Long-term survival with congenital Bartter syndrome: A case report

Abstract

Bartter syndrome is a rare congenital salt-wasting renal tubular disorder, caused by defective salt reabsorption in the thick ascending limb of the loop of Henle. It is characterized by hypokalaemia, hyponatraemia, hypochloraemia, metabolic alkalosis, hyper-reninaemia, and hyperaldosteronism.

A 26 years old male, resident of Karachi, Pakistan, survived of congenital Bartter Syndrome, with regular quarterly follow up. At the age of 3 years, he got severe vomiting and diarrhoea and developed hypovolaemic shock.  He was investigated and clinically diagnosed with Bartter Syndrome based on serum electrolytes imbalance (hypokalaemia/ hyponatraemia/ hypochloraemia), arterial blood gas analysis (metabolic alkalosis) and raised serum renin and aldosterone levels. Urine analysis also showed elevated sodium, potassium, chloride, calcium, and prostaglandin E2 excretion. After diagnosis, the patient was managed with oral indomethacin and potassium supplements during follow up visits. This is the first reported case of a long-term survivor of congenital Bartter syndrome from Pakistan.

Keywords: Bartter Syndrome, polyuria, hypokalaemia, hypochloraemia, metabolic alkalosis.