Genes (Basel) 2021 03 5;12(3). Epub 2021 Mar 5.
Department of Nephrology, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Long-quan Branch, Longquan 323716, China.
Gitelman syndrome (GS) and Bartter syndrome (BS) type III are both rare, recessively inherited salt-losing tubulopathies caused by and mutations, respectively. We described a 48-year-old male patient with fatigue, carpopedal spasm, arthralgia, hypokalemic alkalosis, mild renal dysfunction, hypomagnesemia, hypocalciuria, hyperuricemia, normotension, hyperreninemia and chondrocalcinosis in knees and Achilles tendons. His parents are first cousin. Read More