Novel CLCNKB Mutation in Two Siblings With Classic Bartter Syndrome

Abstract

Background: Bartter syndrome is a rare genetic illness characterized by impairment in kidney function caused by different gene defects. The primary pathogenic mechanism of Bartter syndrome is defective salt reabsorption, predominantly in the thick ascending limb of the loop of Henle. Case Presentation: Here, we present a case series between 2 siblings diagnosed with Bartter syndrome through clinical and genetic analyses. Both patients presented with severe dehydration secondary to polyuria which caused persistent electrolyte imbalances. However, the second sibling presented with hydrocephalus which may be associated with Bartter Syndrome. Genetic analysis determined the presence of a known pathogenic mutation and a novel mutation in the CLCNKB variant. Conclusions: Bartter syndrome Type III is a genetic disorder that must be identified clinically without delay, as it typically manifests as acute dehydration due to polyuria and vomiting. Hydrocephalus, although cannot be concluded to be a complication of Bartter syndrome, can be associated due to several electrolyte imbalances involved in this condition. Genetic testing is essential for identifying unidentified pathogenic variants that will aid future patients diagnosed with this condition. Genetic counseling is of the utmost importance for these families affected by the condition in question.

Keywords: CLCNKB; bartter syndrome; novel mutation.