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1.
Nefrologia (Engl Ed) ; 42(4): 471-480, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36460432

RESUMO

BACKGROUND AND OBJECTIVE: Fluid overload is an important factor of morbidity and mortality in hemodialysis patients. Today correct determination of dry weight (DW) remains an important issue of hemodialysis practice. Within this context, it is subjected to new method searching. The objective of this study was to calculate estimated pulmonary capillary wedge pressure (ePCWP) with Tissue Doppler Imaging (TDI) in hemodialysis patients and to evaluate its correlation with the other volume markers and to evaluate whether it can be a new method for detection of DW. MATERIALS AND METHODS: Echocardiographic, hemodynamic, and biochemical volume markers of 41 hemodialysis patients were evaluated in the pre- and post-dialysis periods. Patients were divided into two groups based on ePCWP values (Group 1 ePCWP<20mmHg, Group 2 ePCWP>20mmHg). RESULTS: In the pre-dialysis period; parameters related to volume load including ePCWP, systolic blood pressure, mean arterial pressure, pulse pressure, left atrial diameter, left atrial volume, E/é, ratio and E/Vp ratio were statistically significantly higher in Group2 compared to Group1. On the other hand, strong correlations were found between pre-dialysis ePCWP and systolic blood pressure, mean arterial pressure, pulse pressure, NT-ProBNP, left atrial diameter, E/é ratio and E/Vp ratio. CONCLUSIONS: Strong correlations found between ePCWP which was calculated with TDI and the other volume markers both in pre-dialysis and post-dialysis periods. These findings can provide a significant contribution to routine evaluating of DW in hemodialysis patients. From this aspect, the prediction of ePCWP with TDI can be a new practical and reproducible method for the determination of DW.


Assuntos
Diálise Renal , Ultrassonografia Doppler , Humanos , Pressão Propulsora Pulmonar , Peso Corporal , Pressão Sanguínea
2.
Nefrología (Madrid) ; 42(4): 471-480, Julio - Agosto 2022. ilus, tab
Artigo em Inglês | IBECS | ID: ibc-205788

RESUMO

Background and objective: Fluid overload is an important factor of morbidity and mortality in hemodialysis patients. Today correct determination of dry weight (DW) remains an important issue of hemodialysis practice. Within this context, it is subjected to new method searching. The objective of this study was to calculate estimated pulmonary capillary wedge pressure (ePCWP) with Tissue Doppler Imaging (TDI) in hemodialysis patients and to evaluate its correlation with the other volume markers and to evaluate whether it can be a new method for detection of DW.Materials and methodsEchocardiographic, hemodynamic, and biochemical volume markers of 41 hemodialysis patients were evaluated in the pre- and post-dialysis periods. Patients were divided into two groups based on ePCWP values (Group 1 ePCWP<20mmHg, Group 2 ePCWP>20mmHg).ResultsIn the pre-dialysis period; parameters related to volume load including ePCWP, systolic blood pressure, mean arterial pressure, pulse pressure, left atrial diameter, left atrial volume, E/é, ratio and E/Vp ratio were statistically significantly higher in Group2 compared to Group1. On the other hand, strong correlations were found between pre-dialysis ePCWP and systolic blood pressure, mean arterial pressure, pulse pressure, NT-ProBNP, left atrial diameter, E/é ratio and E/Vp ratio.ConclusionsStrong correlations found between ePCWP which was calculated with TDI and the other volume markers both in pre-dialysis and post-dialysis periods. These findings can provide a significant contribution to routine evaluating of DW in hemodialysis patients. From this aspect, the prediction of ePCWP with TDI can be a new practical and reproducible method for the determination of DW. (AU)


Antecedentes y objetivo: La hipervolemia es un factor importante de morbimortalidad en pacientes en hemodiálisis. Actualmente, la determinación correcta del peso seco (PS) sigue siendo un aspecto importante en la práctica de la hemodiálisis. Por este motivo se siguen buscando nuevos métodos. El objetivo de este estudio fue calcular la presión capilar pulmonar (PCPe) mediante ecografía Doppler tisular (EDT) en pacientes en hemodiálisis, con el fin de evaluar su correlación con los demás marcadores de volumen y valorar si podría ser un nuevo método para la determinación del PS.Materiales y métodosSe evaluaron los marcadores de volumen ecocardiográficos, hemodinámicos y bioquímicos de 41 pacientes en hemodiálisis en los periodos previos y posteriores a la diálisis. Los pacientes se dividieron en 2 grupos en función de los valores de PCPe (PCPe del grupo 1<20mmHg, PCPe del grupo 2>0mmHg).ResultadosEn el periodo previo a la diálisis, los parámetros relacionados con la carga de volumen, como la PCPe, la presión arterial sistólica, la presión arterial media, la presión diferencial, el diámetro auricular izquierdo, el volumen auricular izquierdo y los cocientes E/é y E/Vp fueron superiores de forma estadísticamente significativa en el grupo 2 en comparación con el grupo 1. Por otro lado, se observaron correlaciones importantes entre la PCPe previa a la diálisis y la presión arterial sistólica, la presión arterial media, la presión diferencial, el NT-proBNP, el diámetro auricular izquierdo y los cocientes E/é y E/Vp.ConclusionesSe observaron correlaciones importantes entre la PCPe calculada mediante EDT y los demás marcadores de volumen, tanto en el periodo previo a la diálisis como en el posterior. Estos resultados pueden representar una contribución significativa a la evaluación ordinaria del PS en pacientes en hemodiálisis. ...(AU)


Assuntos
Humanos , Ultrassonografia Doppler , Ecocardiografia , Diálise Renal , Análise Serial de Tecidos
3.
Int Urol Nephrol ; 54(9): 2285-2294, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-35107695

RESUMO

BACKGROUND: Although several renal biopsy registry reports have been published worldwide, there are no data on primary glomerular disease trends in Turkey. METHODS: Three thousand eight-hundred fifty-eight native kidney biopsy records were assessed in the Turkish Society of Nephrology Primary Glomerulopathy Working Group (TSN-GOLD) Registry. Secondary disease and transplant biopsies were not recorded in the registry. These records were divided into four periods, before 2009, 2009 to 2013, 2013-2017, and 2017-current. RESULTS: A total of 3858 patients (43.6% female, 6.8% elderly) were examined. Nephrotic syndrome was the most common biopsy indication in all periods (58.6%, 53%, 44.1%, 51.6%, respectively). In the whole cohort, IgA nephropathy (IgAN) (25.7%) was the most common PGN with male predominance (62.7%), and IgAN frequency steadily increased through the periods (× 2 = 198, p < 0.001). MGN was the most common nephropathy in the elderly (> 65 years), and there was no trend in this age group. An increasing trend was seen in the frequency of overweight patients (× 2 = 37, p < 0.0001). Although the biopsy rate performed with interventional radiology gradually increased, the mean glomeruli count in the samples did not change over the periods. CONCLUSIONS: In Turkey, IgAN is the most common primary glomerulonephritis, and the frequency of this is increasing.


Assuntos
Glomerulonefrite por IGA , Glomerulonefrite , Doenças Ureterais , Doenças Vasculares , Idoso , Biópsia , Feminino , Glomerulonefrite/epidemiologia , Glomerulonefrite/patologia , Glomerulonefrite por IGA/patologia , Humanos , Rim/patologia , Masculino , Sistema de Registros , Estudos Retrospectivos , Turquia/epidemiologia
4.
BMC Nephrol ; 22(1): 352, 2021 10 28.
Artigo em Inglês | MEDLINE | ID: mdl-34711174

RESUMO

BACKGROUND: Galactose-deficient IgA1 (Gd-IgA1) has an increased tendency to form immunocomplexes with IgG in the serum, contributing to IgAN pathogenesis by accumulating in the glomerular mesangium. Several studies showed that glomerular IgG deposition in IgAN is an important cause of mesangial proliferation and glomerular damage. This study aims to determine the association of the positivity of IgG and the intensity of IgG staining with a poor renal prognosis. METHODS: A total of 943 IgAN patients were included in the study. Glomerular IgG staining negative and positive patients were compared using Oxford classification scores, histopathological evaluations, proteinuria, eGFR, albumin, blood pressures. IgG positive patients were classified as (+), (++), (+++) based on their staining intensity, and the association with the prognostic criteria was also evaluated. RESULTS: 81% (n = 764) of the patients were detected as IgG negative, while 19% (n = 179) were positive. Age, gender, body mass index, blood pressure, proteinuria, eGFR, uric acid values were similar in IgG positive and negative patients who underwent biopsy (p > 0.05). Intensity of glomerular IgG positivity was not found to be associated with diastolic and systolic blood pressure, urea, uric acid, age, eGFR, albumin, proteinuria (p > 0.05 for all, r = - 0.084, r = - 0.102, r = - 0.006, r = 0.062, r = 0.014, r = - 0.044, r = - 0.061, r = - 0.066, r = 0.150, respectively). There was no difference for histopathological findings between IgG (+), IgG (++), IgG (+++) groups (for all, p > 0.05). CONCLUSION: Glomerular IgG negativity and positivity detected by routine IFM in IgAN patients is not associated with poor renal prognostic risk factors.


Assuntos
Glomerulonefrite por IGA/patologia , Imunoglobulina G/análise , Glomérulos Renais/química , Adulto , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Retrospectivos , Coloração e Rotulagem
5.
Nefrologia (Engl Ed) ; 2021 Sep 20.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-34556354

RESUMO

BACKGROUND AND OBJECTIVE: Fluid overload is an important factor of morbidity and mortality in hemodialysis patients. Today correct determination of dry weight (DW) remains an important issue of hemodialysis practice. Within this context, it is subjected to new method searching. The objective of this study was to calculate estimated pulmonary capillary wedge pressure (ePCWP) with Tissue Doppler Imaging (TDI) in hemodialysis patients and to evaluate its correlation with the other volume markers and to evaluate whether it can be a new method for detection of DW. MATERIALS AND METHODS: Echocardiographic, hemodynamic, and biochemical volume markers of 41 hemodialysis patients were evaluated in the pre- and post-dialysis periods. Patients were divided into two groups based on ePCWP values (Group 1 ePCWP<20mmHg, Group 2 ePCWP>20mmHg). RESULTS: In the pre-dialysis period; parameters related to volume load including ePCWP, systolic blood pressure, mean arterial pressure, pulse pressure, left atrial diameter, left atrial volume, E/é, ratio and E/Vp ratio were statistically significantly higher in Group2 compared to Group1. On the other hand, strong correlations were found between pre-dialysis ePCWP and systolic blood pressure, mean arterial pressure, pulse pressure, NT-ProBNP, left atrial diameter, E/é ratio and E/Vp ratio. CONCLUSIONS: Strong correlations found between ePCWP which was calculated with TDI and the other volume markers both in pre-dialysis and post-dialysis periods. These findings can provide a significant contribution to routine evaluating of DW in hemodialysis patients. From this aspect, the prediction of ePCWP with TDI can be a new practical and reproducible method for the determination of DW.

6.
Int Urol Nephrol ; 53(5): 945-954, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-33155086

RESUMO

PURPOSE: Hematuria is one of the most common laboratory findings in nephrology practice. To date, there is no enough data regarding the clinical and histopathologic characteristics of primary glomerular disease (PGD) patients with hematuria in our country. METHODS: Data were obtained from national multicenter (47 centers) data entered into the Turkish Society of Nephrology Glomerular Diseases (TSN-GOLD) database between May 2009 and June 2019. The data of all PGD patients over the age of 16 years who were diagnosed with renal biopsy and had hematuria data were included in the study. Demographic characteristics, laboratory and biopsy findings were also recorded. RESULTS: Data of 3394 PGD patients were included in the study. While 1699 (50.1%) patients had hematuria, 1695 (49.9%) patients did not have hematuria. Patients with hematuria had statistically higher systolic blood pressure, serum blood urea nitrogen, creatinine, albumin, levels and urine pyuria. However, these patients had statistically lower age, body mass index, presence of hypertension and diabetes, eGFR, 24-h proteinuria, serum total, HDL and LDL cholesterol, and C3 levels when compared with patients without hematuria. Hematuria was present 609 of 1733 patients (35.8%) among the patients presenting with nephrotic syndrome, while it was presented in 1090 of 1661 (64.2%) patients in non-nephrotics (p < 0.001). CONCLUSION: This is the first multicenter national report regarding the demographic and histopathologic data of PGD patients with or without hematuria. Hematuria, a feature of nephritic syndrome, was found at a higher than expected in the PGDs presenting with nephrotic syndrome in our national database.


Assuntos
Hematúria/etiologia , Nefropatias/complicações , Nefropatias/diagnóstico , Glomérulos Renais , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Turquia
7.
BMC Nephrol ; 21(1): 481, 2020 11 14.
Artigo em Inglês | MEDLINE | ID: mdl-33189135

RESUMO

BACKGROUND: The largest data on the epidemiology of primary glomerular diseases (PGDs) are obtained from the databases of countries or centers. Here, we present the extended results of the Primary Glomerular Diseases Study of the Turkish Society of Nephrology Glomerular Diseases (TSN-GOLD) Working Group. METHODS: Data of patients who underwent renal biopsy and received the diagnosis of PGD were recorded in the database prepared for the study. A total of 4399 patients from 47 centers were evaluated between May 2009 and May 2019. The data obtained at the time of kidney biopsy were analyzed. After the exclusion of patients without light microscopy and immunofluorescence microscopy findings, a total of 3875 patients were included in the study. RESULTS: The mean age was 41.5 ± 14.9 years. 1690 patients were female (43.6%) and 2185 (56.3%) were male. Nephrotic syndrome was the most common biopsy indication (51.7%). This was followed by asymptomatic urinary abnormalities (18.3%) and nephritic syndrome (17.8%). The most common PGD was IgA nephropathy (25.7%) followed by membranous nephropathy (25.6%) and focal segmental glomerulosclerosis (21.9%). The mean total number of glomeruli per biopsy was 17 ± 10. The mean baseline systolic blood pressure was 130 ± 20 mmHg and diastolic blood pressure was 81 ± 12 mmHg. The median proteinuria, serum creatinine, estimated GFR, and mean albumin values were 3300 (IQR: 1467-6307) mg/day, 1.0 (IQR: 0.7-1.6) mg/dL, 82.9 (IQR: 47.0-113.0) mL/min and 3.2 ± 0.9 g/dL, respectively. CONCLUSIONS: The distribution of PGDs in Turkey has become similar to that in other European countries. IgA nephropathy diagnosed via renal biopsy has become more prevalent compared to membranous nephropathy.


Assuntos
Glomerulonefrite/epidemiologia , Rim/patologia , Síndrome Nefrótica/epidemiologia , Adulto , Biópsia , Feminino , Glomerulonefrite/sangue , Glomerulonefrite/patologia , Glomerulonefrite por IGA/epidemiologia , Glomerulonefrite Membranosa/epidemiologia , Glomerulosclerose Segmentar e Focal/epidemiologia , Humanos , Glomérulos Renais/patologia , Masculino , Pessoa de Meia-Idade , Síndrome Nefrótica/sangue , Síndrome Nefrótica/patologia , Proteinúria , Turquia/epidemiologia
8.
Eur J Rheumatol ; 5(2): 145-146, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-30185366

RESUMO

Antiphospholipid syndrome (APS) is a disorder characterized by antiphospholipid antibody positivity, arterial or venous thrombosis, and fetal loss. In APS, renal as well as vascular and glomerular involvement is observed. Systemic lupus erythematosus and other connective tissue diseases should be excluded to diagnose primary APS. Immunoglobulin M (IgM) nephropathy is characterized by single or dominant IgM deposition in glomerular mesangium. It often presents with hematuria and proteinuria. In a 45-year-old female patient admitted to our clinic with diabetes mellitus and proteinuria, fundus examination did not reveal diabetic retinopathy but a high anticardiolipin IgM and venous thrombosis in the upper extremity were observed. Renal biopsy revealed IgM nephropathy. The patient was diagnosed with primary APS and IgM nephropathy. Cyclophosphamide and steroid treatment was started. Her proteinuria decreased as a result of the treatment. Although, it is reported in the literature that primary APS coexists with other glomerulonephritis, we did not detect coexistence of primary APS and IgM nephropathy.

9.
J Vasc Access ; 19(3): 303-310, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29544394

RESUMO

PURPOSE: We investigated the influence of the vitamin D receptor gene TaqI (rs731236), ApaI (rs7975232), and FokI (rs2228570) polymorphisms in arteriovenous fistula failure in hemodialysis patients. METHODS: This study was carried out with 54 patients who experienced two or more fistula failures in the late period after arteriovenous fistula operation and 58 control patients with no history of arteriovenous fistula failure in 3 years or longer. The polymerase chain reaction-restriction fragment length polymorphism method was used to determine the vitamin D receptor TaqI, FokI, and ApaI polymorphisms. RESULTS: For vitamin D receptor gene TaqI and Fok1 polymorphisms, no significant association was found between the two groups ( p > 0.05). However, a statistically significant association was determined for ApaI polymorphism between the two groups ( p = 0.02). In patients, ApaI AA, AC, and CC genotype frequencies were found as 21 (38.9%), 32 (59.3%), and 1 (1.8%), respectively. However, genotype frequencies of AA, AC, and CC in the control group were 29 (50%), 22 (37.9%), and 7 (12.1%), respectively. In all three polymorphisms, no significant difference was found between the two groups in terms of allele frequencies ( p > 0.05). CONCLUSION: Vitamin D receptor ApaI AC genotype may be a possible cardiovascular risk factor for the development of arteriovenous fistula failure.


Assuntos
Derivação Arteriovenosa Cirúrgica/efeitos adversos , Polimorfismo Genético , Receptores de Calcitriol/genética , Diálise Renal , Idoso , Estudos de Casos e Controles , Estudos Transversais , Feminino , Frequência do Gene , Estudos de Associação Genética , Heterozigoto , Homozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Falha de Tratamento
10.
Clin Rheumatol ; 36(11): 2589-2594, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28573371

RESUMO

Primary glomerulopathies are those disorders that affect glomerular structure, function, or both in the absence of a multisystem disorder. We aimed to evaluate the frequency of MEFV gene mutation to show possible coexistence of FMF in patients diagnosed with biopsy-proven primary glomerulonephritis (GN). A total of 64 patients with biopsy-proven primary GN were included in the study. MEFV gene mutations examined retrospectively. The mean age of patients was 39.6 ± 13.4 (range 18-69), 35 of patients were female and 29 of patients were male. Of the 64 patients, 17 were mesangial proliferative glomerulonephritis (MsPGN), 15 were IgA nephropathy (IgAN), 12 were membranous glomerulonephritis (MGN), 11 were focal segmental glomerulosclerosis (FSGS), three were membranous proliferative glomerulonephritis (MPGN), three were immune complex glomerulonephritis (ICGN), two were minimal change disease (MCD), and one was IgM nephropathy (IgMN). MEFV gene mutation was detected in 35.9% (23) of these patients. The most frequently detected mutations were E148Q and M694V. Twelve cases (18.75% of GN patients) with MEFV gene mutation were diagnosed as FMF phenotype I. The frequency of MEFV gene mutation was detected at a high rate of 35.9%. Further studies with larger populations are needed to clarify the importance of these mutations on clinical progression of glomerulonephritis.


Assuntos
Glomerulonefrite/genética , Mutação , Pirina/genética , Adolescente , Adulto , Idoso , Biópsia , Análise Mutacional de DNA , Feminino , Frequência do Gene , Glomerulonefrite/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Fenótipo , Estudos Retrospectivos , Adulto Jovem
11.
Case Rep Med ; 2016: 9620520, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27956901

RESUMO

The tumor lysis syndrome (TLS) is a collection of metabolic abnormalities that occur in consequence of the release of intracellular contents following lysis of tumor cells. TLS occurs spontaneously or after chemotherapy. Spontaneous TLS is uncommon occurrence in multiple myeloma (MM). We define a case of a 70-year-old woman patient who was found to have MM with spontaneous TLS, following a compression fracture of the T-12 vertebrae. While serum uric acid and phosphorous levels were high, low calcium levels were identified. There were also acute kidney injury and metabolic acidosis. Upon the diagnosis of TLS, she was treated with hydration, allopurinol, sodium bicarbonate, and calcium gluconate. The improvement of her laboratory data was observed. We submitted this case in order to draw attention to the presentation of MM with spontaneous TLS.

12.
Case Rep Infect Dis ; 2016: 9567495, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27872775

RESUMO

Influenza viruses are members of the Orthomyxoviridae family, of which influenza A, B, and C viruses constitute three separate genera. Arterial thrombosis associated with H1N1 influenza A virus infection has rarely been reported. A Turkish man aged 28 years was admitted to our emergency department with dyspnea, bilateral lower extremity insensitivity, and cold. He reported symptoms of fever, myalgia, and cough, which he had had for fifteen days before being admitted to our hospital. The patient was tested for pandemic influenza A (H1N1) virus using polymerase chain reaction (PCR) tests, which were positive. Abdominal computerized tomography with contrast revealed a large occlusive thrombus within the infrarenal aorta.

13.
J Med Case Rep ; 10: 206, 2016 Jul 27.
Artigo em Inglês | MEDLINE | ID: mdl-27460033

RESUMO

BACKGROUND: Hemolytic uremic syndrome is characterized by acute renal failure, thrombocytopenia, and Coombs-negative hemolytic anemia. In C3 mesangial proliferative glomerulonephritis, an increase in mesangial cell proliferation without thickening in the glomerular capillary wall can be seen under light microscopy, but the definitive diagnosis is made with the immunohistologic demonstration of isolated C3 deposits in the mesangium. C3 glomerulonephritis may be detected in childhood; however, in this case report we describe the first case of isolated C3 glomerulonephritis together with atypical hemolytic uremic syndrome in an adult patient. CASE PRESENTATION: Here we present a case of a 27-year-old white man with anuria who was hospitalized after being diagnosed as having hemolytic uremic syndrome accompanied by acute renal failure. Renal biopsy results revealed C3 glomerulonephritis. There was a complete recovery of renal function after hemodialysis, and prednisolone and plasma exchange treatment. CONCLUSIONS: C3 glomerulopathy is distinct from atypical hemolytic uremic syndrome although both diseases are due to abnormal control of the alternative complement pathway. In atypical hemolytic uremic syndrome activation of complement occurs on glomerular or microvascular endothelium causing a thrombotic microangiopathy; in most cases, no electron-dense deposits are seen on electron microscopy and glomerular C3 is not detected on immunofluorescence.


Assuntos
Síndrome Hemolítico-Urêmica Atípica/complicações , Glomerulonefrite/complicações , Glomerulonefrite/diagnóstico , Adulto , Anti-Inflamatórios/uso terapêutico , Síndrome Hemolítico-Urêmica Atípica/terapia , Proliferação de Células , Diagnóstico Diferencial , Glomerulonefrite/terapia , Humanos , Masculino , Células Mesangiais/patologia , Troca Plasmática , Prednisolona/uso terapêutico , Diálise Renal
14.
Biochem Genet ; 54(4): 448-456, 2016 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-27105876

RESUMO

Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal alpha-galactosidase A (AGALA) activity. FD and familial Mediterranean fever (FMF) have typical clinical similarities, and both diseases may progress to end-stage renal diseases. In this study, we aimed to determine the prevalence of FD in patients with FMF from Central Anatolia of Turkey. The study group consisted of 177 FMF patients, followed up by the Adult and Pediatric Nephrology Clinic of Cumhuriyet University Hospital. Screening for AGALA activity was performed by the dry blood spot method. Mutation analysis for GLA gene was carried out for patients having an AGALA enzyme activity value lower than the normal reference value. Low AGALA activity was detected in 23 (13 %) patients. Heterozygous GLA gene mutation c.[937G>T] p.[D313Y] was detected in one female patient (0.56 %). The patient was a 53-year-old female with proteinuria and who had undergone left nephrectomy; her glomerular filtration rate (GFR) by scintigraphy was found to be 70 ml/min. She had M694V mutation and no clinical manifestation of FD. In our study, the prevalence rate of FD was found as 0.56 % in FMF patients. The similarities between the symptoms of FMF and FD might lead to a diagnostic dilemma in physicians at countries where FMF is observed frequently. Although the prevalence of FD is rare, physicians should keep in mind that FD has an ambiguous symptomology pattern of FMF.


Assuntos
Doença de Fabry/epidemiologia , Febre Familiar do Mediterrâneo/genética , Mutação , alfa-Galactosidase/genética , Análise Mutacional de DNA , Doença de Fabry/genética , Febre Familiar do Mediterrâneo/complicações , Febre Familiar do Mediterrâneo/patologia , Feminino , Humanos , Masculino , Prevalência , Pirina/genética , Turquia/epidemiologia
15.
Eur J Drug Metab Pharmacokinet ; 41(3): 281-6, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25645282

RESUMO

The cytochrome P450 2D6 (CYP2D6) is a cytochrome P450 enzyme involved in the oxidative biotransformation of the xenobiotics, carcinogens and various clinically important drugs. Patients are evaluated in three sub-groups of extensive (EM), intermediate (IM) and poor metabolizer (PM) phenotypes due to their drug-metabolising ability for the target CYP2D6 gene. Colchicine non-responsive FMF patients were prospectively genotyped for the major CYP2D6 alleles in the current study. Major CYP2D6 alleles of *1, *3, *4, *5, and *6 were genotyped for 30 responsive and 60 non-responsive FMF patients by multiplex PCR-based reverse-hybridization StripAssay and real-time PCR methods. DNA banks isolated from blood-EDTA were retrospectively used in the current patients and results were compared statistically. Increased CYP2D6 *4 and *6 allele frequencies were highly detected in the colchicine non-responsive FMF patients when compared to the responsive group. Results showed the frequencies of major CYP2D6 *1(wild), *3(2637A > delA), *4(G1934A), *5(total gene deletion) and *6(1707T del) alleles in 0.550, 0.042, 0.158, 0.025 and 0.225 for non-responder and 0.880 and 0.120 (CYP2D6*1 and *4) for the responder groups, respectively. Despite small sample size, this study suggests that there is an association between CYP2D6*4 and CYP2D6*6 alleles and drug intoxicants in colchicine non-responder FMF patients.


Assuntos
Colchicina/uso terapêutico , Citocromo P-450 CYP2D6/genética , Marcadores Genéticos/genética , Alelos , Biotransformação/genética , Feminino , Frequência do Gene/genética , Genótipo , Humanos , Masculino , Fenótipo , Estudos Prospectivos , Estudos Retrospectivos
16.
Arch Rheumatol ; 31(2): 112-120, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29900931

RESUMO

OBJECTIVES: This study aims to evaluate the carotid intima-media thickness (CIMT) in patients diagnosed with Familial Mediterranean fever (FMF) and investigate whether there is a relationship between glutathione-S-transferase (GST) gene polymorphisms and CIMT. PATIENTS AND METHODS: Sixty FMF patients (17 males, 43 females; mean age: 31.43±11.36 years; range 18 to 45 years) and 60 healthy controls (22 males, 38 females; mean age: 29.8±5.82 years; range 18 to 40 years) were enrolled in this study. Polymerase chain reaction-restriction fragment length polymorphism methods were carried out to assess GST polymorphisms. CIMT was measured by carotid ultrasonography. Biochemical parameters were also evaluated using biochemical methods. RESULTS: Right and left CIMT of FMF patients were statistically significantly higher than that of control group (CIMT right p=0.001 and CIMT left: p=0.033). There was no significant association in terms of GST polymorphisms between FMF and control groups. No significant association was observed between GST polymorphisms and CIMT. Low density lipoprotein, erythrocyte sedimentation rate, and fibrinogen levels were significantly higher in the patient group (p<0.05). The difference between groups was not significant in terms of other biochemical parameters (p>0.05). CONCLUSION: Although no significant association was observed between GST polymorphisms and CIMT in FMF patients and controls, CIMT was statistically significantly higher in FMF patients compared to controls.

17.
Int Urol Nephrol ; 47(3): 551-6, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25655256

RESUMO

OBJECTIVE: Monocyte chemoattractant protein-1 (MCP-1) plays a major role in the pathogenesis and progression of different types of human renal disease. Therefore, in this study, we aimed to investigate the effect of MCP-1 gene -2518 A>G promoter polymorphism in chronic renal failure (CRF) patients requiring long-term hemodialysis. METHODS: The study population consisted of 201 adult CRF patients requiring long-term hemodialysis and 194 healthy controls. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique was used for genotyping of MCP-1 -2518 A>G polymorphism in the CRF patients and healthy controls. RESULTS: There were statistically significant differences in terms of genotypic (χ (2) = 12.69, p = 0.02) and allelic (χ (2) = 5.72, p = 0.02) frequencies of MCP-1 -2518 A>G between CRF patients and control subjects. According to our results, in the patient group MCP-1 -2518 AA genotype frequency was significantly higher than that of control group. On the other hand, heterozygous AG genotype frequency in the control group was significantly higher than that of the study group. Three different main disease subgroups of CRF (hypertension, diabetes mellitus, and atherosclerosis) patients were also evaluated, and significant associations were found between hypertension (genotype: χ (2) = 9.28, p = 0.01; allele: χ (2) = 6.00, p = 0.01), atherosclerosis (genotype: χ (2) = 5.37, p = 0.02; allele: χ (2) = 4.13, p = 0.04), and distributions of MCP-1 -2518 A>G genotypes and alleles. However, no significant association was found between diabetes mellitus and distributions of MCP-1 -2518 A>G genotype and allele frequencies (genotype: χ (2) = 2.37, p = 0.3; allele: χ (2) = 1.88, p = 0.17). CONCLUSION: Current data show that MCP-1 -2518 AA genotype may cause susceptibility to CRF, while G allele may have a protective effect against development of CRF. In addition, MCP-1 -2518 AA genotype seems to associate with CRF originated from hypertension and atherosclerosis in our study population.


Assuntos
Quimiocina CCL2/genética , Predisposição Genética para Doença , Falência Renal Crônica/genética , Falência Renal Crônica/terapia , Adulto , Idoso , Aterosclerose/complicações , Aterosclerose/genética , Estudos de Casos e Controles , Nefropatias Diabéticas/genética , Feminino , Frequência do Gene , Genótipo , Humanos , Hipertensão/complicações , Hipertensão/genética , Falência Renal Crônica/complicações , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , Regiões Promotoras Genéticas , Diálise Renal , Fatores de Tempo , Turquia
18.
Ren Fail ; 37(2): 292-6, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25394530

RESUMO

BACKGROUND AND AIM: There is an increased mortality risk in long-term hemodialysis patients of renal failure due to the chronic inflammation. The relationship between the chronic renal failure (CRF) and the role of familial genetic markers remains incompletely understood. In the current study, it was aimed to find out the prevalence of common MEFV gene mutations and BcII polymorphism in serum amyloid A1 (SAA1) gene in chronic renal patients (CRF) who require long-term hemodialysis. METHOD: Current cohort includes 242 CRF patients and 245 healthy individuals from the same population. Total genomic DNA was isolated from peripheral blood-EDTA samples and genotyping of target MEFV gene was carried out by reverse hybridization Strip Assay and real-time techniques. The SAA1 gene was genotyped by the BclI-RFLP method. RESULTS: Increased mutated MEFV genotypes were found in current CRF patients when compared with the control group from the same ethnicity and the difference was statistically significant (Table 2) (OR: 4.9401, 95% CI: 3.0694-7.9509), p<0.0001. The most frequent point mutations were M694V and E148Q. The mutated T allel frequency in the SAA1 gene was also different when compared with the healthy controls and the difference was found to be statistically significant (χ2: 13.18; p=0.000). CONCLUSIONS: The current results indicate the germ-line mutations in both genetic biomarkers (MEFV and SAA1 genes) that are related to inflammation and amyloidosis processes may play a crucial role in CRF pathogenesis due to the long-term chronic inflammation.


Assuntos
Amiloidose , Proteínas do Citoesqueleto/genética , Inflamação , Falência Renal Crônica , Diálise Renal , Proteína Amiloide A Sérica/genética , Adulto , Idoso , Amiloidose/etiologia , Amiloidose/metabolismo , Feminino , Marcadores Genéticos , Humanos , Inflamação/etiologia , Inflamação/metabolismo , Falência Renal Crônica/genética , Falência Renal Crônica/fisiopatologia , Falência Renal Crônica/terapia , Masculino , Pessoa de Meia-Idade , Mutação , Polimorfismo de Nucleotídeo Único , Pirina , Diálise Renal/efeitos adversos , Diálise Renal/métodos , Tempo , Turquia
19.
Adv Clin Exp Med ; 23(5): 749-55, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25491689

RESUMO

BACKGROUND: Chronic obstructive pulmonary disease (COPD) is characterized by inhaled particles and gases inducing chronic inflammation of the airways accompanied by a not fully reversible airflow limitation. Systemic inflammation has an important role in the pathogenesis of COPD. In parallel, several comorbidites can be observed. Microalbuminuria is related to endothelial dysfunction. Microalbuminuria was increased in exacerbation periods of COPD. OBJECTIVES: The aim of the study was evaluate to the presence of microalbuminuria (MA) in patients with chronic obstructive pulmonary disease (COPD) and its relationship to inflammation, arterial blood gas parameters and 24-hour ambulatory blood pressure alterations. MATERIAL AND METHODS: Seventy COPD patients and 40 healthy volunteers were enrolled in the study. 24-h ambulatory blood pressure monitoring (ABPM) results, including pressure and pulse rates of the subjects were recorded and the cases were classified as "dipper" if a normal fall of more than 10% in blood pressure was observed at night and "non-dipper" if not. Routine renal function tests were performed, C-reactive protein (CRP) values were examined and urine samples were obtained to scrutinize the presence of MA. Patients were allocated into two groups, those with and without MA. The spirometry and arterial blood gas results of the patients were recorded. RESULTS: The urinary albumin creatinin ratio (64.8 ± 91.8), CRP (21 ± 14.8), nocturnal systolic and diastolic blood pressure (118 ± 14 and 72 ± 10), nocturnal and diurnal pulse (87 ± 17 and 90 ± 14), nocturnal pulse pressure (49 ± 11), mean pulse (89 ± 15), mean pulse pressure (48 ± 10) and the number of non-dipper subjects (65) were found significantly higher in the COPD group than in the control group (10.6 ± 6, 5.4 ± 2.4, 105 ± 6 and 68 ± 7, 70 ± 10 and 78 ± 11, 42 ± 1, 75± 11, 42 ± 7 and 5, respectively); (p < 0.001, < 0.001, < 0.001 and 0.041, < 0.001 and < 0.001, < 0.001, < 0.001, < 0.001 and < 0.001, respectively). Nocturnal pulse (89 ± 17) and CRP (23.5 ± 14.8) were found to be significantly higher in COPD patients with MA than in COPD patients without MA (78 ± 8 and 8.8 ± 6.3, respectively); (p = 0.021 and < 0.001, respectively). CONCLUSIONS: The facts that CRP, a systemic inflammation marker, and mean nocturnal pulse pressure values were significantly higher in the group with MA among COPD patients, and that ambulatory blood pressure values did not differ between COPD patients with and without MA, suggest both a possible role of inflammation in MA development in COPD patients and a relationship between MA and increased heart rate.

20.
Int Urol Nephrol ; 46(9): 1815-23, 2014 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-24748065

RESUMO

PURPOSE: Vascular access is vital for hemodialysis patients. A major factor that facilitates arteriovenous (AV) fistula failure is stenosis and thrombosis due to intimal hyperplasia developing in the venous segment of AV fistula. It has been reported that VEGF accelerated re-endothelialization, reduction in intimal thickening, and/or mural thrombus formed in the injured vascular structures. In this study, we aimed to identify the effect of the VEGF 936 gene polymorphism and vascular endothelial growth factor-A (VEGF-A) levels in the late period of AV fistula loss in hemodialysis patients. METHODS: The study was carried out with a patient group of 42 individuals who experienced two or more fistula thrombosis in the late period after the AV fistula operation and also a control group of 38 patients who have not had any AV fistula thrombosis history for 3 years or more. All participants were assessed for VEGF-936C/T gene polymorphism and VEGF-A levels. RESULTS: VEGF-936C/T genotypes were determined in the large proportion in the control group (31.6 %), while VEGF-936C/C genotypes were determined in a large proportion in the patient group (90.5 %). Individuals carrying the VEGF-936C/C genotype had an increased risk of 5.54 for getting AV fistula thrombosis. The VEGF-A levels of patient group (27.3 ± 43.5 pg/ml) were significantly lower than those of the control group (70.7 ± 53.1 pg/ml). CONCLUSION: There is an increased risk of AV fistula thrombosis in individuals carrying the VEGF-936C/C genotype. The other renal replacement modalities should be considered in patients with this genotype. As a result, it will be possible to prevent the morbidity and mortality due to fistula failure.


Assuntos
Derivação Arteriovenosa Cirúrgica/efeitos adversos , Polimorfismo Genético , Diálise Renal , Trombose/etiologia , Fator A de Crescimento do Endotélio Vascular/sangue , Fator A de Crescimento do Endotélio Vascular/genética , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Trombose/genética , Fatores de Tempo
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