Altered renal distal tubule structure and renal Na+ and Ca2+ handling in a mouse model for Gitelman's syndrome

J Loffing, V Vallon, D Loffing-Cueni… - Journal of the …, 2004 - journals.lww.com
Gitelman's syndrome, an autosomal recessive renal tubulopathy caused by loss-of-function
mutations in the thiazide-sensitive NaCl co-transporter (NCC) of the distal convoluted tubule
(DCT), is characterized by mild renal Na+ wasting, hypocalciuria, hypomagnesemia, and
hypokalemic alkalosis. For gaining further insights into the pathophysiology of Gitelman's
syndrome, the impact of NCC ablation on the morphology of the distal tubule, on the
distribution and abundance of ion transport proteins along its length, and on renal tubular …