Novel treatment with sucrosomial magnesium for hypomagnesemia in Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis (FHHNC)

Introduction: Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis (FHHNC) is a rare autosomal recessive disorder caused by mutations in the CLDN16 and CLDN19 genes, which encode claudins essential for paracellular magnesium and calcium reabsorption in the thick ascending limb. This defect results in significant renal magnesium loss, hypercalciuria, and progressive nephrocalcinosis, often leading to chronic kidney disease (CKD). Conventional magnesium supplementation is challenging due to its low bioavailability and frequent gastrointestinal side effects. Case Presentation: a 22-year-old female patient diagnosed with FHHNC had been on multiple magnesium supplementation regimens with poor gastrointestinal tolerance, leading to malabsorption, underweight and poor control on magnesium metabolism. She was given sucrosomial magnesium, a recent formulation designed to enhance bioavailability while minimizing gastrointestinal side effects, resulting in improving symptoms and biochemical blood tests. Conclusions: This case highlights the potential benefits of sucrosomial magnesium in managing patients with FHHNC, improving adherence and reducing treatment-associated adverse effects.