Differential diagnosis of classical Bartter syndrome and Gitelman syndrome: Do we need genetic analysis?

Guven S., GÖKCE İ., ALAVANDA C., Cicek N., Demirci E. B. , SAK M., ...More

MARMARA MEDICAL JOURNAL, vol.34, no.3, pp.254-259, 2021 (ESCI) identifier

  • Publication Type: Article / Article
  • Volume: 34 Issue: 3
  • Publication Date: 2021
  • Doi Number: 10.5472/marumj.1012351
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus, Academic Search Premier, CINAHL, EMBASE, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.254-259
  • Keywords: Bartter syndrome, Gitelman syndrome, Kidney tubuler disease, Hypokalemic metabolic alkalosis, CHLORIDE CHANNEL GENE, HYPOKALEMIC ALKALOSIS, MUTATIONS, CLCNKB, SPECTRUM, VARIANTS
  • Marmara University Affiliated: Yes


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.