ABSTRACT
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.
Subject(s)
Fabry Disease , Podocytes , Fabry Disease/genetics , Humans , Kidney , Kidney Glomerulus , alpha-Galactosidase/geneticsABSTRACT
AIM: To determine the frequency, clinical and morphological features of a nephropathy with C1q deposits in chronic glomerulonephritis adult patients. MATERIALS AND METHODS: 296 specimens of kidneys of patients with a chronic glomerulonephritis (CGN) from 2014 for 2018 were analyzed. At the first step, specimens with C1q deposits in glomeruli revealed by immunofluorescent method were chosen. Lupus nephritis and primary membranoproliferative glomerulonephritis were exclusion criteria. At the second step, the retrospective analysis of the clinical characteristics was carried out. RESULTS AND DISCUSSION: Deposits of C1q in kidneys at 12 of 296 (4.05%) CGN were revealed, m:f ratio 2:1. Average age of the beginning of a disease was 32.1±14.7 years. At a morphological research in 8 membranous nephropathy (MN), in 2 mesangioproliferative glomerulonephritis (MesPGN), in 2 - nephrosclerosis was revealed. Among 12 patients in 5 the disease debuted a nephrotic syndrome, at the others - a proteinuria from 0.5 to 4.0 g/days with the subsequent formation of a nephrotic syndrome. In 5 of 12 patients the disease was characterized by a favor course with preserved kidney function. At 7 patients at the time of inspection decrease in function of kidneys [glomerular filtration rate (eGFR) 31 (30-34) ml/min] was noted. 5 had slow progressing of a renal failure. 2 of 12 progressed to renal failure (eGFR to 19 and 24 ml/min) within a year. CONCLUSION: Deposits of C1q in kidney were revealed in 4.05% of biopsy specimens in CGN. The most frequent morphological form was the membranous nephropathy. The clinical course was characterized by a nephrotic syndrome, more than at a half of patients - with renal dysfunction.
ABSTRACT
C1q glomerulopathy is a rare variety of chronic glomerulonephritis manifested as C1q deposition revealed by immunofluorescence microscopy. The pathogenesis and etiology of the disease have not been studied. The paper deals with the results of clinical, morphological, immunofluorescence, and electron microscopic examinations in 13 patients with C1q glomerulopathy. Light microscopy more commonly revealed membranous nephropathy, mesangioproliferative glomerulonephritis, and nephrosclerosis. Immunofluorescence microscopy detected a C1q fraction in association with other deposits, more frequently IgM and IgG ones. A correlation was found between the clinical presentation and morphological form of chronic glomerulonephritis.