Pharmacophore an International Research Journal
Background: Bartter’s syndrome (BS) is a group of kidney genetic tubulopathies, which presents with hypokalemia, hyperaldosteronism, metabolic alkalosis, with juxtaglomerular apparatus hyperplasia. These genetic defects usually involve proteins crucial in tubular fluid reabsorption in the thick ascending limb part of Henle’s loop. This inherited renal tubular disease affects around 1 person in a million of the general population. Unfortunately, this disease is associated with higher mortality in the antenatal and neonatal periods. Objectives: We aimed to review the literature regarding the pathophysiology of Bartter’s syndrome, clinical features, risk factors, diagnosis, and the management of this disease. Methodology: PubMed database was used for articles selection, papers were obtained and reviewed. Conclusion: Bartter syndrome is not curable yet, however, management of the clinical signs and symptoms is achievable. Physician’s clinical suspicion, good history taking, and physical examination skills are paramount to diagnose this syndrome along with some key tests. The importance of early diagnosis and management is immeasurable since deadly complications (such as sudden cardiac death), and long-term complications (like short stature) can be avoided. Nevertheless, a new basis for treatment based on treating the defected genes are being developed and the development of personalized therapeutic options for this syndrome may provide a permanent cure for these.
