Atıf İçin Kopyala
Guven S., GÖKCE İ., ALAVANDA C., Cicek N., Demirci E. B., SAK M., ...Daha Fazla
MARMARA MEDICAL JOURNAL, cilt.34, sa.3, ss.254-259, 2021 (ESCI)
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Yayın Türü:
Makale / Tam Makale
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Cilt numarası:
34
Sayı:
3
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Basım Tarihi:
2021
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Doi Numarası:
10.5472/marumj.1012351
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Dergi Adı:
MARMARA MEDICAL JOURNAL
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Derginin Tarandığı İndeksler:
Emerging Sources Citation Index (ESCI), Scopus, Academic Search Premier, CINAHL, EMBASE, TR DİZİN (ULAKBİM)
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Sayfa Sayıları:
ss.254-259
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Anahtar Kelimeler:
Bartter syndrome, Gitelman syndrome, Kidney tubuler disease, Hypokalemic metabolic alkalosis, CHLORIDE CHANNEL GENE, HYPOKALEMIC ALKALOSIS, MUTATIONS, CLCNKB, SPECTRUM, VARIANTS
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Marmara Üniversitesi Adresli:
Evet
Özet
Objective: Classical Bartter syndrome (cBS) and Gitelman syndrome (GS) are genotypically distinct, but there is a phenotypic overlap among these two diseases, which can complicate the accurate diagnosis without genetic analysis. This study aimed to evaluate the correlation between clinical and genetic diagnoses among patients who have genetically defined cBS and GS.