Rare Presentation of Cystinosis Mimicking Bartter's Syndrome: Reports of Two Patients and Review of the Literature

Abstract

We present here two girls with cystinosis initially diagnosed as Bartter syndrome. Both cases were admitted with hypokalemic, hypochloremic alkalosis. Their proximal tubular functions, ophthalmologic and bone marrow examinations were normal. They were started on therapies with the diagnosis of Bartter syndrome. The first patient developed signs of rickets, and the second patient was lost to follow-up and readmitted with chronic renal failure. On reevaluation cystine crystals were detected in cornea and bone marrow aspirates of both patients. We aimed to remind the rare presentation of cystinosis with metabolic alkalosis mimicking Bartter syndrome by these two cases and review the literature.

Keywords:

• cystinosis
• Bartter syndrome
• metabolic alkalosis

ACKNOWLEDGMENTS

The authors declare no conflicts of interest.