A case of adult-onset Bartter syndrome with transient paraplegia

TL;DR

A 22-year-old man with no prior symptoms was diagnosed with adult-onset Bartter syndrome after experiencing sudden leg weakness and cramps.

Contribution

This case highlights the rare occurrence of adult-onset Bartter syndrome with transient paraplegia.

Findings

The patient showed hypokalemia, metabolic alkalosis, and elevated urinary potassium and serum renin.

Potassium replacement therapy was ineffective in alleviating symptoms.

The case lacked nephrocalcinosis, distinguishing it from prior reports.

Abstract

Bartter syndrome is a rare inherited renal tubular disorder characterised by metabolic alkalosis, hyperaldosteronism, and salt wasting due to defective salt reabsorption in the ascending loop of Henle. The disease is dominant in the antenatal and neonatal populations and rare in adults. Only a small number of studies present adult-onset Bartter syndrome. We present a case of an adult with transient paraplegia diagnosed with Bartter syndrome. A 22-year-old man presented with sudden bilateral lower limb weakness and cramps for two days, with no history of diarrhoea, vomiting, diuretics, laxatives, or addiction. Biochemical studies revealed hypokalemia, metabolic alkalosis, raised urinary potassium levels and raised serum renin. The potassium replacement therapy was initially ineffective in improving symptoms. The raised urinary calcium to creatinine ratio and normal serum magnesium level were noted. There was no nephrocalcinosis, unlike previously reported cases.