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Mutational analysis of the TRPC6 gene in patients with nephrotic syndrome
Obeidová, Lena ; Reiterová, Jana (advisor) ; Schierová, Michaela (referee)
Focal segmental glomerulosclerosis is one of the commonest cause of the nephrotic syndrome in adults patients. It is a damage of glomerulus characterized by leakage of proteins to urine and oedemas which usually develops into the end-stage renal disease within 10 years. Recently have been described familial forms of this disease which arise from injury to proteins making up filtration barrier of kidney. In 2005 non-selective ion channel TRPC6 was assigned among these proteins. In this thesis I focused on summarizing existing knowledge of the nephrotic syndrome, focal segmental glomerulosclerosis and involvement of TRPC6 in their origin. Second part of this work is devoted to the screening analysis of TRPC6 gene to discover possible mutations and polymorfisms in 47 patients with histologically proven focal segmental glomerulosclerosis or minimal change disease. The used methods were high resolution melting and direct sequencing. In the group of patients was detected no pathogenic mutation, only 2 known polymorfisms P15S and A404V and few changes which do not result in alteration of amino acid. So it seems TRPC6 gene mutations are a rare cause of the focal segmental glomerulosclerosis in adult patients in the Czech Republic.
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Diagnosis and treatment of glomerulonephritis in children
Šejvlová, Barbora ; Nejmanová, Iveta (advisor) ; Kudláčková, Zděnka (referee)
Charles University in Prague, Faculty of Pharmacy in Hradec Králové Department of Biological and Medical Sciences Author: Barbora Šejvlová Leader: PharmDr. Iveta Nejmanová, Ph.D Form: Bachelor thesis Field of study: Medical Laboratory Technician Title: Diagnosis and treatment of glomerulonephritis in children Aim of the work: The aim of this theses is to present current examination methods for kidney disease and to describe in more detail the types of glomerulonephritis. A part of the work is also a case report of teenage girl who suffered from glomerulonephritis. Main findings: The thesis is divided into 5 parts. The first part contains information about the anatomy of the kidneys, the physiology of the kidneys and inflammatory diseases of the kidneys. The second part deals with all possible examination methods in nephrology. The chapter describes the examination of urine, which is further divided into the technique of sample acquisition, diuresis, techniques of sample examination, proteinuria and hematuria. In this chapter we will focus on ultrasonography, immunology and renal biopsy too. In the third part we will get acquainted with acute glomerulonephritis. We will discuss rapidly progressing glomerulonephritis in the fourth part. The last chapter is devoted to chronic glomerulonephritis....
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Oxidative and carbonyl stress in kidney diseases
Kratochvílová, Markéta ; Tesař, Vladimír (advisor) ; Průša, Richard (referee) ; Zadražil, Josef (referee)
Aims: 1. Determination of AGEs (Advanced Glycation End products) in patients with various types of nephropathy. 2. Association AGEs with nutritional parameters and anemia. 3. Influence of renal parameters on sRAGE (soluble form of Receptor for Advanced Glycation End products) levels. 4. Technics and proceeding methods of the podocytes cultivation. 5. Determination of urine podocytes. Methods: We determined fluorescent AGEs by spectrofluorometry, sRAGE by Enzyme-Linked ImmunoSorbent Assay (ELISA). Podocytes were passaged and identified immunocytochemically. Podocytes in urine were specified by flow cytometry method. Results: 1. We did not find significant differences in AGEs serum levels among various types of nephropathy, even though the pathogenesis differs. 2. The albumin and prealbumin levels positively and haemoglobin levels negatively correlate with AGEs in patients with CKD grade 1-5, without necessity of dialysis. 3. Serum sRAGE levels are increased in patients with decreased renal function independently on the course of renal disease. 4. We implemented the methods and technics of podocyte cultivation. 5. Urine podocytes observation and confirmation that podocyturia relates to disease activity. Conclusion: We confirmed that AGEs serum levels depend more on renal function than the type of...
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Oxidative and carbonyl stress in kidney diseases
Kratochvílová, Markéta ; Tesař, Vladimír (advisor) ; Průša, Richard (referee) ; Zadražil, Josef (referee)
Aims: 1. Determination of AGEs (Advanced Glycation End products) in patients with various types of nephropathy. 2. Association AGEs with nutritional parameters and anemia. 3. Influence of renal parameters on sRAGE (soluble form of Receptor for Advanced Glycation End products) levels. 4. Technics and proceeding methods of the podocytes cultivation. 5. Determination of urine podocytes. Methods: We determined fluorescent AGEs by spectrofluorometry, sRAGE by Enzyme-Linked ImmunoSorbent Assay (ELISA). Podocytes were passaged and identified immunocytochemically. Podocytes in urine were specified by flow cytometry method. Results: 1. We did not find significant differences in AGEs serum levels among various types of nephropathy, even though the pathogenesis differs. 2. The albumin and prealbumin levels positively and haemoglobin levels negatively correlate with AGEs in patients with CKD grade 1-5, without necessity of dialysis. 3. Serum sRAGE levels are increased in patients with decreased renal function independently on the course of renal disease. 4. We implemented the methods and technics of podocyte cultivation. 5. Urine podocytes observation and confirmation that podocyturia relates to disease activity. Conclusion: We confirmed that AGEs serum levels depend more on renal function than the type of...
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Mutational analysis of the TRPC6 gene in patients with nephrotic syndrome
Obeidová, Lena ; Reiterová, Jana (advisor) ; Schierová, Michaela (referee)
Focal segmental glomerulosclerosis is one of the commonest cause of the nephrotic syndrome in adults patients. It is a damage of glomerulus characterized by leakage of proteins to urine and oedemas which usually develops into the end-stage renal disease within 10 years. Recently have been described familial forms of this disease which arise from injury to proteins making up filtration barrier of kidney. In 2005 non-selective ion channel TRPC6 was assigned among these proteins. In this thesis I focused on summarizing existing knowledge of the nephrotic syndrome, focal segmental glomerulosclerosis and involvement of TRPC6 in their origin. Second part of this work is devoted to the screening analysis of TRPC6 gene to discover possible mutations and polymorfisms in 47 patients with histologically proven focal segmental glomerulosclerosis or minimal change disease. The used methods were high resolution melting and direct sequencing. In the group of patients was detected no pathogenic mutation, only 2 known polymorfisms P15S and A404V and few changes which do not result in alteration of amino acid. So it seems TRPC6 gene mutations are a rare cause of the focal segmental glomerulosclerosis in adult patients in the Czech Republic.
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