Bartter syndrome representing digenic-based salt-losing tubulopathies presumably accelerated by renal insufficiency
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Earth and Planetary Sciences,General Environmental Science
Link
https://link.springer.com/content/pdf/10.1007/s13730-020-00489-3.pdf
Reference19 articles.
1. Seyberth HW. An improved terminology and classification of Bartter-like syndromes. Nat Clin Pract Nephrol. 2008;4:560–7.
2. Seyberth HW, Schlingmann KP. Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects. Pediatr Nephrol. 2011;26:1789–802.
3. Kusuda T, Hosoya T, Mori T, Ihara K, Nishida H, Chiga M, et al. Acquired Gitelman syndrome in an anti-SSA antibody-positive patient with a SLC12A3 heterozygous mutation. Intern Med. 2016;55:3201–4.
4. Fava C, Montagnana M, Rosberg L, Burri P, Almgren P, Jönsson A, et al. Subjects heterozygous for genetic loss of function of the thiazide-sensitive cotransporter have reduced blood pressure. Hum Mol Genet. 2008;17:413–8.
5. Balavoine AS, Bataille P, Vanhille P, Azar R, Noël C, Asseman P, et al. Phenotype–genotype correlation and follow-up in adult patients with hypokalaemia of renal origin suggesting Gitelman syndrome. Eur J Endocrinol. 2011;165:665–73.
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