Home Parenteral Support in Severe Gitelman Syndrome: A Case Report

Area of Science:

• Nephrology
• Genetics
• Internal Medicine

Background:

• Gitelman syndrome (GS) is a rare autosomal recessive renal tubular disorder.
• Key features include hypokalemia, hypomagnesemia, metabolic alkalosis, and hypocalciuria.
• Standard management involves oral potassium and magnesium supplementation.

Purpose of the Study:

• To report a case of severe Gitelman syndrome managed with home parenteral support (HPS).
• To highlight the challenges and benefits of long-term intravenous electrolyte replacement.
• To emphasize the importance of multidisciplinary care in optimizing treatment.

Main Methods:

• Case report of a 65-year-old woman with severe GS.
• Initial management with high-dose intravenous electrolyte replacement via HPS.
• Transition to a shared care model with an intestinal failure (IF) unit.

Main Results:

• HPS was life-saving but led to catheter-related bloodstream infections (CRBSI) and venous thromboses (CRVT).
• Transition to shared care rationalized electrolyte needs and reduced treatment burden.
• No further CRBSIs or catheter exchanges occurred after the transition.

Conclusions:

• Severe GS may necessitate daily intravenous electrolyte replacement.
• Collaborative care between nephrology and IF units is crucial for optimizing outcomes.
• Shared care models can enhance quality of life and reduce complications in patients with chronic conditions.