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
OBJECTIVE: To discuss the possibilities and prospects of using artificial intelligence (AI) in the diagnosis of prostate cancer (PC). The laboratory diagnosis of PC is considered and prostate images are analyzed according to transrectal ultrasound and magnetic resonance imaging using AI algorithms. Particular emphasis is placed on prostate histologic evaluation.
Subject(s)
Artificial Intelligence , Prostatic Neoplasms , Algorithms , Humans , Magnetic Resonance Imaging , Male , Prostatic Neoplasms/diagnosisABSTRACT
INTRODUCTION: Early diagnosis of renal cell carcinoma (RCC) is extremely difficult, due to the late development of clinical manifestations. The study of the aberrant expression of tumor-associated antigens and a production of autoantibodies to these proteins seems promising and novel method for RCC diagnosis. AIM: To evaluate the possibility of using arrestin-1 (Arr-1), recoverin (Rec) and autoantibodies against arrestin-1 (AAA1) and recoverin (AAR) as a kidney tumor biomarker. MATERIALS AND METHODS: Primary kidney tumors and metastases of 62 patients were investigated. For immunohistochemical studies, tissues were incubated with polyclonal antibodies against Rec and Arr1 as the main antibodies. Detection of AAR and AAA-1 in the serum of patients was performed using Western Blot analysis according to a standard protocol. RESULTS: Among 62 tumors, renal cell carcinoma (RCC) constitutes 50 cases (86.4%), and oncocytoma was diagnosed in 12 patients (19.4%). In 11 (22%) cases of RCC, distant metastases were detected. Positive expression of Rec was observed in almost 71% of all types of kidney tumors. In 61.3% of patients with RCC, Arr-1 expression was seen. In the serum, AAR was found only in 1 patient (1.6%) with RCC. However, unlike AAR, AAA-1 in the serum of patients was observed much more often (75.8%). CONCLUSION: According to our data, the presence of AAA1 in the serum, unlike AAR, can be considered as an early kidney tumor biomarker. The high expression of recoverin and arrestin-1 in kidney tumors suggests the use of these proteins in future as a marker for the diagnosis or even as a potential target for immunotherapy.
