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Title :Clinical and Genetic Characteristics in Patients With Gitelman Syndrome
Authors :Fujimura, Junya
Nozu, Kandai
Yamamura, Tomohiko
Minamikawa, Shogo
Nakanishi, Keita
Horinouchi, Tomoko
Nagano, China
Sakakibara, Nana
Nakanishi, Koichi
Shima, Yuko
Miyako, Kenichi
Nozu, Yoshimi
Morisada, Naoya
Nagase, Hiroaki
Ninchoji, Takeshi
Kaito, Hiroshi
Iijima, Kazumoto
Issue Date :Jan-2019
Abstract :Introduction:Gitelman syndrome (GS) is a tubulopathy exhibited by salt loss. GS cases are most oftendiagnosed by chance blood test. Aside from that, some cases are also diagnosed from tetanic symptomsassociated with hypokalemia and/or hypomagnesemia or short stature. As for complications, thyroiddysfunction and short stature are known, but the incidence rates for these complications have not yet beenelucidated. In addition, no genotype–phenotype correlation has been identified in GS. Methods:We examined the clinical characteristics and genotype–phenotype correlation in geneticallyproven GS cases with homozygous or compound heterozygous variants inSLC12A3(n¼185). Results:In our cohort, diagnostic opportunities were by chance blood tests (54.7%), tetany (32.6%), orshort stature (7.2%). Regarding complications, 16.3% had short stature, 13.7% had experienced febrileconvulsion, 4.3% had thyroid dysfunction, and 2.5% were diagnosed with epilepsy. In one case, QT pro-longation was detected. Among 29 cases with short stature, 10 were diagnosed with growth hormone (GH)deficiency and GH replacement therapy started. Interestingly, there was a strong correlation in serummagnesium levels between cases with p.Arg642Cys and/or p.Leu858His and cases without these variants,which are mutational hotspots in the Japanese population (1.76 mg/dl vs. 1.43 mg/dl,P<0.001). Conclusion:This study has revealed, for thefirst time, clinical characteristics in genetically proven GScases in the Japanese population, including prevalence of complications. Patients with hypokalemiadetected by chance blood test should have gene tests performed. Patients with GS need attention fordeveloping extrarenal complications, such as short stature, febrile convulsion, thyroid dysfunction, epi-lepsy, or QT prolongation. It was also revealed for thefirst time that hypomagnesemia was not severe insome variants in SLC12A3.
URL :https://doi.org/10.1016/j.ekir.2018.09.015
Type Local :雑誌掲載論文
ISSN :2468-0249
Publisher :Elsevier
URI :http://hdl.handle.net/20.500.12000/45950
Citation :Kidney international reports Vol.4 no.1 p.119 -125
Appears in Collections:Peer-reviewed Journal Articles (Faculty of Medicine)

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