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Novel SLC12A1 mutations cause Bartter syndrome in two patients with different prognoses.

Clinica chimica acta; international journal of clinical chemistry - 1 Jun 2022

Yi Sheng, Li Mengting, Yang Qi, Zhang Xiaofei, Chen Fei, Qin Zailong, Yi Shang, Huang Limei, Wei Hao, Zhang Qinle, Luo Jingsi

Abstract excerpt

BACKGROUND: Bartter syndrome is an inherited renal tubular disorder that is characterized by hypokalemic, hypochloremic metabolic alkalosis in which the primary defect is a deficiency of transporters involved in sodium chloride reabsorption. Bartter syndrome type 1 is caused by SLC12A1 mutations. METHODS: The patients were from two unrelated non-consanguineous Chinese families. Both patients presented with...

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PMID: 35358470
DOI: 10.1016/j.cca.2022.03.025

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