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. 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.
Abstract
References
- 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.
Details
| Primary Language | Turkish |
|---|---|
| Subjects | Internal Diseases |
| Journal Section | Case Report |
| Authors | |
| Publication Date | December 30, 2018 |
| Submission Date | January 14, 2018 |
| Published in Issue | Year 2018 Volume: 12 Issue: 4 |
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