Ali ANARAT, Bahriye ATMIŞ, Engin MELEK, Aysun KARABAY BAYAZIT, Zahide ORHAN OK

Erken Başlangıçlı Gitelman Sendromu Olgusu

Gitelman sendromu (GS), hipokalemik metabolik alkaloz ile birlikte hipomagnezemi ve hipokalsiüri ile seyreden ve erişkinde en sık saptanan herediter tübülopatidir. Gitelman sendromu distal kıvrımlı tübülde tiazid duyarlı Na-Cl kotransport kanalını kodlayan SLC12A3 geninde mutasyon sonucu ortaya çıkar. Genellikle erişkin yaşta tespit edilmesine karşın çoğu altı yaşından sonra ortaya çıkar. Gitelman sendromunun klinik belirti vererek 6 yaşından önce tanı alması nadirdir. Biz beş yaşında tetani ile başvuran ve Gitelman Sendromu tanısı koyduğumuz bir hastamızı literatürü gözden geçirerek sunduk.

Anahtar Kelimeler:

Çocukluk çağı, Gitelman sendromu

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1. Gitelman HJ, Graham JB, Welt LG. A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Phys 1966;79:221–35.
2. Knoers NV, Levtchenko EN. Gitelman syndrome. Orphanet J Rare Dis 2008 30;3:22.
3. Devuyst O, Belge H, Konrad M, Jeunemaitre X, Zennaro MC. Renal tubular disorders of electrolyte regulation in children. In: Avner ED, Harmon VE, Niaudet P, Yoshikawa N, Emma F, Goldstein SL, (eds). 7th ed. Pediatric Nephrology. Berlin, Heidelberg: Springer-Verlag, 2016:1215-21.
4. 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 thiazidesensitive Na-Cl cotransporter. Nat Gen 1996;12:24–30.
5. Vargas-Poussou R, Dahan K, Kahila D, Venisse A, Riveira-Munoz E, et al. Spectrum of mutations in Gitelman Syndrome. J Am Soc Nephrol 2011;22:693–703.
6. Takeuchi Y, Mishima E, Shima H, Akiyama Y, Suzuki C, Suzuki T, et al. Exonic mutations in the SLC12A3 gene cause exon skipping and premature termination in Gitelman Syndrome. J Am Soc Nephrol 2015;26:271–9.
7. 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: 2179-82.
8. Nandi M, Pandey G, Sarkar S. Gitelman syndrome in an infant. Indian J Nephrol 2015; 25:316.
9. Sinha A, Lněnička P, Basu B, Gulati A, Hari P, Bagga A. Gitelman syndrome: Novel mutation and long-term follow-up. Clin Exp Nephrol 2012;16:306-9.
10. Dai LJ, Ritchie G, Kerstan D, Kang HS, Cole DE, Quamme GA. Magnesium transport in the renal distal convoluted tubule. Physiol Rev 2001;81:51–84.
11. Punzi L, Calò L, Schiavon F, Pianon M, Rosada M, Todesco S. Chondrocalcinosis is a feature of Gitelman’s variant of Bartter’s syndrome. A new look at the hypomagnesemia associated with calcium pyrophosphate dihydrate crystal deposition disease. Rev Rhum Engl Ed 1998;65:571–4.
12. Bourcier T, Blain P, Massin P, Gr€unfeld JP, Gaudric A. Sclerochoroidal calcification associated with Gitelman syndrome. Am J Ophthalmol 1999;128:767–78.
13. Bettinelli A, Tosetto C, Colussi G, Tommasini G, Edefonti A, Bianchetti MG. Electrocardiogram with prolonged QT interval in Gitelman disease. Kidney Int 2002; 62:580–4.
14. Bulucu F, Vural A, Yenicesu M, Caglar K. Association of Gitelman’s syndrome and focal segmental glomerulosclerosis. Nephron 1998;79:244.
15. Hanevold C, Mian A, Dalton R. C1q nephropathy in association with Gitelman syndrome: a case report. Pediatr Nephrol 2006;21:1904– 8.
16. Ceri M, Unverdi S, Altay M, Unverdi H, Kurultak I, Yilmaz R, et al. Focal segmental glomerulosclerosis in association with Gitelman syndrome. Int Urol Nephrol 2011;43: 905–7.
17. Demoulin N, Aydin S, Cosyns JP, Dahan K, Cornet G, Auberger I, et al. Gitelman syndrome and glomerular proteinuria: A link between loss of sodium-chloride cotransporter and podocyte dysfunction? Nephrol Dial Transplant 2014; 29: iv117–20.
18. Larkins N, Wallis M, McGillivray B, Mammen C. A severe phenotype of Gitelman syndrome with increased prostaglandin excretion and favorable response to indomethacin. Clin Kidney J 2014;7:306-10.