One case report on CLCNKB gene deletion mutation in Bartter syndrome

doi:10.7504/ek2015110617

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One case report on CLCNKB gene deletion mutation in Bartter syndrome

Online:2015-11-06 Published:2015-11-25

Bartter综合征CLCNKB基因缺失突变1例报告

青岛市妇女儿童医院，山东青岛 266000

Abstract

Key words: Bartter syndrome, Gitelman Syndrome, CLCNKB gene, gene deletion mutation

关键词: Bartter综合征, Gitelman综合征, CLCNKB基因, 缺失突变

HU Si-cui，SUN Qing，WANG Yi-bing，SUN Li-li，CUI Guang-mei. One case report on CLCNKB gene deletion mutation in Bartter syndrome[J]. CJPP, DOI: 10.7504/ek2015110617.

胡思翠，孙清，王一冰，孙莉莉，崔广梅. Bartter综合征CLCNKB基因缺失突变1例报告[J]. 中国实用儿科杂志, DOI: 10.7504/ek2015110617.

[1]	LI Zhi-chuan*，BAO Yan-min，CHI Qiao-mei，et al. Pseudo-Bartter syndrome in Chinese infants with cystic fibrosis and literature review：A report of 2 cases [J]. CJPP, 2020, 35(2): 147-151.
[2]	KANG Yu-lin，FENG Dan，ZHENG Wei-hua，et al. Clinical analysis of 38 children with hypokalemic renal tubular diseases [J]. CJPP, 2018, 33(4): 286-290.
[3]	ZHANG Hai-ting，LUO Gang，JIANG Hong. Bartter syndrome combined with glomerulosclerosis and renal failure in children：A report of 1 case [J]. CJPP, 2018, 33(10): 815-816.

One case report on CLCNKB gene deletion mutation in Bartter syndrome

Bartter综合征CLCNKB基因缺失突变1例报告

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