Bartter Syndrome Differential Diagnoses

Updated: May 11, 2023
  • Author: Lynda A Frassetto, MD; Chief Editor: Vecihi Batuman, MD, FASN  more...
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Diagnostic Considerations

Patients with Gitelman syndrome tend to have milder symptoms than do those with Bartter syndrome and to present in adolescence and early adulthood. Often, patients have minimal symptomatology and lead relatively normal lives. [26, 31]

In a study of 163 patients with type III Bartter syndrome, Gitelman syndrome, or pseudo-Bartter syndrome/Gitelman syndrome, patients with pseudo- Bartter syndrome/Gitelman syndrome were significantly older at diagnosis than those in the other two groups. Compared with the Gitelman syndrome group, the pseudo-Bartter syndrome/Gitelman syndrome group included a significantly higher percentage of women and had a lower estimated glomerular filtration rate and body mass index. [32]  

Hypomagnesemia and hypocalciuria were observed in all three groups. Chronic kidney disease was observed in 40% of patients with type III Bartter syndrome, 12% of those with Gitelman syndrome, and 63% of those with pseudo- Bartter syndrome/Gitelman syndrome. [32]

Consider possible renal tubular disorder if patients, especially dehydrated infants and young children, are found to have hypokalemia and a high serum bicarbonate concentration that do not correct with potassium and chloride replacement treatment.

Cystic fibrosis (CF) may initially present as Pseudo-Bartter syndrome with electrolyte and acid-base abnormalities such as hypochloremia, hyponatremia, hypokalemia and metabolic alkalosis, especially in early childhood. [33]

Conditions to consider in the differential diagnosis of Bartter syndrome include the following:

  • Diuretic abuse
  • Gitelman syndrome
  • Hyperprostaglandin E syndrome
  • Familial hypomagnesemia with hypercalciuria/nephrocalcinosis
  • Activating mutations of the CaSR calcium-sensing receptor
  • Cyclical vomiting
  • Congenital chloride diarrhea
  • Gullner syndrome - Familial hypokalemic alkalosis with proximal tubulopathy
  • Mineralocorticoid excess
  • Pyloric stenosis
  • Hypomagnesemia
  • Cystic fibrosis
  • Hypochloremic alkalosis
  • Hypokalemia