Volume 70, Issue 4, Pages (August 2006)

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Volume 70, Issue 4, Pages 813-817 (August 2006) From bench to bedside: Diagnosis of Gitelman's syndrome – defect of sodium-chloride cotransporter in renal tissue H.R. Jang, J.W. Lee, Y.K. Oh, K.Y. Na, K.W. Joo, U.S. Jeon, H.I. Cheong, J. Kim, J.S. Han Kidney International Volume 70, Issue 4, Pages 813-817 (August 2006) DOI: 10.1038/sj.ki.5001694 Copyright © 2006 International Society of Nephrology Terms and Conditions

Figure 1 Gene analysis result of Patient 1. The patient had homozygous mutation at 967 TCC codon in exon 25, which converts serine to phenylalanine (S967F). Kidney International 2006 70, 813-817DOI: (10.1038/sj.ki.5001694) Copyright © 2006 International Society of Nephrology Terms and Conditions

Figure 2 Gene analysis result of Patient 2. The patient had compound heterozygous mutations at 839 GAT codon in exon 21 and 979 ATA codon in exon 26, which convert aspartate to asparagine and isoleucine to threonine, respectively (D839N/I979T). Kidney International 2006 70, 813-817DOI: (10.1038/sj.ki.5001694) Copyright © 2006 International Society of Nephrology Terms and Conditions

Figure 3 Immunohistochemistry of thiazide-sensitive NCC and NKCC2 in renal biopsy tissues from two patients with (c–f) Gitelman's syndrome and the (a and b) control. Whereas the NCC immunohistochemistry in the control showed a distinct labeling along the apical membrane of the (a) DCT, the results of the renal tissues from the patients with Gitelman's syndrome were devoid of (c and e, see the text for details.) intact NCC immunostaining. In contrast, immunostaining for NKCC2 in the cortical TAL was all intact in both the control and patients. DCT, distal convoluted tubule; TAL, thick ascending limb. Kidney International 2006 70, 813-817DOI: (10.1038/sj.ki.5001694) Copyright © 2006 International Society of Nephrology Terms and Conditions

Figure 4 Simplified pathophysiology of Gitelman's syndrome. Defect of NCC expression caused by SLC12A3 gene-inactivating mutation results in hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria. Kidney International 2006 70, 813-817DOI: (10.1038/sj.ki.5001694) Copyright © 2006 International Society of Nephrology Terms and Conditions