Case Report

Erken Başlangıçlı Gitelman Sendromu Olgusu

Volume: 12 Number: 4 December 30, 2018

Erken Başlangıçlı Gitelman Sendromu Olgusu

Abstract

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.

Keywords

References

  1. 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. 2. Knoers NV, Levtchenko EN. Gitelman syndrome. Orphanet J Rare Dis 2008 30;3:22.
  3. 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. 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. 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. 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. 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. 8. Nandi M, Pandey G, Sarkar S. Gitelman syndrome in an infant. Indian J Nephrol 2015; 25:316.

Details

Primary Language

Turkish

Subjects

​Internal Diseases

Journal Section

Case Report

Publication Date

December 30, 2018

Submission Date

January 14, 2018

Acceptance Date

June 1, 2018

Published in Issue

Year 2018 Volume: 12 Number: 4

APA
Atmış, B. (2018). Erken Başlangıçlı Gitelman Sendromu Olgusu. Türkiye Çocuk Hastalıkları Dergisi, 12(4), 293-295. https://doi.org/10.12956/tjpd.2018.368
AMA
1.Atmış B. Erken Başlangıçlı Gitelman Sendromu Olgusu. Turkish J Pediatr Dis. 2018;12(4):293-295. doi:10.12956/tjpd.2018.368
Chicago
Atmış, Bahriye. 2018. “Erken Başlangıçlı Gitelman Sendromu Olgusu”. Türkiye Çocuk Hastalıkları Dergisi 12 (4): 293-95. https://doi.org/10.12956/tjpd.2018.368.
EndNote
Atmış B (December 1, 2018) Erken Başlangıçlı Gitelman Sendromu Olgusu. Türkiye Çocuk Hastalıkları Dergisi 12 4 293–295.
IEEE
[1]B. Atmış, “Erken Başlangıçlı Gitelman Sendromu Olgusu”, Turkish J Pediatr Dis, vol. 12, no. 4, pp. 293–295, Dec. 2018, doi: 10.12956/tjpd.2018.368.
ISNAD
Atmış, Bahriye. “Erken Başlangıçlı Gitelman Sendromu Olgusu”. Türkiye Çocuk Hastalıkları Dergisi 12/4 (December 1, 2018): 293-295. https://doi.org/10.12956/tjpd.2018.368.
JAMA
1.Atmış B. Erken Başlangıçlı Gitelman Sendromu Olgusu. Turkish J Pediatr Dis. 2018;12:293–295.
MLA
Atmış, Bahriye. “Erken Başlangıçlı Gitelman Sendromu Olgusu”. Türkiye Çocuk Hastalıkları Dergisi, vol. 12, no. 4, Dec. 2018, pp. 293-5, doi:10.12956/tjpd.2018.368.
Vancouver
1.Bahriye Atmış. Erken Başlangıçlı Gitelman Sendromu Olgusu. Turkish J Pediatr Dis. 2018 Dec. 1;12(4):293-5. doi:10.12956/tjpd.2018.368

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