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Bartter syndrome

A group of genetic disorders (a defect in the thick ascending limb of the loop of Henle), that impair the kidney's ability to reabsorb salt and cause imbalances in various electrolyte (potassium, calcium, magnesium, sodium, and chloride) and fluid concentrations in the body. It is caused by mutations in one of several different genes, and subdivided into type 1, 2, 3, 4A, 4B, and 5, based on the affected gene(s). For example, type 1 has a defect in Na-K-2Cl symporter, type 2 has a defect in thick ascending limb K⁺ channel, and type 3 has a defect in Cl⁻ channel. The affected people may lose excess amounts of ions through their urine, leading to hypokalemia, alkalosis, and normal to low blood pressure. Treatment is aimed at correcting the electrolyte imbalances. • Sodium, chloride, and potassium supplementation. • Nonsteroidal anti-inflammatories (NSAIDs) with stomach acid suppression therapies: Reduce glomerular filtration. • Angiotensin-converting enzyme (ACE) inhibitors: Reduce glomerular filtration rate. • Spironolactone (aldosterone antagonist, diuretic): Reduces potassium loss. • Renal ultrasound: Monitors for the development of nephrocalcinosis (common complication). Cf. Gitelman's syndrome, Liddle's syndrome