Identification of compound mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome exhibiting Bartter syndrome-liked phenotypes.

Dong, Bingzi; Chen, Ying; Liu, Xinying; Wang, Yangang; Wang, Fang; Zhao, Yuhang; Sun, Xiaofang; Zhao, Wenjuan

Dong, Bingzi; Chen, Ying; Liu, Xinying; Wang, Yangang; Wang, Fang; Zhao, Yuhang; Sun, Xiaofang; Zhao, Wenjuan.

Afiliación

Dong B; Department of Endocrinology and Metabolism, the Affiliated Hospital of Qingdao University, 16 Jiangsu Road, Qingdao, 266003, China.
Chen Y; Department of Endocrinology and Metabolism, the Affiliated Hospital of Qingdao University, 16 Jiangsu Road, Qingdao, 266003, China.
Liu X; Department of Endocrinology, Pingdu People's Hospital, 112 Yangzhou Road, Pingdu, 266700, China.
Wang Y; Department of Endocrinology and Metabolism, the Affiliated Hospital of Qingdao University, 16 Jiangsu Road, Qingdao, 266003, China.
Wang F; Department of Endocrinology and Metabolism, the Affiliated Hospital of Qingdao University, 16 Jiangsu Road, Qingdao, 266003, China.
Zhao Y; Department of Endocrinology and Metabolism, the Affiliated Hospital of Qingdao University, 16 Jiangsu Road, Qingdao, 266003, China.
Sun X; Department of Endocrinology and Metabolism, the Affiliated Hospital of Qingdao University, 16 Jiangsu Road, Qingdao, 266003, China.
Zhao W; Department of Endocrinology and Metabolism, the Affiliated Hospital of Qingdao University, 16 Jiangsu Road, Qingdao, 266003, China. 18661807103@163.com.

BMC Nephrol ; 21(1): 328, 2020 08 05.

Article en En | MEDLINE | ID: mdl-32758178

Asunto(s)

Síndrome de Gitelman/genética; Adulto; Anciano; Alcalosis/genética; Alcalosis/metabolismo; Síndrome de Bartter/metabolismo; China; Femenino; Genotipo; Síndrome de Gitelman/metabolismo; Humanos; Hipercalciuria/genética; Hipercalciuria/metabolismo; Hipopotasemia/genética; Hipopotasemia/metabolismo; Magnesio/sangre; Masculino; Persona de Mediana Edad; Mutación; Linaje; Fenotipo; Eliminación Renal; Miembro 3 de la Familia de Transportadores de Soluto 12/genética; Desequilibrio Hidroelectrolítico/genética; Desequilibrio Hidroelectrolítico/metabolismo

Palabras clave

Gitelman syndrome; Hypercalciuria; Hypokalemia; SLC12A3

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Síndrome de Gitelman Tipo de estudio: Diagnostic_studies Límite: Adult / Aged / Female / Humans / Male / Middle aged País/Región como asunto: Asia Idioma: En Revista: BMC Nephrol Asunto de la revista: NEFROLOGIA Año: 2020 Tipo del documento: Article País de afiliación: China

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