Son zamanlarda adelosan yasta hipertansiyon gorulme sikligi artmaktadir. Bu artis obezite sikligi... more Son zamanlarda adelosan yasta hipertansiyon gorulme sikligi artmaktadir. Bu artis obezite sikliginda artis ile paralellik gostermektedir. Adelosan yas grubunda hipertansiyonun ana nedeni esansiyel hipertansiyondur. Ancak hipertansiyonun diger nadir nedenlerinin esansiyel hipertansiyon teshisi oncesinde ayirici tanisi yapilmalidir. Bobrek kitleleri cocuklarda sik gorulmeyen iyi veya kotu huylu olusumlardir. Bobrek kitleleri cocukluk caginda hipertansiyonun nadir nedenidir. Anjiyomiyolipom (AML), cocukluk caginda nadir bobrek mezenkimal tumorlerinden biridir. AML genellikle tubero skleroz (TS) ile bir arada olup TS klinik olarak on plandadir. Burada TSnin eslik etmedigi malign HT olarak ortaya cikan bir AML olgusunu sunduk. Adelosan donemde malign hipertansiyon nedeni olarak bobrek anjiyomiyolipomu olabilecegi unutulmamalidir.
Background Uraemic cardiac remodelling is associated with vitamin D and Klotho deficiency, elevat... more Background Uraemic cardiac remodelling is associated with vitamin D and Klotho deficiency, elevated fibroblast growth factor 23 (FGF23) and activation of the renin–angiotensin system (RAS). The cardioprotective properties of active vitamin D analogues in this setting are unclear. Methods In rats with 5/6 nephrectomy (5/6Nx) treated with calcitriol, the cardiac phenotype and local RAS activation were investigated compared with controls. A nested case–control study was performed within the Cardiovascular Comorbidity in Children with Chronic Kidney Disease (4C) study, including children with chronic kidney disease (CKD) Stages 3–5 [estimated glomerular filtration rate (eGFR) 25 mL/min/1.73 m2] treated with and without active vitamin D. Echocardiograms, plasma FGF23 and soluble Klotho (sKlotho) were assessed at baseline and after 9 months. Results In rats with 5/6Nx, left ventricular (LV) hypertrophy, LV fibrosis and upregulated cardiac RAS were dose-dependently attenuated by calcitriol...
Clinical journal of the American Society of Nephrology : CJASN, Jul 16, 2016
Vitamin D deficiency is endemic in children with CKD. We sought to investigate the association of... more Vitamin D deficiency is endemic in children with CKD. We sought to investigate the association of genetic disposition, environmental factors, vitamin D supplementation, and renal function on vitamin D status in children with CKD. Serum 25-hydroxy-vitamin D, 1,25-dihydroxy-vitamin D, and 24,25-dihydroxy-vitamin D concentrations were measured cross-sectionally in 500 children from 12 European countries with CKD stages 3-5. All patients were participants of the Cardiovascular Comorbidity in Children with Chronic Kidney Disease Study, had CKD stage 3-5, and were age 6-18 years old. Patients were genotyped for single-nucleotide polymorphisms in the genes encoding 25-hydroxylase, vitamin D binding protein, 7-dehydrocholesterol reductase, and 24-hydroxylase. Associations of genetic status, season, local solar radiation, oral vitamin D supplementation, and disease-associated factors with vitamin D status were assessed. Two thirds of patients were vitamin D deficient (25-hydroxy-vitamin D &l...
FAS and FASL polymorphisms are suggested to play an important role in tubulitis that is a major c... more FAS and FASL polymorphisms are suggested to play an important role in tubulitis that is a major component of acute rejection. The aim of this study was to investigate the role of FAS-670A/G and FASL-843C/T gene polymorphisms on allograft nephropathy in pediatric renal transplant patients Fifty three patients (22 males 31 females) aged 2 to 20 years (mean 12.3±0.6) who had renal transplantation and fifty healthy control subjects (25 males 25 females) were enrolled in the study. Pearson's Chi Square test was used for the statistical analysis. Survival rates were estimated with the Kaplan Meier method. Age, sex, chronic renal failure etiology, treatment modality and duration and donor type were recorded. FAS-670A/G and FASL-843C/T gene polymorphisms were compared between renal transplant patients and normal healthy population as well as between renal transplant patients with and without acute rejection. FAS-670A/G genotypes or alleles were not significantly different between contro...
Membranoproliferative glomerulonephritis (MPGN) is characterized by proliferation of mesangial an... more Membranoproliferative glomerulonephritis (MPGN) is characterized by proliferation of mesangial and endothelial cells and by thickening of the peripheral capillary walls. Type II of the MPGN is associated with complement abnormalities which are factor H deficiencies due to mutations in the complement factor H (CFH) gene. We report a 15-year-old boy diagnosed with MPGN II in whom genetic analyses of the CFH gene revealed that the patient was heterozygote for a polymorphism in exon 2 of the CFH (c.184G>A), heterozygote for a polymorphism in exon 9 of the CFH (c.1204C>T), and heterozygote for a polymorphism in exon 10 of the CFH (c.1419G>A). These data recapitulate a prototypical complement genetic profile, the presence of major risk factors for MPGN II, which support the hypothesis that these dense deposit diseases have a common pathogenic mechanism involving dysregulation of the alternative pathway of complement activation.
The complement system is of great importance in systemic lupus erythematosus. Complete geneticall... more The complement system is of great importance in systemic lupus erythematosus. Complete genetically determined deficiencies are with few exceptions reported for the various complement proteins, and most of the deficiency states are rare. Deficiencies of the factors in the classical pathway are also associated with development SLE and SLE-like disorders. Most of the patients with lupus present skin involvement. Approximately, 75–95% of patients with cutaneous lupus erythematosus respond to antimalarial therapy and/or topical glucocorticosteroids. Immunosuppressive agents are usually considered a second-line approach in patients with resistant disease. In this study, we present the clinical features and determine the molecular basis responsible for the complete C4A and C4B deficiencies in a lupus patient presented subacute cutaneous lupus erythematosus and resistance to treatment.
Journal of the Renin-Angiotensin-Aldosterone System, 2005
Background. The renin-angiotensin system (RAS) has been considered to be responsible for the path... more Background. The renin-angiotensin system (RAS) has been considered to be responsible for the pathogenesis or progression of many diseases which may or may not be related to kidney. Genetic polymorphisms of the various components of the RAS have been associated with differences in the clinical course of several disease states in adults and children.Objectives. The purpose of our study was to investigate RAS gene polymorphisms in patients with steroid resistant primary focal segmental glomerulosclerosis (FSGS) and nephrotic syndrome responding to steroid therapy. Furthermore, we aimed to investigate whether there was an association between polymorphic alleles and responses to steroid therapy, the degree of renal dysfunction, and prevalence of end-stage renal disease (ESRD).Material and methods. One hundred and fifty-eight children with the diagnosis of nephrotic syndrome were recruited from the Nephrology unit in the Department of Paediatrics of Ege University. Forty-nine of them were...
Son zamanlarda adelosan yasta hipertansiyon gorulme sikligi artmaktadir. Bu artis obezite sikligi... more Son zamanlarda adelosan yasta hipertansiyon gorulme sikligi artmaktadir. Bu artis obezite sikliginda artis ile paralellik gostermektedir. Adelosan yas grubunda hipertansiyonun ana nedeni esansiyel hipertansiyondur. Ancak hipertansiyonun diger nadir nedenlerinin esansiyel hipertansiyon teshisi oncesinde ayirici tanisi yapilmalidir. Bobrek kitleleri cocuklarda sik gorulmeyen iyi veya kotu huylu olusumlardir. Bobrek kitleleri cocukluk caginda hipertansiyonun nadir nedenidir. Anjiyomiyolipom (AML), cocukluk caginda nadir bobrek mezenkimal tumorlerinden biridir. AML genellikle tubero skleroz (TS) ile bir arada olup TS klinik olarak on plandadir. Burada TSnin eslik etmedigi malign HT olarak ortaya cikan bir AML olgusunu sunduk. Adelosan donemde malign hipertansiyon nedeni olarak bobrek anjiyomiyolipomu olabilecegi unutulmamalidir.
Background Uraemic cardiac remodelling is associated with vitamin D and Klotho deficiency, elevat... more Background Uraemic cardiac remodelling is associated with vitamin D and Klotho deficiency, elevated fibroblast growth factor 23 (FGF23) and activation of the renin–angiotensin system (RAS). The cardioprotective properties of active vitamin D analogues in this setting are unclear. Methods In rats with 5/6 nephrectomy (5/6Nx) treated with calcitriol, the cardiac phenotype and local RAS activation were investigated compared with controls. A nested case–control study was performed within the Cardiovascular Comorbidity in Children with Chronic Kidney Disease (4C) study, including children with chronic kidney disease (CKD) Stages 3–5 [estimated glomerular filtration rate (eGFR) 25 mL/min/1.73 m2] treated with and without active vitamin D. Echocardiograms, plasma FGF23 and soluble Klotho (sKlotho) were assessed at baseline and after 9 months. Results In rats with 5/6Nx, left ventricular (LV) hypertrophy, LV fibrosis and upregulated cardiac RAS were dose-dependently attenuated by calcitriol...
Clinical journal of the American Society of Nephrology : CJASN, Jul 16, 2016
Vitamin D deficiency is endemic in children with CKD. We sought to investigate the association of... more Vitamin D deficiency is endemic in children with CKD. We sought to investigate the association of genetic disposition, environmental factors, vitamin D supplementation, and renal function on vitamin D status in children with CKD. Serum 25-hydroxy-vitamin D, 1,25-dihydroxy-vitamin D, and 24,25-dihydroxy-vitamin D concentrations were measured cross-sectionally in 500 children from 12 European countries with CKD stages 3-5. All patients were participants of the Cardiovascular Comorbidity in Children with Chronic Kidney Disease Study, had CKD stage 3-5, and were age 6-18 years old. Patients were genotyped for single-nucleotide polymorphisms in the genes encoding 25-hydroxylase, vitamin D binding protein, 7-dehydrocholesterol reductase, and 24-hydroxylase. Associations of genetic status, season, local solar radiation, oral vitamin D supplementation, and disease-associated factors with vitamin D status were assessed. Two thirds of patients were vitamin D deficient (25-hydroxy-vitamin D &l...
FAS and FASL polymorphisms are suggested to play an important role in tubulitis that is a major c... more FAS and FASL polymorphisms are suggested to play an important role in tubulitis that is a major component of acute rejection. The aim of this study was to investigate the role of FAS-670A/G and FASL-843C/T gene polymorphisms on allograft nephropathy in pediatric renal transplant patients Fifty three patients (22 males 31 females) aged 2 to 20 years (mean 12.3±0.6) who had renal transplantation and fifty healthy control subjects (25 males 25 females) were enrolled in the study. Pearson's Chi Square test was used for the statistical analysis. Survival rates were estimated with the Kaplan Meier method. Age, sex, chronic renal failure etiology, treatment modality and duration and donor type were recorded. FAS-670A/G and FASL-843C/T gene polymorphisms were compared between renal transplant patients and normal healthy population as well as between renal transplant patients with and without acute rejection. FAS-670A/G genotypes or alleles were not significantly different between contro...
Membranoproliferative glomerulonephritis (MPGN) is characterized by proliferation of mesangial an... more Membranoproliferative glomerulonephritis (MPGN) is characterized by proliferation of mesangial and endothelial cells and by thickening of the peripheral capillary walls. Type II of the MPGN is associated with complement abnormalities which are factor H deficiencies due to mutations in the complement factor H (CFH) gene. We report a 15-year-old boy diagnosed with MPGN II in whom genetic analyses of the CFH gene revealed that the patient was heterozygote for a polymorphism in exon 2 of the CFH (c.184G>A), heterozygote for a polymorphism in exon 9 of the CFH (c.1204C>T), and heterozygote for a polymorphism in exon 10 of the CFH (c.1419G>A). These data recapitulate a prototypical complement genetic profile, the presence of major risk factors for MPGN II, which support the hypothesis that these dense deposit diseases have a common pathogenic mechanism involving dysregulation of the alternative pathway of complement activation.
The complement system is of great importance in systemic lupus erythematosus. Complete geneticall... more The complement system is of great importance in systemic lupus erythematosus. Complete genetically determined deficiencies are with few exceptions reported for the various complement proteins, and most of the deficiency states are rare. Deficiencies of the factors in the classical pathway are also associated with development SLE and SLE-like disorders. Most of the patients with lupus present skin involvement. Approximately, 75–95% of patients with cutaneous lupus erythematosus respond to antimalarial therapy and/or topical glucocorticosteroids. Immunosuppressive agents are usually considered a second-line approach in patients with resistant disease. In this study, we present the clinical features and determine the molecular basis responsible for the complete C4A and C4B deficiencies in a lupus patient presented subacute cutaneous lupus erythematosus and resistance to treatment.
Journal of the Renin-Angiotensin-Aldosterone System, 2005
Background. The renin-angiotensin system (RAS) has been considered to be responsible for the path... more Background. The renin-angiotensin system (RAS) has been considered to be responsible for the pathogenesis or progression of many diseases which may or may not be related to kidney. Genetic polymorphisms of the various components of the RAS have been associated with differences in the clinical course of several disease states in adults and children.Objectives. The purpose of our study was to investigate RAS gene polymorphisms in patients with steroid resistant primary focal segmental glomerulosclerosis (FSGS) and nephrotic syndrome responding to steroid therapy. Furthermore, we aimed to investigate whether there was an association between polymorphic alleles and responses to steroid therapy, the degree of renal dysfunction, and prevalence of end-stage renal disease (ESRD).Material and methods. One hundred and fifty-eight children with the diagnosis of nephrotic syndrome were recruited from the Nephrology unit in the Department of Paediatrics of Ege University. Forty-nine of them were...
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