TWO BROTHERS FROM MACEDONIA WITH GITELMAN SYNDROME
Janchevska A, Tasic V, Jordanova O, Gucev Z, Jenkins L, Jovanovska N, Plaseska – Karanfilska D, Ashton E, Bockenhauer D
*Corresponding Author: Ass. Prof. Dr. Aleksandra Janchevska, University Children’s hospital, Skopje, Rep. of N. Macedonia; Email: dr.sasha1969@yahoo.com
page: 69

REFERENCES

1. Graziani G, Fedeli C, Moroni L, Cosmai L, Badalamenti S, Ponticelli C. Gitelman syndrome: pathophysiological and clinical aspects. QJM. 2010; 103(10):741-748. 2. Gitelman HJ, Graham JB, Welt LG. A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Phys. 1966; 79: 221-235. 3. Simon DB, Nelson-Williams C, Bia MJ, Ellison D, Karet FE, Molina AM et al. Gitelman’s variant of Bartter’s syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Nature Genet. 1996; 12: 24-30. 4. Knoers NVA, Levtchenko EN. Gitelman syndrome. Orphanet J Rare Dis. 2008 30;3: 22. 5. Blanchard A, Vallet M, Dubourg L, Hureaux M, Allard J, Haymann JP et al. Resistance to Insulin in Patients with Gitelman Syndrome and a Subtle Intermediate Phenotype in Heterozygous Carriers: A Cross-Sectional Study. J Am Soc Nephrol. 2019 Aug;30(8):1534-1545. 6. Tammaro F, Bettinelli A, Cattarelli D, Cavazza A, Colombo C, Syrén ML et al. Early appearance of hypokalemia in Gitelman syndrome. Pediatr Nephrol. 2010; 25:2179–2182. 7. Zelikovic I: Molecular pathophysiology of tubular transport disorders. Pediatr Nephrol.2001; 16:919– 935. 8. Al Shibli A, Narchi H. Bartter and Gitelman syndromes: Spectrum of clinical manifestations caused by different mutations. World J Methodol. 2015; 26;5(2):55-61. 9. Mastroianni N, Bettinelli A, Bianchetti M, Colussi G, De Fusco M, Sereni F. et al. Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome. Am J Hum Genet.1996; 59: 1019-1026. 10. Viering DHHM, Hureaux M, Neveling K, Latta F, Kwint M , Blanchard A et al. Long-Read Sequencing Identifies Novel Pathogenic Intronic Variants in Gitelman Syndrome. J Am Soc Nephrol. 2023 1;34(2):333-345. 11. Kleta R, Bockenhauer D. Salt-Losing Tubulopathies in Children: What’s New, What’s Controversial? J Am Soc Nephrol. 2018;29(3):727-739. 12. Ashton E, Legrand A, Benoit V, Roncelin I, Venisse A, Zennaro MC et al. Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies. Clin Invest. 2018; 93: 961-967. 13. Hureaux M, Ashton E, Dahan K, Houillier P, Blanchard A, Cormier C et al. High-thro-ughput sequencing contributes to the diagnosis of tubulopathies and familial hypercal-cmia hypocalciuria in adults. Kidney Int 2019;96(6):1408-1416. 14. Leung JC. Inherited renal diseases. Curr Pediatr Rev. 2014;10(2):95-100. 15. Gitelman syndrome. Genetics Home Reference. February 2011. 16. Walsh PR, Tse Y, Ashton E, Iancu D, Jenkins L, Bienias M, et al. Clinical and diagnostic features of Bartter and Gitelman syndromes. Clin Kidney J. 2018;11(3):302-309. 17. Blanchard A, Bockenhauer D, Bolignano D, Calò LA, Cosyns E, Devuyst O et al. Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney Int. 2017; 91(1):24-33. 18. Cruz DN, Shaer AJ, Bia MJ, Lifton RP, Simon DB, for Yale Gitelman’s and Bartter’s Syndrome Collaborative Study Group. Gitelman’s syndrome revisited: an evaluation of symptoms and health-related quality of life. Kidney Int. 2001; 59:710–717. 19. Pachulski RT, Lopez F, Sharaf R. Gitelman’s not-sobenign syndrome. N Engl J Med. 2005; 353:850–851. 20. Peters M, Jeck N, Reinalter S, Leonhardt A, Tönshoff B, Klaus G, et al. Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies. Am J Med. 2002; 112:183–190. 21. Emmett M, Ellison D. Bartter and Gitelman syndromes. In: Sterns RH, Forman JP. UpToDate. Waltham, MA: UpToDate; Last updated February 7, 2018; Accessed 2/22/2018. 22. Ungaro CM, Odstrcil-Bobillo MS, Russo PM. Gitelman syndrome. Medicina (B Aires). 2020;80(1):87- 90. 23. Matsunoshita N, Nozu K, Yoshikane M, Kawaguchi A, Fujita N, Morisada N et al. Congenital chloride diarrhea needs to be distinguished from Bartter and Gitelman syndrome. J Hum Genet. 2018 Jul;63(8):887-892. 24. Vargas-Poussou R, Dahan K, Kahila D, Venisse A, Riveira-Munoz E, Debaix H et al. Spectrum of mutations in Gitelman syndrome. J Am Soc Nephrol. 2011;22(4):693-703. 25. Glaudemans B, Yntema HG, San-Cristobal P, Schoots J, Pfundt R, Kamsteeg, EJ et al. Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome. Europ. J. Hum. Genet. 2012; 20: 263-270. 26. Rosado Rubio C, Fraile Gómez P, Gómez Muñoz MA, Garcia-Cosmes P, Lerma Márquez JL. C1q nephropathy in a patient with Gitelman syndrome. NDT Plus. 2011;4(6):392-393. 27. Rego T, Fonseca F, Cerqueira R, Agapito A. Gitelman syndrome and primary hyperparathyroidism: a rare association. BMJ Case Rep. 2018; 5; pii: bcr-2017- 223663. 28. Huang K, Dai YL, Zhang JW, Zhang L, Wu W, Dong GP, et al. Gitelman syndrome combined with growth hormone deficiency: Three cases report. 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