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SLC12A3 gene displaying known exons with mutations identified in the cases marked. Following the molecular analysis, both sisters were electively admitted to hospital to determine prostaglandin (PGE2) excretion while off indomethacin therapy. We felt that this admission would clarify the Epacadostat in vivo need for long-term indomethacin therapy in both patients, given this therapy is normally prescribed for cases of BS and carries significant long-term risks of renal and gastrointestinal toxicity. Further investigations Indomethacin was held for 48 h prior to admission (washout period), but regular supplements were continued in both siblings. Upon admission, initial bloodwork revealed severe hypokalemia (2.5 mmol/L in both) with metabolic alkalosis (Case 1: HCO3? 32 mmol/L, Case 2: HCO3? 33 mmol/L). Both siblings were polyuric upon presentation (Case 1: 5.5 mL/kg/h, Case 2: 8.8 mL/kg/h). Twenty-four-hour urine prostaglandin E2 (PGE2) excretion was significantly elevated at 2059 ng/day/1.73 m2 in Case 1 and 3609 ng/day/1.73 m2 in Case 2 (normal range 48�C394 ng/24 h/1.73 m2) [10]. After a bolus of normal saline (20 mL/kg) and following 48 h of intravenous fluids (maintenance rate), urine PGE2 excretion decreased to normal ranges in both siblings (Case 1: 374 ng/24 h/1.73 m2, Case 2: 312 ng/24 h/1.73 m2 in Case 2). Based on these results, a decision was made to reintroduce indomethacin at their previous doses. It was thought unlikely that the siblings would be able to consume sufficient oral fluids and salt supplementation to replicate Selleckchem MG 132 the effects of the intravenous volume expansion achieved in hospital. The polyuria and electrolyte/acid�Cbase derangements again improved within 1 week of restarting therapy. Discussion The classic description of GS is of a benign salt-wasting condition most often diagnosed in adulthood [1, 3]. However, in more recent literature, GS appears to be responsible for a wider ATPase spectrum of disease than initially appreciated [4, 19, 20]. A limited number of reports have emerged describing children affected as early as the neonatal period [21, 22]. Also mentioned within larger cohort descriptions of GS are cases presenting at