title: Clinical and genetic analyses of Chinese patients with Gitelman syndrome.
abstract: To evaluate the genotype-phenotype relationship of Gitelman syndrome in Chinese patients. We selected patients with Gitelman syndrome presenting hypokalemia. Medical history, clinical manifestations, laboratory test results, and imaging data of these patients were collected for analysis. Target gene sequencing was performed to evaluate the genotype-phenotype relationship. Gitelman syndrome was diagnosed based on medical history, clinical manifestations, laboratory test results, and imaging data. The causative gene for Gitelman syndrome, SLC12A3, and the causative gene for the classic Bartter syndrome, CLCNKB, were screened for disease-causing mutations by direct sequencing. Clinical diagnoses of ten patients were consistent with Gitelman syndrome. Disease-causing mutations in the SLC12A3 gene were found in six patients. Among the variants, T60M in exon 1 was the hot spot in Chinese patients. Additionally, we found a small deletion of ACGG in exon 3 and L671P in exon 16; these have not been reported in previous studies. No disease-causing mutations were observed in the other four patients. Since mutations in the SLC12A3 and CLCNKB genes are not present in all patients with clinical manifestations of Gitelman syndrome, genetic screening after clinical diagnosis is essential.
authors.affiliation: Key Laboratory of Endocrine Diseases of Liaoning Province, Department of Endocrinology and Metabolism, Institute of Endocrinology, The First Affiliated Hospital, China Medical University, Shenyang, China.
authors.forename: M
authors.initials: M
authors.lastname: Miao
authors.affiliation: Key Laboratory of Endocrine Diseases of Liaoning Province, Department of Endocrinology and Metabolism, Institute of Endocrinology, The First Affiliated Hospital, China Medical University, Shenyang, China.
authors.forename: C Q
authors.initials: CQ
authors.lastname: Zhao
authors.affiliation: Key Laboratory of Endocrine Diseases of Liaoning Province, Department of Endocrinology and Metabolism, Institute of Endocrinology, The First Affiliated Hospital, China Medical University, Shenyang, China.
authors.forename: X L
authors.initials: XL
authors.lastname: Wang
authors.affiliation: Key Laboratory of Endocrine Diseases of Liaoning Province, Department of Endocrinology and Metabolism, Institute of Endocrinology, The First Affiliated Hospital, China Medical University, Shenyang, China.
authors.forename: Z Y
authors.initials: ZY
authors.lastname: Shan
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D018118:Chloride Channels / Q000235:genetics*; D005091:Exons; D005260:Female; D005838:Genotype; D053579:Gitelman Syndrome / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010641:Phenotype; D064486:Solute Carrier Family 12, Member 3 / Q000235:genetics
chemical_list: C412733:CLCNKB protein, human; D018118:Chloride Channels; C578874:SLC12A3 protein, human; D064486:Solute Carrier Family 12, Member 3