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Clinical and diagnostic features of Bartter and Gitelman syndromes

Clinical Kidney Journal Dec 20, 2017

Walsh PR, et al. - Researchers here focused on clinical and diagnostic features of Bartter and Gitelman syndromes. As per observations, during childhood patients with Bartter and Gitelman syndromes had a satisfactory prognosis. However, they observed reduced estimated glomerular filtration rate (eGFR) and pathologic proteinuria in a large number of these patients, underscoring the necessity for monitoring glomerular as well as tubular function. In CLCNKB mutations, most severe electrolyte abnormalities were observed both at presentation and during follow-up. In children with hypokalaemic alkalosis, fractional excretion of chloride prior to supplementation proved a useful screening investigation to establish renal salt wasting.
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