MARMARA MEDICAL JOURNAL, vol.34, no.3, pp.254-259, 2021 (ESCI)
Article / Article
MARMARA MEDICAL JOURNAL
Emerging Sources Citation Index (ESCI), Scopus, Academic Search Premier, CINAHL, EMBASE, TR DİZİN (ULAKBİM)
Bartter syndrome, Gitelman syndrome, Kidney tubuler disease, Hypokalemic metabolic alkalosis, CHLORIDE CHANNEL GENE, HYPOKALEMIC ALKALOSIS, MUTATIONS, CLCNKB, SPECTRUM, VARIANTS
Marmara University Affiliated:
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.