SLC26A3 Gene Analysis in Patients with Bartter and Gitelman Syndromes and the Clinical Characteristics of Patients with Unidentified Mutations
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概要
- 論文の詳細を見る
We analyzed the SLC26A3 gene in patients with a clinical diagnosis of Bartter and Gitelman syndromes in whom genetic diagnoses could not be determined. We also examined the genetic and clinical characteristics of patients for whom genetic proof could not be obtained. The present study included 10 patients. With regard to genetic characteristics, 1 patient harbored a heterozygous mutation in the SLC12A3 gene (c.2573T>A, p.L858H), which was also reported in a previous report. With regard to clinical characteristics, 3 patients had abnormalities that were identified incidentally during medical examinations and other illnesses and 1 patient had polyhydramnios. One case of nephrocalcinosis was also noted. Eight patients were of below average height. Although we analyzed the SLC26A3 gene in these 10 patients, none were found to have pathological mutations. Investigation of the outcomes of these cases showed that examination findings had normalized and medication was no longer necessary for 3 patients, whereas hypokalemia and metabolic alkalosis were observed in another patient only in the presence of acute disease. We concluded that few patients develop illnesses because of SLC26A3 mutations. Other disease-related genes may also be involved. Although hypokalemia and metabolic alkalosis are clinical characteristics of Bartter and Gitelman syndromes, many other conditions also present such symptoms, and thus, differential diagnosis is of paramount importance.
- 神戸大学の論文
- 2013-00-00
著者
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Iijima Kazumoto
Department Of Nephrology National Center For Child Health And Development
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Nozu Kandai
Department Of Pediatrics Kobe University Graduate School Of Medicine
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Morisada Naoya
Department Of Pediatrics School Of Medicine University Of Occupational And Environmental Health
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Kaito Hiroshi
Department Of Nephrology National Defense Medical College
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Ninchoji Takeshi
Department Of Pediatrics Kameda Medical Center
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Matsunoshita Natsuki
Department of Pediatrics, Kobe University Graduate School of Medicine
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Kaito Hiroshi
Department of Pediatrics, Kobe University Graduate School of Medicine
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Ishimori Shingo
Department of Pediatrics, Kobe University Graduate School of Medicine
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Otsubo Hiromi
Department of Pediatrics, Kobe University Graduate School of Medicine
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Hashimoto Fusako
Department of Pediatrics, Kobe University Graduate School of Medicine
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Morisada Naoya
Department of Pediatrics, Kobe University Graduate School of Medicine
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