Two cases of Fabry disease characterized by the appearance of mulberry bodies that did not present an eddy-formed structure

Abstract

Fabry disease is a lysosomal storage disorder caused by a deficiency in α-galactosidase A. It is an X-linked inherited disease that develops mostly in men having only one X chromosome, but it may also develop in women. For men with the classical-type Fabry disease, symptoms such as pain, angiokeratoma, and hypohidrosis of the limbs appear from childhood. Patients with the late-onset type show symptoms mainly in the heart or kidney later in adulthood. The classical type is characterized by low enzyme activity, whereas the late-onset type shows slightly low enzyme activity. There are also women who are asymptomatic, whereas others show severe symptoms. In the sediments of urine from patients with Fabry disease, mulberry bodies and mulberry cells appear. It is characterized by the appearance of an eddy form. Here, we report 2 cases of the disease characterized by the appearance of mulberry bodies that did not present an eddy-formed structure.