Article
Bartter syndrome representing digenic-based salt-losing tubulopathies presumably accelerated by renal insufficiency.
CEN case reports - 1 Nov 2020
Umene Ryusuke, Kitamura Mineaki, Arai Hideyuki, Matsumura Kazuki, Ishimaru Yuka, Maeda Kanenori, Uramatsu Tadashi, Obata Yoko, Mori Takayasu, Sohara Eisei, Uchida Shinichi, Nishino Tomoya
Abstract excerpt
Bartter syndrome and Gitelman syndrome (GS) are autosomal recessive disorders usually caused by homozygous or compound heterozygous mutations in causative genes. In some patients, these two syndromes cannot be discriminated based on clinical features or mutation type; thus, a single disease concept, salt-losing tubulopathies (SLTs), has been used instead. Despite the existence of several SLT causative genes,...
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