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Bartter Syndrome Hanan Salman

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Bartter Syndrome Hanan Salman

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    6. Pathophysiology Defects in the sodium-chloride potassium-chloride cotransporter or potassium channel affect the transport of sodium, potassium, and chloride in the thick ascending limb of the loop of Henle. Leads to delivery of large volumes of urine with a high content of these ions to the distal segments of the renal tubule, where only some sodium is reabsorbed and potassium is secreted.

    14. Physical Findings Patient is thin and have reduced muscle mass and a triangularly shaped face, which is characterized by a prominent forehead, large eyes, protruding ears, and drooping mouth. Strabismus is frequently present. BP is normal. Bartter syndrome (type IV and V) develop sensorineural deafness, ( is detectable with audiometry).

    16. Differential diagnosis Cystic fibrosis Cyclical vomiting Congenital chloride diarrhea Diuretic abuse Gitelman syndrome Gullner syndrome Familial hypokalemic alkalosis with proximal tubulopathy Mineralocorticoid excess Pyloric stenosis

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