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Phenotypes and pathophysiology of hereditary nephropathies in cgildren (genetic causes of nephrotic syndrome and atypical hemolytic-uremic syndrome in Czech children)
Malina, Michal ; Seeman, Tomáš (advisor) ; Doležel, Zdeněk (referee) ; Skálová, Sylva (referee)
Hereditary nephropathies are a heterogeneous group of disorders comprising of diseases of the kidney per se and syndrome diseases where kidney pathology is predominantly manifested. We have focused on two important glomerulopathies manifesting predominantly in childhood - nephrotic syndrome with genetic background and atypical hemolytic uremic syndrome. In the first part of the work we present five years of observation of cohort of children with steroid resistant nephrotic syndrome. We have identified 32 cases from which 7 carried genetic mutations causing nephrotic syndrome (22%). Most striking finding in our group was high rate of responsiveness to cyclosporine in our cohort regardless of genotype of the patient. Even patients bearing mutation in NPHS2 gene showed partial responsiveness to cyclosporine (43%) Second part of the work focused on very rare disease of complement cascade - atypical hemolytic uremic syndrome. In retrospective study of 10 patients with familial presentation we found high rate of patients (n=4, 40%) with MCP mutations. This is in contrast to published cohorts where prevalence of these mutations is around 6-10%. All four our mutations were functionally tested and were proven as functionally relevant. All carriers showed decrease of MCP/CD46 molecules on cell surfaces. This...
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Infectious complications after kidney transplantation
Kačer, Martin ; Reischig, Tomáš (advisor) ; Pazdiora, Petr (referee) ; Seeman, Tomáš (referee)
3 Abstract Infectious complications after kidney transplantation In the general part of this work, the most common and typical infectious complications in renal transplant recipients are reviewed. The practical part presents results of our research on prevention of the most common infection in renal transplant recipients, cytomegalovirus infection. Globally, infection belongs amongst the main causes of morbidity of solid organ recipients and is the second leading cause of mortality in patients with a functioning kidney graft. In the first year post kidney transplant, approximately one half of recipients undergo a clinically apparent infectious complication and 20% of patients are hospitalized due to infection. Cytomegalovirus (CMV) is the most common viral infection in kidney transplant patients and its occurence is associated with serious negative consequences for both kidney and patient survival. Prevention of CMV is essential in renal transplant recipients. Valganciclovir, due to its efficacy and good bioavailability, is the most commonly used antiviral agent used in CMV prophylaxis. The only currently recommended alternative for the prevention of CMV in patients undergoing renal transplantation is valacyclovir. So far, studies comparing valacyclovir and valganciclovir for CMV prophylaxis in renal...
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Infectious complications after kidney transplantation
Kačer, Martin ; Reischig, Tomáš (advisor) ; Pazdiora, Petr (referee) ; Seeman, Tomáš (referee)
3 Abstract Infectious complications after kidney transplantation In the general part of this work, the most common and typical infectious complications in renal transplant recipients are reviewed. The practical part presents results of our research on prevention of the most common infection in renal transplant recipients, cytomegalovirus infection. Globally, infection belongs amongst the main causes of morbidity of solid organ recipients and is the second leading cause of mortality in patients with a functioning kidney graft. In the first year post kidney transplant, approximately one half of recipients undergo a clinically apparent infectious complication and 20% of patients are hospitalized due to infection. Cytomegalovirus (CMV) is the most common viral infection in kidney transplant patients and its occurence is associated with serious negative consequences for both kidney and patient survival. Prevention of CMV is essential in renal transplant recipients. Valganciclovir, due to its efficacy and good bioavailability, is the most commonly used antiviral agent used in CMV prophylaxis. The only currently recommended alternative for the prevention of CMV in patients undergoing renal transplantation is valacyclovir. So far, studies comparing valacyclovir and valganciclovir for CMV prophylaxis in renal...
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Association between proteinuria and graft survival in children after renal tran s plantation
Rosík, Tomáš ; Seeman, Tomáš (advisor) ; Doležel, Zdeněk (referee) ; Skálová, Sylva (referee)
- 1 - SUMMARY: The topic of this study was the association between proteinuria and graft survival after renal transplantation in children. In the first part of this study all 91 children transplanted in the Transplant center of the University Hospital Prague-Motol between the years 1997 and 2007 were retrospectively screened. The inclusion criteria were: a functioning graft 1 year posttransplant, the presence of data and no recurrence of FSGS. The final cohort included 75 patients. Proteinuria was considered pathological if the index protein/creatinine was more than 30 mg/mmol Cr. Demographic characteristics, data on proteinuria, eGFR and the results of renal biopsies were collected. Pathological proteinuria 1 year posttransplant was found in 26 (35%) patients. 5- year graft survival in proteinuric group was significantly lower than in non-proteinuric group (p < 0.001). The univariate analysis showed that the significant risk factors 1 year posttransplant related to decreased graft survival were acute and corticoresistant rejection, increased proteinuria and decreased eGFR. The multivariate analysis showed that the only significant risk factors were acute rejection and increased proteinuria. The most frequent histologic finding in the proteinuric group as well as in grafts lost during follow-up was chronic...
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Phenotypes and pathophysiology of hereditary nephropathies in cgildren (genetic causes of nephrotic syndrome and atypical hemolytic-uremic syndrome in Czech children)
Malina, Michal ; Seeman, Tomáš (advisor) ; Doležel, Zdeněk (referee) ; Skálová, Sylva (referee)
Hereditary nephropathies are a heterogeneous group of disorders comprising of diseases of the kidney per se and syndrome diseases where kidney pathology is predominantly manifested. We have focused on two important glomerulopathies manifesting predominantly in childhood - nephrotic syndrome with genetic background and atypical hemolytic uremic syndrome. In the first part of the work we present five years of observation of cohort of children with steroid resistant nephrotic syndrome. We have identified 32 cases from which 7 carried genetic mutations causing nephrotic syndrome (22%). Most striking finding in our group was high rate of responsiveness to cyclosporine in our cohort regardless of genotype of the patient. Even patients bearing mutation in NPHS2 gene showed partial responsiveness to cyclosporine (43%) Second part of the work focused on very rare disease of complement cascade - atypical hemolytic uremic syndrome. In retrospective study of 10 patients with familial presentation we found high rate of patients (n=4, 40%) with MCP mutations. This is in contrast to published cohorts where prevalence of these mutations is around 6-10%. All four our mutations were functionally tested and were proven as functionally relevant. All carriers showed decrease of MCP/CD46 molecules on cell surfaces. This...
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Correlation of genotype and phenotype in children with autosomal dominanat polycystic kidney disease
Fencl, Filip ; Seeman, Tomáš (advisor) ; Doležel, Zdeněk (referee) ; Merta, Miroslav (referee) ; Nečas, Emanuel (referee)
Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent inherited renal disorder with an incidence of 1:500-1:1000. It is characterized by progressive development of renal cysts leading to deterioration of renal function and chronic renal failure in adults. Other common renal complications are hypertension, proteinuria, macrohaematuria and urinary tract infections. Extrarenal complications include the cardiovascular system, gastrointestinal system and connective tissue abnormalities - most common are cardiac valve abnormalities, cerebral berry aneurysms and hepatic, pancreatic or spleen cysts, and herniae of the anterior abdominal wall. ADPKD is caused by mutation in one of two known genes - PKD1 (85% of patients) or PKD2 (14%). A proposed third gene PKD3 (about 1%) has not yet been localised. Many studies in adults have shown that patients with mutations in the PKD2 gene have a better prognosis than PKD1 patients. The mean age at end stage renal disease (ESRD) or death was 53 yrs in PKD1 and 69 yrs in PKD2, the mean age at ESRD in PKD1 was 54 yrs, in PKD2 74 yrs and the patients with PKD1 mutations had a four times higher prevalence of arterial hypertension. The cyst number and the volume of the cysts are higher in PKD1 than in PKD2 patients. Several studies have...
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