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1.
Int Urol Nephrol ; 55(4): 975-982, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-36178610

RESUMO

PURPOSE: In our study, diagnostic and demographic characteristics of patients diagnosed with minimal change disease (MCD) by biopsy, clinical and laboratory findings in our country were investigated. METHODS: Data were obtained from the Turkish Society of Nephrology Glomerular Diseases (TSN-GOLD) Working Group database. Demographic characteristics, indications for biopsy, diagnosis of the glomerular diseases, comorbidities, laboratory and biopsy findings of all patients were recorded. The data presented are cross-sectional and includes application data for the biopsy period. RESULTS: Of 3875 patients, 233 patients with MCD (median age 35.0 years) were included in the study, which constitutes 6.0% of the total glomerulonephritis database. Renal biopsy was performed in 196 (84.1%) patients due to nephrotic syndrome. Median serum creatinine was 0.7 (0.6-1.0) mg/dl, mean eGFR was 104 ± 33 ml/min/1.73 m2 and median proteinuria 6000 mg/day. The number of patients under the age of 40 years was 139 (59.7%) (Group A), and the number of patients aged 40 years and over was 94 (40.3%) (Group B). Compared to Group A, global sclerotic glomeruli (24 vs. 43, p < 0.001) interstitial inflammation (15 vs. 34, p < 0.001), interstitial fibrosis (20 vs. 31, p = 0.001, vascular changes (10 vs. 25, p < 0.001) and tubular atrophy (18 vs. 30, p < 0.001) were found to be significantly higher in Group B. There was no difference in immunofluorescent staining properties between the two groups. CONCLUSION: Our data are generally compatible with the literature. Chronic histopathological changes were more common in patients aged 40 years and older than younger patients. Studies investigating the effects of these different features on renal survival are needed.


Assuntos
Nefropatias , Nefrologia , Nefrose Lipoide , Humanos , Adulto , Pessoa de Meia-Idade , Nefrose Lipoide/diagnóstico , Nefrose Lipoide/epidemiologia , Turquia/epidemiologia , Estudos Transversais , Nefropatias/patologia , Rim/patologia , Demografia , Biópsia , Estudos Retrospectivos
2.
Exp Clin Transplant ; 2022 Jul 22.
Artigo em Inglês | MEDLINE | ID: mdl-35867016

RESUMO

OBJECTIVES: Kidney transplant remains the gold standard for the treatment of end-stage renal disease. Relationships between the presence of non-HLA antibodies, antibodies to AT1R, and cytokine gene polymorphisms with rejection have recently been shown. We sought to determine whether the presence of antibodies to AT1R and cytokine gene polymorphisms affected the development of rejection in pediatric and adult patients, whether a relationship is present between cytokine polymorphism and level of antibodies to AT1R, and whether their presence can be a biomarker pretransplant. MATERIALS AND METHODS: Our study included 100 pediatric and adult kidney transplant patients plus 50 healthy controls. Levels of AT1R antibodies (by enzyme-linked immunosorbent assay) and gene polymorphisms of the cytokines transforming growth factor ß, tumor necrosis factor α, interleukins 6 and 10, and interferon gamma cytokines (by sequence- specific primer-polymerase chain reaction) were studied retrospectively and evaluated with the SPSS statistical program. RESULTS: We found no statistically significant relationship between levels of antibodies to AT1R and gene polymorphisms among the studied cytokines in patients with rejection compared with the healthy controls and patients with uneventful courses posttransplant. However, higher levels of antibodies to AT1R were observed in pediatric compared with adult transplant recipients (P < .001). A statistically significant relationship was also observed between transforming growth factor ß1 C/C G/C low-release and interleukin 6 G/C high-release gene polymorphism and levels of antibodies to AT1R (P < .001). CONCLUSIONS: Because we observed that some gene polymorphisms among the studied cytokines may affect AT1R antibody levels, future studies are needed to understand the mechanism of the relationship. In addition, studies with larger groups are required to sufficiently confirm that higher antibody levels are present in pediatric versus adult patients.

3.
Exp Clin Transplant ; 18(Suppl 1): 73-77, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-32008501

RESUMO

OBJECTIVES: Kidney transplant offers an improved quality of life and prolonged survival for patients with end-stage renal disease. This study aimed to compare balance and fall risk between kidney transplant recipients and healthy adults and to determine the relationship between biochemical parameters and fall risk and balance in kidney transplant recipients. As far as we know, this is the first study in the literature that evaluated whether balance changes occur in kidney transplant recipients using the Tetrax Interactive Balance System (Sunlight Medical Ltd., Ramat Gan, Israel). MATERIALS AND METHODS: Our study included 131 kidney transplant recipients (80 male/53 female; mean age of 39 ± 12 y) and 158 healthy volunteers (86 male/69 female; mean age of 40 ± 15 y). Groups were statistically matched in age, male/female patients, and body mass index. Fall index percentages were calculated using the Tetrax posturography device. Risk of falling was compared between kidney transplant recipients and healthy participants. Kidney transplant recipients were divided into 3 groups based on risk of falling. Demographic and clinical characteristics of kidney transplant recipients were recorded, and statistical analyses were performed to analyze these parameters versus balance measurements. RESULTS: Risk of falling was not significantly different between groups according to Tetrax measurements (32.4 ± 23.4 vs 31.6 ± 21.7; P = .08). Serum creatinine levels were significantly higher in kidney transplant recipients with a higher risk of falling (1.17 ± 0.37 vs 1.63 ± 1.18 mg/dL; P = .01). The use of oral antidiabetic drugs was shown to increase the risk of falling (P = .02). CONCLUSIONS: Although patients with end-stage renal disease are thought to have balance impairments, kidney transplant recipients in our study had balance control similar to that shown in the healthy population. Graft function in kidney transplant recipients is important for the balance system.


Assuntos
Acidentes por Quedas/prevenção & controle , Falência Renal Crônica/cirurgia , Transplante de Rim , Equilíbrio Postural , Transtornos de Sensação/etiologia , Adulto , Estudos Transversais , Feminino , Humanos , Falência Renal Crônica/complicações , Falência Renal Crônica/diagnóstico , Falência Renal Crônica/fisiopatologia , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Recuperação de Função Fisiológica , Medição de Risco , Fatores de Risco , Transtornos de Sensação/diagnóstico , Transtornos de Sensação/fisiopatologia , Fatores de Tempo , Resultado do Tratamento
4.
Exp Clin Transplant ; 18(3): 306-312, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-31424358

RESUMO

OBJECTIVES: Urinary tract infections are the most common type of infections in kidney transplant recipients. They are also important factors for increased morbidity and mortality. The aims of this study were to evaluate the number of urinary tract infections, to identify possible donor/receiver-based risk factors, and to evaluate the impact of these infections on graft function. MATERIALS AND METHODS: Medical records of patients who had undergone kidney transplant between 2010 and 2017 were retrospectively analyzed. RESULTS: Our study included 145 patients (49 women [33.8%] and 96 men [66.2%]), with mean age of 35.2 ± 12.4 years. There were 105 episodes of urinary tract infections in 55 of 145 patients (37.9%) during the first year after transplant. Female sex (P = .001), glomerulonephritis as primary kidney disease (P = .04), pretransplant diabetes (P = .05), and presence of ureteral stent (P = .03) were significant risk factors for the development of urinary tract infections. The most frequent pathogens identified were Escherichiacoli and Klebsiella pneumoniae. Mean glomerular filtration rate t 12 months was significantly lower in patients with urinary tract infection than in patients without infection (80 ± 25 vs 68 ± 28 mL/min; P = .006). CONCLUSIONS: In kidney transplant recipients, urinary tract infections are common complications and have negative outcomes on graft function. These infections remain an important disease that requires frequent investigations and new ways of approach for prevention.


Assuntos
Transplante de Rim/efeitos adversos , Infecções Urinárias/microbiologia , Adulto , Feminino , Sobrevivência de Enxerto , Humanos , Masculino , Reinfecção , Estudos Retrospectivos , Medição de Risco , Fatores de Risco , Fatores de Tempo , Resultado do Tratamento , Infecções Urinárias/diagnóstico , Infecções Urinárias/terapia , Adulto Jovem
5.
BMC Nephrol ; 20(1): 466, 2019 12 12.
Artigo em Inglês | MEDLINE | ID: mdl-31830923

RESUMO

BACKGROUND: This study reports findings in subjects who underwent brain imaging for any reason, and examined factors influencing cerebrovascular events (CVEs) in hemodialysis (HD) patients. METHODS: We reviewed the files of patients on HD between January 2015 and January 2018. A total of 432 patients who underwent HD for at least 5 months by the January 2015 and who were older than 18 years were included in the study; 264 had been examined by cerebral computed tomography or magnetic resonance imaging examination within the 3 years. Cerebrovascular pathology was detected in 139 of 264 patients. RESULTS: Of the 139 patients, 65 (24.62%) had ischemic lesions, 25 (9.47%) had hemorrhagic lesions, and 49 (18.56%) had cerebral small vessel disease (CSVD). We compared recorded data and later clinical findings between patients with and those without CVEs. The cause of end-stage renal disease was diabetes in 58.5% of patients with ischemic lesions, 52% in those with hemorrhagic lesions, and 55% in those with CSVD (P < 0.05). Patients with cerebrovascular ischemia were older (P = 0.0001) and had lower serum creatinine (sCr) (P = 0.0001) and higher serum C-reactive protein (CRP) (P = 0.002) levels than normal subjects. Hemorrhagic patients were older (P = 0.003) and had lower sCr (P = 0.003) and serum predialysis potassium (P = 0.003) and parathyroid hormone (PTH) (P = 0.004) levels than normal subjects. Patients with CSVD were older (P < 0.0001) and had lower sCr (P < 0.0001), phosphorus (P < 0.007), and PTH (P < 0.013) and higher CRP (P < 0.002) levels than normal subjects. CONCLUSIONS: HD patients with CVEs are older and typically have diabetes mellitus and lower sCr levels.


Assuntos
Transtornos Cerebrovasculares/diagnóstico por imagem , Transtornos Cerebrovasculares/etiologia , Falência Renal Crônica/diagnóstico por imagem , Falência Renal Crônica/terapia , Diálise Renal/efeitos adversos , Adulto , Idoso , Transtornos Cerebrovasculares/sangue , Feminino , Humanos , Falência Renal Crônica/sangue , Masculino , Pessoa de Meia-Idade , Diálise Renal/tendências , Estudos Retrospectivos
6.
Saudi J Kidney Dis Transpl ; 30(2): 545-548, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31031395

RESUMO

We present a case of a 32-year-old female who had been diagnosed tuberous sclerosis complex (TSC) two years ago. In view of serious hemorrhagic complication risk of the selective embolization, we commenced her on oral rapamycin therapy for regression of angiomyolipomas (AMLs). On the 1st year of rapamycin treatment, bilateral renal AMLs were regressed and bilateral selective embolization of the AML was performed after the 1st year of treatment. Rapamycin therapy may regress renal lesions in TSC disease. Therefore, it may increase surgical intervention.


Assuntos
Angiomiolipoma/tratamento farmacológico , Antibióticos Antineoplásicos/uso terapêutico , Neoplasias Renais/tratamento farmacológico , Sirolimo/uso terapêutico , Esclerose Tuberosa/tratamento farmacológico , Administração Oral , Adulto , Angiomiolipoma/complicações , Antibióticos Antineoplásicos/administração & dosagem , Feminino , Humanos , Neoplasias Renais/complicações , Sirolimo/administração & dosagem , Esclerose Tuberosa/complicações
7.
Physiother Can ; 71(1): 77-81, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30787502

RESUMO

Purpose: We evaluated the prevalence of fibromyalgia syndrome (FMS) in peritoneal dialysis (PD) patients and whether this syndrome is associated with gender, age, duration of PD, or other laboratory parameters. Methods: A total of 60 chronic PD patients (26 women, 34 men) and 60 healthy controls (30 women, 30 men) were included. We recorded each participant's age, gender, cause of kidney failure, PD duration, laboratory parameters, education level, and symptoms related to FMS, diagnosed according to the 2010 American College of Rheumatology criteria. Results: Eleven patients (18%) in the PD group and nine (15%) in the control group met the diagnostic criteria for FMS. There were no statistically significant differences in age; gender; education level; PD duration; laboratory parameters; or sleepdisturbance, fatigue, or cognitive symptoms between the FMS and non-FMS groups among the PD patients. We next compared control and PD patients with FMS. Both groups were of a similar age and gender and had similar sleep disturbance and cognitive symptoms, but more patients had fatigue in the control group. Conclusions: The prevalence of FMS among PD patients was similar to that in the general population, and FMS was not associated with gender, age, duration of PD, or other laboratory parameters.


Objectif : les chercheurs ont évalué la prévalence du syndrome de fibromyalgie (SFM) chez les patients sous dialyse péritonéale (DP) et de son association avec le sexe, l'âge, la durée de la DP ou d'autres paramètres de laboratoire. Méthodologie : au total, 60 patients sous DP chronique (26 femmes et 34 hommes) et 60 sujets témoins en santé (30 femmes et 30 femmes) ont participé à l'étude. Les chercheurs ont consigné l'âge, le sexe, la cause de l'insuffisance rénale, la durée de la DP, les paramètres de laboratoire, le niveau de scolarité et les symptômes de chaque participant, liés au SFM diagnostiqués conformément aux critères de l'American College of Rheumatology établis en 2010. Résultats : onze patients (18 %) du groupe sous DP et neuf (15 %) du groupe témoin respectaient les critères diagnostiques de SFM. Ils ne présentaient pas de différence statistiquement significative sur le plan de l'âge, du genre, du niveau de scolarité, de la durée de la DP, des paramètres de laboratoire, des perturbations du sommeil, de la fatigue ou des symptômes cognitifs entre les groupes sous DP ayant un SFM et ceux n'en ayant pas. Les chercheurs ont ensuite comparé les sujets témoins et les patients sous DP ayant un SFM. Les deux groupes étaient d'âge et de sexe semblables et présentaient des perturbations du sommeil et des symptômes cognitifs analogues, mais plus de patients témoins ressentaient de la fatigue dans le groupe témoin. Conclusion : la prévalence de SFM chez les patients sous DP était semblable à celle de la population générale, et la SMF ne s'associait ni au sexe, ni à l'âge, ni à la durée de la DP ni à d'autres paramètres de laboratoire.

8.
Hemodial Int ; 23(3): E78-E82, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-30762283

RESUMO

INTRODUCTION: Hepatitis C virus (HCV) infection is associated with increased mortality and morbidity in kidney transplant patients. The ability to establish a sustained viral response before renal transplant is important for these patients. Direct-acting antiviral agents can increase the sustained viral response in most patients with HCV infection. In this case series, we aimed to determine the efficacy and safety of a combined therapy of ombitasvir, paritaprevir, ritonavir, and dasabuvir with or without ribavirin in patients with HCV genotype 1 infection without cirrhosis and on hemodialysis who were awaiting deceased-donor kidney transplant. METHODS: Our study included eight male and two female HCV ribonucleic acid (RNA)-positive hemodialysis patients (mean age 50.7 ± 15 years, mean hemodialysis duration 14 ± 5.5 years, mean HCV duration 18 ± 3.7 years). FINDINGS: Three patients with genotype 1a received oral therapy with 12.5 mg ombitasvir, 150 mg paritaprevir, 7 5 mg ritonavir, and 250 mg dasabuvir plus 200 mg ribavirin for 12 weeks. Seven patients with genotype 1b received 12.5 mg ombitasvir, 150 mg paritaprevir, 75 mg ritonavir, and 250 mg dasabuvir without ribavirin treatment for 12 weeks. The sustained virologic response rate was 100% at 12 weeks after completion of antiviral treatment in both treatment groups. No serious adverse effects were observed in either treatment group. Five patients had constitutional symptoms such as nausea, anorexia, and fatigue. During the treatment period, hemoglobin, white cell blood count, thrombocyte, and ferritin levels were similar to pretreatment levels. Treatment did not affect weekly erythropoietin and monthly intravenous iron treatment doses. DISCUSSION: Direct-acting antiviral agents are safe and effective for generating a sustained viral response in HCV genotype 1-infected hemodialysis patients on kidney wait lists.


Assuntos
Antivirais/uso terapêutico , Hepacivirus/patogenicidade , Hepatite C Crônica/tratamento farmacológico , Diálise Renal/efeitos adversos , Idoso , Antivirais/farmacologia , Feminino , Hepatite C Crônica/etiologia , Humanos , Masculino , Pessoa de Meia-Idade , Diálise Renal/métodos , Estudos Retrospectivos , Listas de Espera
9.
J Back Musculoskelet Rehabil ; 32(2): 253-259, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30248027

RESUMO

BACKGROUND: Vestibular, neurological and musculoskeletal functions are affected in patients with renal failure. These problems can in turn affect the balance system in peritoneal dialysis (PD) patients. Previously, postural balance changes were shown in hemodialysis patients. This is the first study that evaluates whether there are similar changes in patients with PD. OBJECTIVE: This study aimed to compare balance and fall risk between patients undergoing PD treatment and healthy subjects, and aimed to determine the correlation between biochemical parameters and fall risk and balance assessments in PD patients. METHODS: This controlled study included 58 patients receiving PD treatment (PD Group) and 75 healthy subjects (Control Group). The Berg Balance Scale (BBS) and Tetrax® Interactive Balance System were used for the comparison of balance between groups. For patients in the PD Group, duration of PD, blood pressure, Kt/Vurea (actual mass of urea removed via peritoneal dialysis), and serum biochemical parameters were recorded and correlation analysis was performed between these parameters and balance measurements. RESULTS: There were no statistically significant differences between groups in terms of demographics or BBS scores (p> 0.05). The fall risk of patients in the PD Group was significantly higher than those in the Control Group (p< 0.0001) according to Tetrax measurements. Female gender, older age, higher BMI, and higher blood glucose levels were negatively correlated with balance parameters of PD patients (r> 0.3). There was no statistically significant correlation between duration of PD, blood pressure, and Kt/Vurea with balance parameters or fall risk. CONCLUSIONS: Balance was impaired in patients undergoing PD in comparison to healthy subjects. Fall risk may be evaluated using the Tetrax® instead of BBS for this population. Serum glucose level, BMI and age appear to affect balance and fall risk. Therefore, optimization of body weight and normalization of serum glucose levels are important factors for improving balance. The duration of PD, blood pressure, and Kt/Vurea do not affect balance system.


Assuntos
Falência Renal Crônica/fisiopatologia , Diálise Peritoneal , Equilíbrio Postural/fisiologia , Acidentes por Quedas , Adulto , Fatores Etários , Glicemia/análise , Índice de Massa Corporal , Estudos de Casos e Controles , Feminino , Humanos , Falência Renal Crônica/terapia , Masculino , Pessoa de Meia-Idade , Risco
10.
Ther Apher Dial ; 23(4): 347-352, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-30421548

RESUMO

Our aim is to investigate the clinical and laboratory findings affecting the mortality of the patients in 3 years follow-up who underwent hemodialysis at our center. In this retrospective, observational cohort study, 432 patients who underwent hemodialysis at our center for at least 5 months were included. The first recorded data and subsequent clinical findings of patients who died and survived were compared. Two hundred and ninety patients survived, 142 patients died. The mean age of the patients who died was higher (63.4 ± 12.3 years, vs. 52 ± 16.1 years, P = 0.0001), 60.5% of them had coronary artery disease (P = 0.0001), 93.7% of them had a heart valve disease. Duration of hemodialysis (survived 57 [21-260] months; died 44 [5-183] months, P = 0.000) was lower in patients who died. Serum potassium level before dialysis (5.1 ± 0.6; 4.9 ± 0.7 mEq/L, P = 0.030), parathyroid hormone (435 [4-3054]; 304 [1-3145] pg/mL, P = 0.0001), albumin (3.9 ± 0.4; 3.8 ± 0.4 mg/dL, P = 0.0001) and Kt/V (1.48 ± 0.3; 1.40 ± 0.3, P = 0.019) levels were lower, C-reactive protein (5[1-208]; 8.7[2-256] mg/L, P = 0.000) levels were higher in patients who died. Logistic regression analysis showed age (OR = 1.1), coronary artery disease (OR = 1.7) and more than one heart valve disease (OR = 2.4) are independent risk factors for mortality. Potassium level before dialysis (OR = 0.60), parathyroid hormone (OR = 0.99), and higher Kt/V (OR = 0.28) were found to be an advantage for survival. Age, coronary artery disease and especially pathology in more than one heart valve are risk factors for mortality. Heart valve problems might develop because of malnutrition and inflammation caused by the chronic renal failure.


Assuntos
Doença da Artéria Coronariana/epidemiologia , Doenças das Valvas Cardíacas/epidemiologia , Falência Renal Crônica , Hormônio Paratireóideo/sangue , Potássio/sangue , Fatores Etários , Idoso , Estudos de Coortes , Comorbidade , Feminino , Humanos , Falência Renal Crônica/sangue , Falência Renal Crônica/diagnóstico , Falência Renal Crônica/mortalidade , Falência Renal Crônica/terapia , Masculino , Pessoa de Meia-Idade , Mortalidade , Diálise Renal/métodos , Diálise Renal/estatística & dados numéricos , Estudos Retrospectivos , Fatores de Risco
11.
Int Urol Nephrol ; 48(10): 1705-11, 2016 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-27497737

RESUMO

BACKGROUND: Patients with end-stage renal disease (ESRD) have increased risk of falls and fall-related complications. Other than aging and factors related to chronic kidney disease, treatment of hemodialysis may also contribute to this increased risk. The aim of this study was to demonstrate the impairment of balance after a session of hemodialysis with a quantitative assessment and reveal an increased fall risk that would possibly be related to treatment of hemodialysis for patients on maintenance hemodialysis. METHODS: Fifty-six patients with ESRD on chronic hemodialysis program and 53 healthy individuals were involved in this study. Fall Index percentages were calculated, and fall risk categories were determined for all patients and healthy controls using Tetrax posturography device (Sunlight Medical Ltd Israel). The patient group was evaluated twice for balance, before and after a routine session of hemodialysis. RESULTS: Fall Index scores of healthy controls were lower than that of ESRD patients (p = 0.001). In the patient group, we found the mean Fall Index to be significantly higher at the post-dialysis assessment compared to the pre-dialysis assessment (p = 0.003). The number of patients with high risk of falling also increased at the post-dialysis assessment yet the difference did not reach significance. Fall Index was correlated with the increase in age only at the pre-dialysis balance measurement (p = 0.038). Patients with better dialysis adequacy had significantly lower Fall Index scores than the others at the pre-dialysis balance measurement (p = 0.004). The difference was not significant at the post-dialysis measurement. CONCLUSIONS: In the current study, we evaluated the balance of ESRD patients before and after a routine session of hemodialysis treatment. This is the first study to investigate the effect of hemodialysis on balance, using an electronic posturographic balance system. We found the Fall Index score to be significantly higher after hemodialysis, indicating a negative effect of hemodialysis on postural stability. As expected, our data showed an increased Fall Index score correlated with the increase in age both in ESRD patients and in healthy controls. However, the correlation with age was not observed for the patient group at the post-dialysis balance measurement. We might conceive that young patients with ESRD are also prone to fall risk after a session of hemodialysis. Methods that provide quantitative assessment for fall risk could be rather beneficial for high-risk populations such as patients on maintenance hemodialysis.


Assuntos
Acidentes por Quedas/prevenção & controle , Falência Renal Crônica , Equilíbrio Postural , Diálise Renal , Adulto , Idoso , Feminino , Humanos , Falência Renal Crônica/fisiopatologia , Falência Renal Crônica/terapia , Masculino , Pessoa de Meia-Idade , Diálise Renal/efeitos adversos , Diálise Renal/métodos , Medição de Risco/métodos
12.
Am J Case Rep ; 17: 315-9, 2016 May 09.
Artigo em Inglês | MEDLINE | ID: mdl-27156739

RESUMO

BACKGROUND: Fabry disease is an X-linked disorder. Due to deficiency of the enzyme a-galactosidase A, neutral glycosphingolipids (primarily globotriaosylceramide) progressively accumulate within lysosomes of cells in various organ systems, resulting in a multi-system disorder, affecting both men and women. Misdiagnosis and delayed diagnosis are common because of the nature of Fabry disease. CASE REPORT: We report a case of Fabry disease with a p.R301X (c.901 C>T) mutation in a 39-year-old man who was being treated for chronic sclerosing glomerulonephritis for 2 years. Family screening tests showed that the proband's mother, sister, and daughter had the same mutation with different phenotypes. Levels of α-galactosidase A were low in the proband and his mother and sister. Cornea verticillata and heart involvement were present in multiple family members. Agalsidase alfa treatment was started in patients where indicated. CONCLUSIONS: Pedigree analysis is still a powerful, readily available tool to identify individuals at risk for genetic diseases and allows earlier detection and management of disease.


Assuntos
Códon sem Sentido , Doença de Fabry/genética , alfa-Galactosidase/genética , Adulto , Glomerulosclerose Segmentar e Focal/etiologia , Humanos , Masculino , Linhagem , Fenótipo
13.
Saudi J Kidney Dis Transpl ; 27(1): 15-22, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-26787561

RESUMO

The aim of this study was to investigate the effects of cinacalcet therapy on anemia parameters, bone mineral metabolism, left ventricular mass index (LVMI) and parathyroid gland volume in hemodialysis (HD) patients with secondary hyperparathyroidism. Twenty-five HD patients (M/F: 11/14, mean age: 45.2±17.9 years, mean HD duration: 96.4±32.7 months) were included in this prospective pilot study. The indication to start calcimimetic therapy was persistent serum levels of parathyroid hormone (PTH)>1000 pg/mL, refractory to intravenous (i.v.) vitamin D and phosphate-binding therapy. The initial and one-year results of adjusted serum calcium (Ca+2), phosphate (P), Ca×P product, PTH, hemoglobin (Hb) and ferritin levels, transferrin saturation index (TSAT), median weekly erythropoietin (EPO) dose, LVMI, and parathyroid volume by parathyroid ultrasonography were determined. There were no differences between pre- and post-treatment levels of serum Ca+2 (P=0.853), P (P=0.447), Ca×P product (P=0.587), PTH (P=0.273), ferritin (P=0.153) and TSAT (P=0.104). After 1 year of calcimimetic therapy, the Hb levels were significantly higher than the initial levels (P=0.048). The weekly dose of EPO decreased with no statistical significance. The dose of cinacalcet was increased from 32.4±12.0 to 60.0±24.4 mg/day (P=0.01). There were no differences between the pre- and post-treatment results regarding weekly vitamin D dose, parenteral iron dose, LVMI and parathyroid volume. The results of our study suggest that cinacalcet therapy might have an additional benefit in the control anemia in HD patients.


Assuntos
Anemia/tratamento farmacológico , Densidade Óssea/efeitos dos fármacos , Cinacalcete/uso terapêutico , Ventrículos do Coração/diagnóstico por imagem , Hiperparatireoidismo Secundário/complicações , Glândulas Paratireoides/diagnóstico por imagem , Diálise Renal , Anemia/etiologia , Anemia/metabolismo , Calcimiméticos/uso terapêutico , Cálcio/metabolismo , Ecocardiografia , Feminino , Seguimentos , Humanos , Hiperparatireoidismo Secundário/metabolismo , Falência Renal Crônica/complicações , Falência Renal Crônica/terapia , Masculino , Pessoa de Meia-Idade , Projetos Piloto , Estudos Prospectivos
14.
Hemodial Int ; 20(1): 106-10, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-26198740

RESUMO

The aim of our study was to evaluate the frequency of fibromyalgia syndrome (FMS) in hemodialysis (HD) patients and to assess whether this syndrome is associated with gender, age, duration of HD, or various laboratory parameters. This study was composed of 221 chronic HD patients (99 females and 122 males), and we recorded each participant's age, gender, causes of kidney failure, HD duration, education level, and symptoms related to FMS, which was diagnosed according to the 2010 American College of Rheumatology criteria. We documented the laboratory parameters for all patients. In addition, patients with FMS filled out the Fibromyalgia Impact Questionnaire. Twenty-two patients met the diagnostic criteria for FMS (9%), and there were no statistically significant differences related to age, gender, or HD duration between FMS and non-FMS groups (P > 0.05). In addition, the education levels were lower in patients diagnosed with FMS (P < 0.05), and there were statistically significant differences related to sleep disturbance, fatigue, and cognitive symptoms between the two groups (P < 0.05) as well. However, their laboratory parameters were similar (P > 0.05). There was a higher prevalence of FMS in HD patients than in the general population. Sleep disturbances, fatigue, education level, and cognitive symptoms were associated with FMS, but there was no correlation between the laboratory parameters and this condition.


Assuntos
Fibromialgia/epidemiologia , Diálise Renal/efeitos adversos , Adulto , Idoso , Feminino , Fibromialgia/etiologia , Humanos , Masculino , Pessoa de Meia-Idade , Inquéritos e Questionários , Turquia
15.
Ren Fail ; 36(2): 217-21, 2014 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-24168712

RESUMO

BACKGROUND: We investigated the associations of Recurrent Ischemic Stroke (RIS) and Hemorrhagic Transformation (HT) with CKD in acute ischemic stroke patients. METHOD: The subjects were 160 patients, divided into two groups: with eGFR <60 mL/min/1.73 m2 (CKD), with eGFR ≥60 mL/min/1.73 m2 (without CKD). RESULTS: Subjects having DM (p = 0.018), CKD (p = 0.025) and treated with ACEI/ARB (p = 0.039) revealed association with RIS. Regression analysis disclosed only CKD (p = 0.04). Carotid artery stenosis (p = 0.030) and serum calcium levels (p = 0.013) showed significant association with HT. CONCLUSION: Our results disclosed that CKD could be a risk factor for RIS. There is no relation between CKD and HT.


Assuntos
Isquemia Encefálica/complicações , Hemorragia Cerebral/etiologia , Insuficiência Renal Crônica/complicações , Acidente Vascular Cerebral/complicações , Adulto , Idoso , Idoso de 80 Anos ou mais , Cálcio/sangue , Estenose das Carótidas/complicações , Hemorragia Cerebral/sangue , Feminino , Taxa de Filtração Glomerular , Humanos , Masculino , Pessoa de Meia-Idade , Recidiva , Insuficiência Renal Crônica/fisiopatologia , Estudos Retrospectivos , Fatores de Risco
16.
Clin Exp Hypertens ; 34(3): 171-5, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-21966945

RESUMO

The aim of this study was to investigate whether inflammatory markers are associated with hypertensive end organ damage or obesity in patients with hypertension. Seventy newly diagnosed essential hypertensive patients (29 men and 41 women aged 49.6 ± 9.5 y) and 25 age-sex-matched normotensive subjects (12 men and 13 women aged 45.8 ± 7.3 y) were asked about their family history of hypertension and smoking habits, and body mass index (BMI) was recorded and blood samples were taken to measure fibrinogen, C-reactive protein (CRP), and homocysteine levels. In hypertensive patients, creatinine clearance, urinary albumin extraction, and left ventricular mass index were determined. Hypertensive patients had significantly higher BMIs and inflammatory markers when compared with normotensive healthy controls. The CRP was positively associated with BMI (P < .05), diastolic blood pressure (P < .05), fibrinogen (P < .01), urinary albumin extraction (P < .01), and left ventricular mass index (P < .05). The BMI and serum fibrinogen level were independently associated with CRP. The effect of inflammation on the development of hypertensive end organ damage may be associated with obesity, so that control of obesity may eliminate the inflammatory state in hypertensive patients and also hypertensive end organ damage.


Assuntos
Hipertensão/sangue , Hipertensão/complicações , Mediadores da Inflamação/sangue , Obesidade/sangue , Obesidade/complicações , Adulto , Idoso , Albuminúria/complicações , Índice de Massa Corporal , Proteína C-Reativa/metabolismo , Estudos de Casos e Controles , Estudos Transversais , Feminino , Fibrinogênio/metabolismo , Homocisteína/sangue , Humanos , Hipertensão/patologia , Hipertensão/urina , Hipertrofia Ventricular Esquerda/complicações , Masculino , Pessoa de Meia-Idade , Obesidade/patologia , Fatores de Risco
17.
Ther Apher Dial ; 15(6): 565-71, 2011 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-22107693

RESUMO

We aimed to compare automated peritoneal dialysis (APD) and continuous ambulatory peritoneal dialysis (CAPD) therapy with regard to patients' excessive daytime sleepiness (EDS) and quality of life (QOL). EDS was assessed with the Epworth Sleepiness Scale (ESS) and QOL with the Medical Outcomes Study 36-Item Short Form (SF-36) health survey. We included 59 patients (CAPD/APD, 30/29; male/female, 33/26; age, 45.3±15.8 years; dialysis duration, 42.0±33.6 months). The CAPD and APD groups were similar with respect to factors that affected sleep quality (age, sex, duration of PD), smoking, alcohol intake, socioeconomic status, body mass index, comorbid disease, and various laboratory parameters. Although one patient (3.3%) treated with CAPD and four patients (13.8%) treated with APD experienced EDS, there was no significant differences in ESS scores between the CAPD and APD patients. There was no difference in the SF-36 total and subscale scores when APD patients were compared with CAPD patients. The independent predictors of ESS were the serum albumin level (ß= -2.04, P<0.01), total SF-36 score (ß= 0.08, P=0.02), social functioning score (ß= -2.47, P=0.01), and role-emotional subscale score (ß= -1.12, P=0.05). The incidence of EDS was slightly higher in APD patients, but it did not negatively affect daily activities or QOL.


Assuntos
Distúrbios do Sono por Sonolência Excessiva/etiologia , Falência Renal Crônica/terapia , Diálise Peritoneal Ambulatorial Contínua/métodos , Diálise Peritoneal/métodos , Atividades Cotidianas , Adulto , Distúrbios do Sono por Sonolência Excessiva/epidemiologia , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Qualidade de Vida , Fatores de Risco , Albumina Sérica/metabolismo
18.
Mikrobiyol Bul ; 45(2): 366-70, 2011 Apr.
Artigo em Turco | MEDLINE | ID: mdl-21644081

RESUMO

Tuberculosis-related chronic granulomatous tubulointerstitial nephritis (GTN) and chronic renal dysfunction as a consequence of GTN is a rarely seen clinical condition, with a few case reports in the literature. In this report, a case with end stage renal failure as an unexpected late extrapulmonary sequela of tuberculosis has been presented. A 60 years old female patient was admitted to hospital with the complaints of fever, malaise and nausea. Her history revealed that she had pulmonary tuberculosis 30 years ago and received antituberculosis therapy for nine months. The laboratory results on admission were as follows: blood urea nitrogen 90 mg/dl, serum creatinine 9 mg/dl, sodium 116 mEq/L, potassium 6.6 mEq/L, albumine 2.9 g/dl, hemoglobin, 8.4 g/dl, white blood cell count 10.800/mm3, C-reactive protein 187 mg/L and erythrocyte sedimentation rate 110 mm/hour. Urinalysis showed 8.1 g/L protein, 10-12 leukocytes, 1-2 erythrocytes, while 24-hours urinalysis yielded proteinuria with 8 ml/minutes creatinine clearance value. Urine and blood cultures of the patient revealed neither bacteria or mycobacteria. PPD skin test was negative. Acid-resistant bacilli (ARB) were not detected in sequential urine samples obtained on three consecutive days. Since sputum samples could not be obtained, diagnostic procedures for sputum were not performed. Abdomen ultrasonography yielded bilateral edema and grade II echogenity in kidneys. Computed tomography of the chest showed bilateral pulmonary nodules, chronic sequela lesions, pleural scarring and calcifications, as well as minimal interstitial infiltrate. Transthoracic lung biopsy showed chronic inflammation and fibrosis, while amyloid was negative. Renal biopsy showed GTN with central caseified necrosis and granulomas, multinuclear giant cells, tubular atrophy and interstitial fibrosis. Amyloid was negative and ARB were not detected in renal biopsy sample. Definitive diagnosis was achieved by the demonstration of Mycobacterium tuberculosis nucleic acid in kidney biopsy by polymerase chain reaction (PCR). Antituberculosis therapy was not initiated since there were no signs of active tuberculosis. The patient became clinically stable following dialysis and was discharged, however, she has been undergoing hemodialysis three times a week. The aim of this case presentation was to emphasize that renal tuberculosis should be considered in the differential diagnosis of patients with end stage renal failure, especially in countries like Turkey where tuberculosis incidence is high.


Assuntos
Falência Renal Crônica/etiologia , Nefrite Intersticial/microbiologia , Tuberculose Pulmonar/complicações , Tuberculose Renal/etiologia , Biópsia , Diagnóstico Diferencial , Feminino , Humanos , Rim/diagnóstico por imagem , Rim/microbiologia , Rim/patologia , Falência Renal Crônica/diagnóstico , Falência Renal Crônica/terapia , Pulmão/diagnóstico por imagem , Pulmão/microbiologia , Pulmão/patologia , Pessoa de Meia-Idade , Nefrite Intersticial/complicações , Nefrite Intersticial/diagnóstico , Radiografia , Diálise Renal , Fatores de Tempo , Tuberculose Pulmonar/tratamento farmacológico , Tuberculose Renal/complicações , Tuberculose Renal/diagnóstico , Ultrassonografia
19.
Ren Fail ; 32(10): 1233-6, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-20954988

RESUMO

Tuberous sclerosis complex (TSC) is an inherited multisystem disorder; it may involve kidney, brain, skin, lungs, and liver. We report a 37-year-old female TSC patient presenting with skin lesions (angiofibromas, molluscum pendulum). Radiologic examination revealed additional brain and renal lesions consisting of tumors, cysts, and angiomyolipomas. Treatment with rapamycin disclosed improvement in skin lesions. The number and volume of angiofibromas and molluscum pendulum reduced progressively in 6 months. During the ninth month of treatment, magnetic resonance imaging was repeated for renal and brain lesions. Imaging results showed reduction in tumor and angiomyolipoma volumes. Oral rapamycin therapy can improve renal, brain, and skin lesions in TSC disease. Therefore, it may be an alternative therapy for TSC patients.


Assuntos
Neoplasias Encefálicas/tratamento farmacológico , Imunossupressores/uso terapêutico , Neoplasias Renais/tratamento farmacológico , Sirolimo/uso terapêutico , Neoplasias Cutâneas/tratamento farmacológico , Esclerose Tuberosa/complicações , Adulto , Angiofibroma/tratamento farmacológico , Angiofibroma/etiologia , Neoplasias Encefálicas/etiologia , Neoplasias Faciais/tratamento farmacológico , Feminino , Humanos , Neoplasias Renais/etiologia , Imageamento por Ressonância Magnética , Neoplasias Cutâneas/etiologia
20.
Ren Fail ; 32(9): 1128-30, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-20863223

RESUMO

Contrast agents are associated with a number of adverse effects, including central nervous system effects. These agents are primarily filtered and excreted by the kidney. Contrast-associated encephalopathy is a rare complication. We report the case of a 55-year-old male on chronic hemodialysis who developed confusion and agitation after receiving ioversol during abdominal angiography. Although hemodialysis was performed his healing took 15 days. Patients with end-stage renal disease may be at an increased risk of adverse effects of contrast agents.


Assuntos
Meios de Contraste/efeitos adversos , Falência Renal Crônica/complicações , Síndromes Neurotóxicas/etiologia , Ácidos Tri-Iodobenzoicos/efeitos adversos , Humanos , Masculino , Pessoa de Meia-Idade
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