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Hyperkalemic periodic paralysis. Hyperkalemic periodic paralysis (HYPP, HyperKPP) is an inherited autosomal dominant disorder that affects sodium channels in muscle cells and the ability to regulate potassium levels in the blood. It is characterized by muscle hyperexcitability or weakness which, exacerbated by potassium, heat or cold, can lead ...
[3] [4] Typically hyperkalemia does not cause symptoms. [1] Occasionally when severe it can cause palpitations, muscle pain, muscle weakness, or numbness. [1] [2] Hyperkalemia can cause an abnormal heart rhythm which can result in cardiac arrest and death. [1] [3] Common causes of hyperkalemia include kidney failure, hypoaldosteronism, and ...
Thyrotoxic periodic paralysis (TPP) is a rare condition featuring attacks of muscle weakness in the presence of hyperthyroidism (overactivity of the thyroid gland). Hypokalemia (a decreased potassium level in the blood) is usually present during attacks. The condition may be life-threatening if weakness of the breathing muscles leads to ...
Symptoms can include sudden shortness of breath, sharp chest pain that can become worse when breathing in, a cough that can contain blood, leg pain or swelling, pain in your back, excessive ...
Genetic variants. Channelopathies are a group of diseases caused by the dysfunction of ion channel subunits or their interacting proteins. These diseases can be inherited or acquired by other disorders, drugs, or toxins. Mutations in genes encoding ion channels, which impair channel function, are the most common cause of channelopathies. [ 1 ]
Periodic paralysis is a group of rare genetic diseases that lead to weakness or paralysis [ 1 ] from common triggers such as cold, heat, high carbohydrate meals, not eating, stress or excitement and physical activity of any kind. The underlying mechanism of these diseases are malfunctions in the ion channels in skeletal muscle cell membranes ...
Bartter syndrome(BS) is a rare inherited disease characterised by a defect in the thick ascending limbof the loop of Henle, which results in low potassium levels (hypokalemia),[2]increased blood pH (alkalosis), and normal to low blood pressure. There are two types of Bartter syndrome: neonatal and classic.
Specialty. Nephrology. Liddle's syndrome, also called Liddle syndrome, [1] is a genetic disorder inherited in an autosomal dominant manner that is characterized by early, and frequently severe, high blood pressure associated with low plasma renin activity, metabolic alkalosis, low blood potassium, and normal to low levels of aldosterone. [1]