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Page 1
Spectrum of mutations in Gitelman syndrome.
Vargas-Poussou R, Dahan K, Kahila D, Venisse A, Riveira-Munoz E, Debaix H, Grisart B, Bridoux F, Unwin R, Moulin B, Haymann JP, Vantyghem MC, Rigothier C, Dussol B, Godin M, Nivet H, Dubourg L, Tack I, Gimenez-Roqueplo AP, Houillier P, Blanchard A, Devuyst O, Jeunemaitre X. Vargas-Poussou R, et al. J Am Soc Nephrol. 2011 Apr;22(4):693-703. doi: 10.1681/ASN.2010090907. Epub 2011 Mar 17. J Am Soc Nephrol. 2011. PMID: 21415153 Free PMC article.
Gitelman's syndrome (GS) is a rare, autosomal recessive, salt-losing tubulopathy caused by mutations in the SLC12A3 gene, which encodes the thiazide-sensitive NaCl cotransporter (NCC). ...In 315 patients (70%), we ide …
Gitelman's syndrome (GS) is a rare, autosomal recessive, salt-losing tubulopathy caused by mutations in the SLC12A3 …
Gitelman syndrome.
Knoers NV, Levtchenko EN. Knoers NV, et al. Orphanet J Rare Dis. 2008 Jul 30;3:22. doi: 10.1186/1750-1172-3-22. Orphanet J Rare Dis. 2008. PMID: 18667063 Free PMC article. Review.
Mutations in the solute carrier family12, member 3 gene, SLC12A3, which encodes the thiazide-sensitive NaCl cotransporter (NCC), are found in the majority of GS patients. At present, more than 140 different NCC mutations thr …
Mutations in the solute carrier family12, member 3 gene, SLC12A3, which encodes the thiazide-sensitive Na …
Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome.
Glaudemans B, Yntema HG, San-Cristobal P, Schoots J, Pfundt R, Kamsteeg EJ, Bindels RJ, Knoers NV, Hoenderop JG, Hoefsloot LH. Glaudemans B, et al. Eur J Hum Genet. 2012 Mar;20(3):263-70. doi: 10.1038/ejhg.2011.189. Epub 2011 Oct 19. Eur J Hum Genet. 2012. PMID: 22009145 Free PMC article.
The GS phenotype is caused by mutations in the solute carrier family 12, member 3 (SLC12A3) gene that encodes the thiazide-sensitive NaCl cotransporter (NCC). We analyzed DNA samples of 163 pat …
The GS phenotype is caused by mutations in the solute carrier family 12, member 3 (SLC12A3) …
The genetic spectrum of Gitelman(-like) syndromes.
Schlingmann KP, de Baaij JHF. Schlingmann KP, et al. Curr Opin Nephrol Hypertens. 2022 Sep 1;31(5):508-515. doi: 10.1097/MNH.0000000000000818. Epub 2022 Jul 11. Curr Opin Nephrol Hypertens. 2022. PMID: 35894287 Free PMC article. Review.
The majority of patients are explained by mutations and deletions in the SLC12A3 gene, encoding the Na+-Cl--co-transporter (NCC). ...SUMMARY: Altogether, these findings extend the genetic spectrum of Gitelman-like electrolyte alterations. Geneti …
The majority of patients are explained by mutations and deletions in the SLC12A3 gene, encoding the Na+-Cl--co-t …
Linkage of Gitelman syndrome to the thiazide-sensitive sodium-chloride cotransporter gene with identification of mutations in Dutch families.
Lemmink HH, van den Heuvel LP, van Dijk HA, Merkx GF, Smilde TJ, Taschner PE, Monnens LA, Hebert SC, Knoers NV. Lemmink HH, et al. Pediatr Nephrol. 1996 Aug;10(4):403-7. doi: 10.1007/s004670050129. Pediatr Nephrol. 1996. PMID: 8865231
One crucial recombination event places the Gitelman syndrome locus distal to D16S419 at 16q12-13. Subsequently we have tested our group of Gitelman patients for mutations in the human TSC gene. Two mutations were identified in three Gi …
One crucial recombination event places the Gitelman syndrome locus distal to D16S419 at 16q12-13. Subsequently we have tested our gro …
Novel mutations in thiazide-sensitive Na-Cl cotransporter gene of patients with Gitelman's syndrome.
Monkawa T, Kurihara I, Kobayashi K, Hayashi M, Saruta T. Monkawa T, et al. J Am Soc Nephrol. 2000 Jan;11(1):65-70. doi: 10.1681/ASN.V11165. J Am Soc Nephrol. 2000. PMID: 10616841 Clinical Trial.
Gitelman's syndrome (GS) is an autosomal recessive disorder characterized by metabolic alkalosis, hypokalemia, hypomagnesemia, and hypocalciuria that has recently been reported to be linked to thiazide-sensitive Na-Cl cotransporter (TSC) gene …
Gitelman's syndrome (GS) is an autosomal recessive disorder characterized by metabolic alkalosis, hypokalemia, hypomagnesemia, …
A novel homozygous SLC12A3 mutation causing Gitelman syndrome with co-existent autoimmune thyroiditis: a case report and review of the literature.
Koca O, Alay MT, Murt A, Kalayci Yigin A, Seven M, Bavunoglu I. Koca O, et al. CEN Case Rep. 2024 Oct;13(5):330-338. doi: 10.1007/s13730-023-00845-z. Epub 2024 Feb 3. CEN Case Rep. 2024. PMID: 38308744 Free PMC article. Review.
However, as reported in the literature, diagnosis in some patients is prompted by an incidental finding of hypokalemia. GS develops due to mutations in the SLC12A3 gene, which encodes the thiazide-sensitive Na-Cl cotransporter. Man …
However, as reported in the literature, diagnosis in some patients is prompted by an incidental finding of hypokalemia. GS develops d …
Renal calcium and magnesium handling in Gitelman syndrome.
Reyes JV, Medina PMB. Reyes JV, et al. Am J Transl Res. 2022 Jan 15;14(1):1-19. eCollection 2022. Am J Transl Res. 2022. PMID: 35173827 Free PMC article. Review.
Gitelman syndrome (GS) is an autosomal recessive salt-losing tubulopathy caused by biallelic inactivating mutations in the SLC12A3 gene. This gene encodes the thiazide-sensitive sodium-chloride cotransporter (N …
Gitelman syndrome (GS) is an autosomal recessive salt-losing tubulopathy caused by biallelic inactivating mutations in the SLC …
Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype.
Jeck N, Konrad M, Peters M, Weber S, Bonzel KE, Seyberth HW. Jeck N, et al. Pediatr Res. 2000 Dec;48(6):754-8. doi: 10.1203/00006450-200012000-00009. Pediatr Res. 2000. PMID: 11102542
In clinical practice, it is distinguished from other hypokalemic tubulopathies by the presence of both hypomagnesemia and normocalcemic hypocalciuria. To date, only mutations in a single gene encoding the thiazide-sensitive NaCl cotransporter …
In clinical practice, it is distinguished from other hypokalemic tubulopathies by the presence of both hypomagnesemia and normocalcemic hypo …
WNK signalling pathways in blood pressure regulation.
Murthy M, Kurz T, O'Shaughnessy KM. Murthy M, et al. Cell Mol Life Sci. 2017 Apr;74(7):1261-1280. doi: 10.1007/s00018-016-2402-z. Epub 2016 Nov 4. Cell Mol Life Sci. 2017. PMID: 27815594 Free PMC article. Review.
The clinical signs of FHHt are treated by low doses of thiazide diuretic, and it mirrors Gitelman syndrome which features the inverse phenotype of hypotension, hypokalemic metabolic alkalosis, and hypocalciuria. Gitelman syndrome is caused by loss of function …
The clinical signs of FHHt are treated by low doses of thiazide diuretic, and it mirrors Gitelman syndrome which features the …
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