Late-Onset Bartter Syndrome

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Introduction: Bartter syndrome (BS) is an autosomal recessive disorder that results from mutations in sodium chloride reabsorption in the thick ascending loop of Henle. The age of onset is usually late childhood or early adulthood and it is rare to have the disease onset in adulthood. We are presenting a rare case of late-onset Bartter syndrome. Case Description: A 55-year-old female with PMH of supraventricular tachycardia was admitted to the hospital with chest pain and palpitations. She had a history of multiple hospital admissions in the past with hypotension and electrolyte abnormalities. She denied any history of diarrhea or recent use of diuretics or laxatives. Initial Blood pressure was 100/60 mmHg and HR was 100 bpm. The lab results are summarized in Table A. CT scan of the pelvis showed bilateral nephrocalcinosis. She received IV fluid resuscitation, magnesium and potassium supplementation and spironolactone with subsequent improvement of her symptoms. Discussion: BS is classified into five types based on the genetic characters of the disease. Type 3 is associated with classic BS. The chromosomal mutations are associated with a variable degree of disease severity. The mutation types have been identified as large deletions, missense and nonsense mutations. This patient likely has type 3 BS but her mutation type could be a missense mutation so that only one or few amino acids are altered leading to late-onset of her syndrome. The standard treatment is electrolyte repletion. Specific treatment therapy continues to be an ongoing source of research. ACE inhibitors and spironolactone can play a role in blocking the RAAS system. NSAIDs can be used to suppress the high level of PGE2 associated with the disease. - Urine study Blood Work POTASSIUM 30 meq SODIUM 135 med CACLIUM 15 mg/dl POTASSIUM 2.9 meq Calcium creatinine ratio 0.2 PHOSPHORUS 1 meq TTKG 14 MAGNSIUM 1.4 meq Urine cortisone 27 ug/l CACLIUM 8.2 mg/dl Urine cortisol 1.8 ug/l CL 84 mmol/l Cortisone cortisol ratio 50 HCO3 40 mmol/l Renin 7 ng/ml/hr Aldosterone 8 ng/dl Aldosterone renin ratio 50

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