[Morphological characteristics of renal changes in Fabry disease].

UNLABELLED: Fabry disease is an X-linked progressive lysosomal disease caused by a mutation in the gene that encodes the enzyme alpha-galactosidase A and leads to the intracellular accumulation of globotriazylceramide (GL-3). Kidney damage manifested itself as microproteinuria and microalbuminuria, followed by renal failure, is fatal to a patient.

MATERIAL AND

METHODS

Fabry disease was diagnosed in 5 out of 600 cases of various kidney diseases, by using the 2014-2018 material. Light-optical, immunohistochemical, and electron microscopy methods were used to examine kidney biopsy specimens in Fabry disease.

RESULTS

The glomeruli clearly exhibited intralysosomal inclusions, myelin bodies, and fatty vacuoles in the cytoplasm of podocytes, the small processes of which were predominantly reduced. The mesangial space was expanded; the mesangiocytes were in the proliferation state; there were fatty vacuoles in the cytoplasm; the deposits of immune complexes located intramembranously and paramesangially were also found in all cases. An immunohistochemical study revealed that each case was detected to have fixations of IgG, kappa and lambda immunoglobulin chains on the glomerular basement membrane of focal granular pattern. There was fixation of fibrinogen in 3 cases, that of IgM in 2 cases, and that of IgA and complement component 3 in one case. Thus, it can be supposed that although Fabry disease is a lysosomal disease with deposits in the podocytes and mesangiocytes of myelin bodies and fatty vacuoles; however, immunohistochemical and electron microscopic studies cannot exclude the involvement of immune processes in the development of glomerular injury.

CONCLUSION

Fabry disease is a rare lysosomal disease accompanied by globotriazylceramide deposits in the podocytes and mesangiocytes. However, at the same time, the fact that immune mechanisms are involved in the development of this disease cannot be denied.