A Rare Presentation of Adult-Onset Bartter Syndrome: A Case Report

Abstract

Bartter syndrome is a rare, salt-wasting tubulopathy with impaired ion reabsorption in the ascending limb of the loop of Henle, which results in hypokalemia, hypochloremia, and hypercalciuria. It usually presents in neonates, with vomiting, dehydration, and failure to thrive. It results from mutations in several genes, including KCNJ1, CLCNKB, CLCNKA, BSND, and ROMK, which encode ion transporters. We report a rare presentation of adult-onset Bartter syndrome. In this case, a 27-year-old man presented to the hospital with upper and lower limb weakness. Bartter syndrome was suspected based on serum electrolytes assessment and arterial blood gas analysis. The patient was initiated on potassium chloride (KCL) infusion and potassium chloride syrup to correct hypokalemia.

Adult-Onset Bartter Syndrome: A Case Report

“…The prognosis is generally good assuming there is strict adherence to the treatment of choice provided by the clinician, however, some patients do develop chronic kidney disease as a result of long-term hypokalemia (2). Our limitation in this case is that the diagnosis was made solely on the bases of clinical presentation as our patient had most of the symptoms typically seen in an adult-onset BS, however, no genetic testing was done.…”

“…The disease is typically found in children and neonatal age groups but this does not exclude adolescents, it just makes them much more rare like the current case. BS is associated with a defect in the thick ascending limb due to mutations coding for either the potassiumsodium chloride cotransporter (NKCC2) or the potassium channel (ROMK) (2). The disease has an incidence of 1 per 1,000,000 people, making Gitelman a much more common disorder (5).…”

“…Elevated levels of calcium in a 24-hour urine examination are also very essential as it helps exclude Gitelman syndrome which is associated with low calcium excretion. With this in mind, genetic testing can also be used for confirmation of diagnosis (2). A genetic test was not performed for this case since the patient refused to give consent for genetic testing when asked about it.…”

“…Phenotypically, the disease is divided into either neonatal(antenatal) or classical BS which presents later in life. Genotypically, the disease has 5 different subtypes with the majority having a pediatric onset and presentation apart from types 3 and 5 (2). The disease has a unique characterization consisting of polyuria, polydipsia, hypercalciuria, hypokalemia, hyperaldosteronism, metabolic alkalosis, and blood pressure that could be either normal or low (3).…”