Clinical and Genetic Characteristics in Patients With Gitelman Syndrome
Junya Fujimura(Kobe University), Kandai Nozu(Kobe University), Tomohiko Yamamura(Kobe University), Shogo Minamikawa(Kobe University), Keita Nakanishi(University of the Ryukyus), Tomoko Horinouchi(Kobe University), China Nagano(Kobe University), Nana Sakakibara(Kobe University), Koichi Nakanishi(Kobe University), Yuko Shima(Wakayama Medical University), Kenichi Miyako(Beppu Medical Center), Yoshimi Nozu(Kobe University), Naoya Morisada(Kobe University), Hiroaki Nagase(Kobe University), Takeshi Ninchoji(Kobe University), Hiroshi Kaito(Kobe University), Kazumoto Iijima(Kobe University)
Cited by 74Open Access
Abstract
INTRODUCTION: Gitelman syndrome (GS) is a tubulopathy exhibited by salt loss. GS cases are most often diagnosed by chance blood test. Aside from that, some cases are also diagnosed from tetanic symptoms associated with hypokalemia and/or hypomagnesemia or short stature. As for complications, thyroid dysfunction and short stature are known, but the incidence rates for these complications have not yet been elucidated. In addition, no genotype-phenotype correlation has been identified in GS. METHODS: = 185). RESULTS: < 0.001). CONCLUSION: .
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