Use of nonsteroidal mineralocorticoid receptor antagonist in chronic kidney disease: A case report of a patient with Fabry disease in his mid-20s.

Fabry disease is a rare X-linked lysosomal storage disorder caused by a defect in glycosphingolipid metabolism, which leads to the accumulation of globotriaosylceramide (Gb3) in various cell types. It has diverse clinical manifestations, often making diagnosis challenging. This report presents the case of a male patient in his mid-20s with Fabry disease who presented with recurrent lower limb edema and proteinuria. He was ultimately diagnosed and treated with enzyme replacement therapy in combination with a nonsteroidal mineralocorticoid receptor antagonist. Since 2018, the patient's serum creatinine level and 24-h urinary protein excretion had progressively increased, while his estimated glomerular filtration rate and hemoglobin levels had decreased. Following the addition of the nonsteroidal mineralocorticoid receptor antagonist to the treatment regimen, these parameters gradually improved and stabilized. Long-term follow-up of the patient is ongoing. This case suggests that combining enzyme replacement therapy with a nonsteroidal mineralocorticoid receptor antagonist aids in arresting disease progression and improving prognosis in patients with Fabry disease.