Adult classic Bartter syndrome: a case report with 5-year follow-up and literature review
Author:
Affiliation:
1. Department of Endocrinology, Inner Mongolia Autonomous Region People’s Hospital, Hohhot 010000, China
Publisher
Japan Endocrine Society
Link
https://www.jstage.jst.go.jp/article/endocrj/71/5/71_EJ23-0631/_pdf
Reference26 articles.
1. 1 Bartter FC, Pronove P, Gill JR Jr, Maccardle RC (1962) Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome. Am J Med 33: 811–828.
2. 2 Simon DB, Karet FE, Hamdan JM, DiPietro A, Sanjad SA, et al. (1996) Bartter’s syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat Genet 13: 183–188.
3. 3 Simon DB, Karet FE, Rodriguez-Soriano J, Hamdan JH, DiPietro A, et al. (1996) Genetic heterogeneity of Bartter’s syndrome revealed by mutations in the K+ channel, ROMK. Nat Genet 14: 152–156.
4. 4 Simon DB, Bindra RS, Mansfield TA, Nelson-Williams C, Mendonca E, et al. (1997) Mutations in the chloride channel gene, CLCNKB, cause Bartter’s syndrome type III. Nat Genet 17: 171–178.
5. 5 Birkenhäger R, Otto E, Schürmann MJ, Vollmer M, Ruf EM, et al. (2001) Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat Genet 29: 310–314.
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1. Clinical, genetic characteristics and outcome of four Chinese patients with Bartter syndrome type 3: Further insight into a genotype-phenotype correlation;Molecular Genetics and Metabolism Reports;2024-09
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