17 June 2024
: Case report
Bartter Syndrome Presenting as Arginine-Vasopressin Resistance: A Report of 2 Cases
Challenging differential diagnosis, Congenital defects / diseases
Maria Sousa


DOI: 10.12659/AJCR.942872
Am J Case Rep 2024; 25:e942872
Figure 4. Next-generation sequencing (NGS) results in case 1 (A) showing a homozygotic pathogenic variant in SLC12A1, c.1432G>A, p.(Gly478Arg), and Sanger sequencing results of his parents (B) showing the same variant in heterozygosity, in both parents; and NGS results in case 2 (C) showing compound heterozygosity for pathogenic variants c.139G>A, p.(Gly47Arg) (right panel) and c.389C>T, p.(Ser130Leu) (left panel) in KCNJ1. Footnote: NGS with 20× coverage for point mutations and small deletions/ insertions.