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., ...Daha Fazla

MARMARA MEDICAL JOURNAL, cilt.34, sa.3, ss.254-259, 2021 (ESCI) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 34 Sayı: 3
  • Basım Tarihi: 2021
  • Doi Numarası: 10.5472/marumj.1012351
  • Dergi Adı: MARMARA MEDICAL JOURNAL
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, Academic Search Premier, CINAHL, EMBASE, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.254-259
  • Anahtar Kelimeler: Bartter syndrome, Gitelman syndrome, Kidney tubuler disease, Hypokalemic metabolic alkalosis, CHLORIDE CHANNEL GENE, HYPOKALEMIC ALKALOSIS, MUTATIONS, CLCNKB, SPECTRUM, VARIANTS
  • 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.