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山东大学学报 (医学版) ›› 2023, Vol. 61 ›› Issue (10): 121-124.doi: 10.6040/j.issn.1671-7554.0.2023.0760

• • 上一篇    

1例CLCNKB基因突变导致成人Bartter综合征病例报道

刘淋1,2,3,杨雅溪1,2,3,王江腾1,2,3,刘佳1,2,3,周新丽1,2,3,管庆波1,2,3,吕智美4,张栩1,2,3   

  1. 1.内分泌糖脂代谢与脑老化教育部重点实验室;山东第一医科大学附属省立医院内分泌代谢病科, 山东 济南 250021;2.山东省糖尿病与代谢疾病临床医学研究中心, 山东 济南 250021;3.山东省内分泌与代谢病研究所, 山东 济南 250021;4.山东第一医科大学附属省立医院肾内科, 山东 济南 250021
  • 发布日期:2023-11-08
  • 通讯作者: 张栩. E-mail:zhangxu@medmail.com.cn

  • Published:2023-11-08

关键词: Bartter综合征, CLCNKB基因, 突变, 低钾血症

中图分类号: 

  • R58
[1] Bartter FC, Pronove P, Gill JR Jr, et al. Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome[J]. Am J Med, 1962, 33: 811-828. doi: 10.1016/0002-9343(62)90214-0.
[2] Mrad FCC, Soares SBM, de Menezes Silva LAW, et al. Bartter’s syndrome: clinical findings, genetic causes and therapeutic approach[J]. World J Pediatr, 2021, 17(1):31-39.
[3] Konrad M, Nijenhuis T, Ariceta G, et al. Diagnosis and management of Bartter syndrome: executive summary of the consensus and recommendations from the european rare kidney disease reference network working group for tubular disorders[J]. Kidney Int, 2021, 99(2):324-335.
[4] García-Castaño A, Gómez-Conde S, Gondra L, et al. Genotypic variability in patients with clinical diagnosis of bartter syndrome type 3[J]. Sci Rep, 2023, 13(1):12587.
[5] Zhu B, Jiang H, Cao M, et al. A novel CLCNKB mutation in a Chinese girl with classic bartter syndrome: a case report[J]. BMC Med Genet, 2019, 20(1): 137.
[6] ZHOU Jiaran, WANG Chunli, BAO Huaying. Progress of research on the role of CLCNKB gene in classical bartter syndrome[J]. Chinese Journal of Medical Genetics, 2020, 37(5): 573-577.
[7] Zhou L, Chen X, Xiong J, et al. A mosaic mutation in the CLCNKB gene causing bartter syndrome: a case report[J]. Front Pediatr, 2023, 11:1034923. doi: 10.3389/fped.2023.1034923.
[8] Nuñez-Gonzalez L, Carrera N, Garcia-Gonzalez MA. Molecular basis, diagnostic challenges and therapeutic approaches of bartter and gitelman syndromes: a primer for clinicians[J]. Int J Mol Sci, 2021, 22(21): 11414.
[9] Han Y, Zhao X, Wang S, et al. Eleven novel SLC12A1 variants and an exonic mutation cause exon skipping in bartter syndrome type I[J]. Endocrine, 2019, 64(3): 708-718.
[10] Palazzo V, Raglianti V, Landini S, et al. Clinical and genetic characterization of patients with bartter and gitelman syndrome[J]. Int J Mol Sci, 2022, 23(10): 5641.
[11] Wu X, Yang G, Chen S, et al. Bartter syndrome with long-term follow-up: a case report[J]. J Int Med Res, 2020, 48(8): 300060520947876.
[12] Koulouridis E, Koulouridis I. Molecular pathophysiology of bartters and gitelmans syndromes[J]. World J Pediatr, 2015, 11(2): 113-125.
[13] Hureaux M, Ashton E, Dahan K, et al. High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults[J]. Kidney Int, 2019, 96(6): 1408-1416.
[14] Francini F, Gobbi L, Ravarotto V, et al. The dietary approach to the treatment of the rare genetic tubulopathies gitelmans and bartters syndromes[J]. Nutrients, 2021, 13(9): 2960.
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