Olgu Sunumu
Yıl 2018,
Cilt: 18 Sayı: 3, 454 - 457, 28.09.2018
Öz
Hipokalemi
sık görülen elektrolit bozukluklarından biridir. Azalmış potasyum alımı, hücre
içine artmış potasyum geçişi, gastrointestinal sistemden ya da üriner sistemden
artmış potasyum kaybı, ilaçlar gibi pek çok faktör hipokalemiye neden olabilir.
Gitelman sendromu hipokaleminin eşlik ettiği nadir görülen otozomal resesif
hastalıktır. Burada hipertiroidi nedeniyle tetkik edilirken Gitelman sendromu
tanısı konulan bir olguyu sunduk.
Anahtar Kelimeler
Kaynakça
- 1. Monnens L, Bindels R, Grünfeld JP. Gitelman syndrome comes of age. Nephrol Dial Transplant 1998;13(7):1617-9.
- 2. Blanchard A, Bockenhauer D, Bolignano D, et al. Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney Int 2017;91(1):24-33.
- 3. Cruz DN, Simon DB, Nelson-Williams C, et al. Mutations in the Na-Cl cotransporter reduce blood pressure in humans. Hypertension 2001;37(6):1458-64.
- 4. De Jong JC, Van Der Vliet WA, Van Den Heuvel LP, Willems PH, Knoers PH, Bindels RJ. Functional expression of mutations in the human NaCl cotransporter: evidence for impaired routing mechanisms in Gitelman's syndrome. J Am Soc Nephrol 2002;13(6):1442-8.
- 5. Vargas-Poussou R, Dahan K, Kahila D, et al. Spectrum of mutations in Gitelman syndrome. J Am Soc Nephrol 2011;22(4):693-703.
- 6. Ea HK, Blanchard A, Dougados M, Roux C. Chondrocalcinosis secondary to hypomagnesemia in Gitelman's syndrome. J Rheumatol 2005;32(9):1840-2.
- 7. Berry MR, Robinson C, Karet Frankl FE. Unexpected clinical sequelae of Gitelman syndrome: hypertension in adulthood is common and females have higher potassium requirements. Nephrol Dial Transplant 2013;28(6):1533-42.
- 8. Stein JH. The pathogenetic spectrum of Bartter's syndrome. Kidney Int 1985;28(1):85-93.
- 9. Blanchard A, Vargas-Poussou R, Vallet M, et al. Indomethacin, amiloride, or eplerenone for treating hypokalemia in Gitelman syndrome. J Am Soc Nephrol 2015;26(2):468-75.
- 10. Calo LA, Marchini F, Davis PA, Rigotti P, Pagnin E, Semplicini A. Kidney transplant in Gitelman's syndrome. Report of the first case. J Nephrol 2003;16(1):144-7.
Yıl 2018,
Cilt: 18 Sayı: 3, 454 - 457, 28.09.2018
Öz
Hypokalemia
is one of the commonly observed electrolyte disturbances. Many factors like
decreased potassium intake, increased intracellular potassium influx, increased
excretion from the gastrointestinal system or urinary tract, and drugs can
cause hypokalemia. Gitelman syndrome is a rare autosomal recessive disease
associated with hypokalemia. Here, we presented a case who was examined for
hyperthyroidism and finally diagnosed as Gitelman syndrome.
Anahtar Kelimeler
Kaynakça
- 1. Monnens L, Bindels R, Grünfeld JP. Gitelman syndrome comes of age. Nephrol Dial Transplant 1998;13(7):1617-9.
- 2. Blanchard A, Bockenhauer D, Bolignano D, et al. Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney Int 2017;91(1):24-33.
- 3. Cruz DN, Simon DB, Nelson-Williams C, et al. Mutations in the Na-Cl cotransporter reduce blood pressure in humans. Hypertension 2001;37(6):1458-64.
- 4. De Jong JC, Van Der Vliet WA, Van Den Heuvel LP, Willems PH, Knoers PH, Bindels RJ. Functional expression of mutations in the human NaCl cotransporter: evidence for impaired routing mechanisms in Gitelman's syndrome. J Am Soc Nephrol 2002;13(6):1442-8.
- 5. Vargas-Poussou R, Dahan K, Kahila D, et al. Spectrum of mutations in Gitelman syndrome. J Am Soc Nephrol 2011;22(4):693-703.
- 6. Ea HK, Blanchard A, Dougados M, Roux C. Chondrocalcinosis secondary to hypomagnesemia in Gitelman's syndrome. J Rheumatol 2005;32(9):1840-2.
- 7. Berry MR, Robinson C, Karet Frankl FE. Unexpected clinical sequelae of Gitelman syndrome: hypertension in adulthood is common and females have higher potassium requirements. Nephrol Dial Transplant 2013;28(6):1533-42.
- 8. Stein JH. The pathogenetic spectrum of Bartter's syndrome. Kidney Int 1985;28(1):85-93.
- 9. Blanchard A, Vargas-Poussou R, Vallet M, et al. Indomethacin, amiloride, or eplerenone for treating hypokalemia in Gitelman syndrome. J Am Soc Nephrol 2015;26(2):468-75.
- 10. Calo LA, Marchini F, Davis PA, Rigotti P, Pagnin E, Semplicini A. Kidney transplant in Gitelman's syndrome. Report of the first case. J Nephrol 2003;16(1):144-7.
Toplam 10 adet kaynakça vardır.
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Konular | Sağlık Kurumları Yönetimi |
| Bölüm | Olgular |
| Yazarlar | |
| Yayımlanma Tarihi | 28 Eylül 2018 |
| Yayımlandığı Sayı | Yıl 2018 Cilt: 18 Sayı: 3 |