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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. It is the most frequent hereditary salt-losing tubulopathy. Gitelman syndrome is caused by disease-causing variants on both alleles of the ...
Nephrotic syndrome is a collection of symptoms due to kidney damage. This includes protein in the urine, low blood albumin levels, high blood lipids, and significant swelling. Other symptoms may include weight gain, feeling tired, and foamy urine. Complications may include blood clots, infections, and high blood pressure.
Hypotension, weakness, paresthesias, tetany, fatigue, and salt craving, Presentation generally much later in life than in Bartter's and hypocalciuria is typical: Plasma: ↑renin, ↓K, ↓Mg, ↑CO 2; Urine: ↓calcium:creatinine excretion ratio (useful in distinguishing Gitelman's and Bartter's)(Note: biochemically can mimic thiazide use)
In severe or acute hypoosmolar hyponatremia, swelling of brain cells causes various neurological abnormalities, which in severe or acute cases can result in convulsions, coma, and death. The symptoms of chronic syndrome of inappropriate antidiuresis are more vague, and may include cognitive impairment, gait abnormalities, or osteoporosis. [2]
1.2 million (2015) [6] Chronic kidney disease ( CKD) is a type of long-term kidney disease, in which either there is a gradual loss of kidney function occurs over a period of months to years, or abnormal kidney structure (with normal function). [2] [5] Initially generally no symptoms are seen, but later symptoms may include leg swelling ...
Fanconi syndrome or Fanconi's syndrome ( English: / fɑːnˈkoʊni /, / fæn -/) is a syndrome of inadequate reabsorption in the proximal renal tubules [1] of the kidney. The syndrome can be caused by various underlying congenital or acquired diseases, by toxicity (for example, from toxic heavy metals ), or by adverse drug reactions. [2]
Congenital nephrotic syndrome is a rare kidney disease which manifests in infants during the first 3 months of life, and is characterized by high levels of protein in the urine ( proteinuria ), low levels of protein in the blood, and swelling. [1] This disease is primarily caused by genetic mutations which result in damage to components of the ...
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]