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Renal hypomagnesemia syndromes involving CNNM2 protein pathogenic variants are associated with variable degrees of neurocognitive dysfunction and hypomagnesemia. Here, we report a family with a novel CNNM2 p.Pro482Ala variant, presenting with overt hypomagnesemia and mild neurological involvement (autosomal dominant renal hypomagnesemia 6, HOMG6, MIM# 613882). Using a bioinformatics approach, we showed that the p.Pro482Ala amino acid substitution causes a 3D conformational change in CNNM2 structure in the cystathionin beta synthase (CBS) domain and the carboxy-terminal protein segment. A novel finding was that aldosterone inhibition with spironolactone helped to alleviate hypomagnesemia and symptoms in the proband.

Listeria monocytogenes has rarely been reported to cause peritonitis in peritoneal dialysis (PD) patients. Listeriosis is usually a severe disease with a mortality rate of 20 to 40% in humans despite early antibiotic treatment. In this report we present the first case in Greece of peritonitis caused by L. monocytogenes, in a chronic PD patient with severe cardiac failure. The patient received prolonged antibiotic therapy with vancomycin and netilmicin which resulted in peritonitis resolution. Unfortunately however, the listeria infection caused decompensation of the patient’s cardiac failure and led to his death, despite appropriate antibiotic treatment. When peritoneal fluid cultures yield gram positive rods in an immune-compromised patient or on a patient with severe underlying diseases who regularly consumes dairy products, the clinical suspicion of this rare infection must be immediately evaluated. Listeriosis can be fatal despite effective antibiotic therapy, since it affects patients with severe underlying pathologies.