Mulberry bodies in the urine sediment of a patient with chronic kidney disease.

Objectives: Fabry disease is a hereditary disease caused by a mutation in the -galactosidase A (GLA) gene resulting in the accumulation of glycosphingolipids in different organs. Timely diagnosis is crucial for the early initiation of treatment to avoid organic dysfunction secondary to lipid accumulation. In view of the above, a number of studies have been performed to assess the role of mulberry bodies as a new diagnostic tool. In this study, we report a case demonstrating the utility of this test.

Case Presentation: We report the case of a woman of advanced age without a history of chronic disease with symptoms consistent with urinary tract infection (dysuria, pelvic pain, and frequent urination). Based on laboratory test results, a diagnosis of anemia with concomitant chronic kidney disease was established. Urine test revealed microhematuria, proteinuria, urine sediment, and the presence of lipid particles consistent with mulberry bodies.

Conclusions: The identification of mulberry bodies and cells in urine sediment is an easy-to-use tool potentially useful in diagnosing Fabry disease, which may contribute to initiate enzyme replacement therapy in a timely manner and reduce systemic deterioration.