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Article

A novel mutation of KCNJ1 identified in an affected child with nephrolithiasis.

BMC nephrology - 27 Jun 2022

Yang Saisai, Yao Guanghui, Chen Xin, Shi Huirong, Lou Chihhong, Ren Shumin, Jiao Zhihui, Wang Cong, Kong Xiangdong, Wu Qinghua

Abstract excerpt

Nephrolithiasis is not common in children, but the incidence is gradually increased in these years. Urinary tract malformations, urinary infection, dietary habits, geographic region and genetic factor are involved in the etiology of nephrolithiasis. For the affected child, it is especially important to elucidate the etiology, which may provide an accurate diagnosis, a personalized therapy and effective follow-up...

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Identifiers

PMID: 35761198
DOI: 10.1186/s12882-022-02783-x
PMCID: PMC9235087

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