Gitelman syndrome (GS) is an autosomal recessive kidney tubule disorder characterized by low blood levels of potassium and magnesium, decreased excretion of calcium in the urine, and elevated blood pH. [2] It is the most frequent hereditary salt-losing tubulopathy. Gitelman syndrome is caused by disease-causing variants on both alleles of the ...