Home Parenteral Support in Severe Gitelman Syndrome: A Case Report
Abstract
Gitelman syndrome (GS), also known as familial hypokalaemia‐hypomagnesemia, is a rare autosomal recessive renal tubular disorder characterized by hypokalaemia, hypomagnesemia, metabolic alkalosis, and hypocalciuria. Electrolyte replacement of potassium and magnesium remains the mainstay of management, with oral supplementation achieving this in the majority of patients. We report the case of a 65‐year‐old woman with a severe manifestation of GS, managed with high‐dose intravenous electrolyte replacement as part of a home parenteral support (HPS) regimen in addition to oral supplementation. Initiation of HPS, whilst life‐saving and life‐prolonging, also negatively impacted her quality of life and was complicated by multiple catheter‐related bloodstream infections (CRBSI) and catheter‐related venous thromboses (CRVT). After 15 years of HPS, her management was transitioned to a shared care model under an accredited multidisciplinary intestinal failure (IF) unit. Her significant parenteral electrolyte requirement was subsequently rationalized, and provision of compounded home infusions reduced her treatment burden by allowing her to sleep through each night without additional connections and disconnections. No further episodes of CRBSIs occurred, and no further venous catheter exchanges were necessary. In this case report, we illustrate the presentation of severe GS, highlight the necessity of daily intravenous electrolyte replacement in such cases, and emphasize how…
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