RESUMO
BACKGROUND: The efficacy of continuous antibiotic prophylaxis in preventing urinary tract infection (UTI) in infants with grade III, IV, or V vesicoureteral reflux is controversial. METHODS: In this investigator-initiated, randomized, open-label trial performed in 39 European centers, we randomly assigned infants 1 to 5 months of age with grade III, IV, or V vesicoureteral reflux and no previous UTIs to receive continuous antibiotic prophylaxis (prophylaxis group) or no treatment (untreated group) for 24 months. The primary outcome was the occurrence of the first UTI during the trial period. Secondary outcomes included new kidney scarring and the estimated glomerular filtration rate (GFR) at 24 months. RESULTS: A total of 292 participants underwent randomization (146 per group). Approximately 75% of the participants were male; the median age was 3 months, and 235 participants (80.5%) had grade IV or V vesicoureteral reflux. In the intention-to-treat analysis, a first UTI occurred in 31 participants (21.2%) in the prophylaxis group and in 52 participants (35.6%) in the untreated group (hazard ratio, 0.55; 95% confidence interval [CI], 0.35 to 0.86; P = 0.008); the number needed to treat for 2 years to prevent one UTI was 7 children (95% CI, 4 to 29). Among untreated participants, 64.4% had no UTI during the trial. The incidence of new kidney scars and the estimated GFR at 24 months did not differ substantially between the two groups. Pseudomonas species, other non-Escherichia coli organisms, and antibiotic resistance were more common in UTI isolates obtained from participants in the prophylaxis group than in isolates obtained from those in the untreated group. Serious adverse events were similar in the two groups. CONCLUSIONS: In infants with grade III, IV, or V vesicoureteral reflux and no previous UTIs, continuous antibiotic prophylaxis provided a small but significant benefit in preventing a first UTI despite an increased occurrence of non-E. coli organisms and antibiotic resistance. (Funded by the Italian Ministry of Health and others; PREDICT ClinicalTrials.gov number, NCT02021006; EudraCT number, 2013-000309-21.).
Assuntos
Antibacterianos , Antibioticoprofilaxia , Infecções Urinárias , Refluxo Vesicoureteral , Feminino , Humanos , Lactente , Masculino , Antibioticoprofilaxia/efeitos adversos , Antibioticoprofilaxia/métodos , Glomerulonefrite , Análise de Intenção de Tratamento , Refluxo Vesicoureteral/complicações , Refluxo Vesicoureteral/tratamento farmacológico , Antibacterianos/administração & dosagem , Antibacterianos/efeitos adversos , Antibacterianos/uso terapêutico , Infecções Urinárias/etiologia , Infecções Urinárias/microbiologia , Infecções Urinárias/prevenção & controle , Farmacorresistência Bacteriana/efeitos dos fármacosRESUMO
BACKGROUND: This study aims to translate the Pediatric Transplant Rating Instrument (P-TRI) to conduct a validity and reliability study on Turkish children and define a cutoff value of this scale. METHOD: A total of 151 pediatric kidney transplant patients were included in the study. The files of the patients were reviewed by two clinicians, and the scale was filled for inter-rater reliability. One of the clinicians filled the scale again after one month for intra-rater reliability. Glomerular filtration rate (GFR) and creatinine values were used for predictive validity. A GFR below <60 ml/min/1.73 m2 and creatinine up to 3.0 mg/dl was defined as risk factors. RESULTS: Correlation of P-TRI with GFR (r = .252, p = .003) and creatinine (r = -.249, p = .002) was performed, and the internal consistency of the scale items as measured by Cronbach's alpha coefficient was found to be 0.825. When the test was performed again, the intra-class correlation coefficient was found as .922 for intra-rater reliability and as .798 for inter-rater reliability. For both creatinine and GFR, the best cutoff point for the total score was found to be 66.5. CONCLUSIONS: Patients who received P-TRI above 66.5 could be at risk in the post-transplant period. Identification of these patients before transplantation and following these young people more closely will aid in the prevention of serious consequences. The reliability and validity scores are satisfactory for use in transplantation clinics for psychosocial evaluation and compliance in Turkish pediatric renal transplantation patients.
Assuntos
Transplante de Rim , Transplante de Órgãos , Humanos , Criança , Adolescente , Creatinina , Reprodutibilidade dos Testes , Transplante de Órgãos/psicologia , Taxa de Filtração GlomerularRESUMO
BACKGROUND: Literature supports the protective role of mineralocorticoid antagonist (MRA) against the renal injury induced by aldosterone in kidney transplant recipients. However, there is limited data available regarding the safety and efficacy of MRAs in pediatric renal transplant patients. Therefore, we aimed to investigate the effect of long-term eplerenone administration in children with chronic allograft nephropathy (CAN). METHODS: Twenty-six renal transplant children with biopsy-proven CAN, an estimated glomerular filtration rate (eGFR ) > 40 mL/min per 1.73 m2 and with a significant proteinuria were included. Selected patients were randomly divided into two groups as follows; Group 1 (n = 10) patients received 25 mg/day eplerenone and Group 2 (n = 16) patients did not receive eplerenone for 36 months. Patients were examined in the renal transplant outpatient clinic biweekly for the first month and once a month thereafter. The primary outcome of the patients was compared. RESULTS: Mean eGFR stayed stable in group 1 patients, but significantly decreased in group 2 at 36 months (57.53 ± 7.53 vs. 44.94 ± 8.04 mL/min per 1.73 m2 , p = .001). Similarly, spot protein-creatinine ratio was significantly lower in group 1 compared to group 2 patients at 36 months (1.02 ± 7.53 vs. 3.61 ± 0.53, p < .001). Eplerenone associated hyperkalemia was not observed in group 1 patients (4.6 ± 0.2 vs. 4.56 ± 0.3, p = .713). CONCLUSION: The long-term eplerenone administration blunted the chronic allograft nephropathy by maintaining a stable eGFR levels and decreasing urine protein-creatinine ratio. Eplerenone associated hyperkalemia was not observed in our study.
Assuntos
Hiperpotassemia , Espironolactona , Humanos , Criança , Eplerenona/uso terapêutico , Espironolactona/uso terapêutico , Espironolactona/farmacologia , Creatinina , Antagonistas de Receptores de Mineralocorticoides/uso terapêutico , Antagonistas de Receptores de Mineralocorticoides/farmacologia , Taxa de Filtração Glomerular , AloenxertosRESUMO
Nutcracker syndrome related to the left kidney vein compression is a cause of orthostatic proteinuria during childhood. Some studies have shown that the ratios between maximum velocities and anterior-posterior diameters of hilar and aortomesenteric segments of the left kidney vein between upright and supine positions must be more than 4 in order to make a Nutcracker syndrome diagnosis. Our aim was to investigate whether the use of a decrease in aortomesenteric angle between upright and supine positions in the presence of isolated orthostatic proteinuria can be a criterion for the diagnosis of Nutcracker syndrome. Relevant patient information, which included demographic data, clinical examination findings, laboratory data, urinary system ultrasound, and kidney color flow Doppler ultrasound results, were prospectively collected. Thirty-nine pediatric patients with orthostatic proteinuria were included in the study. Left kidney vein compression findings were demonstrated in 31 patients. The ratio of maximum velocities of hilar and aortomesenteric segments of the left kidney vein between upright and supine positions was above 4 in only 7 of our patients. Ratio of aortomesenteric angle between upright and supine positions was significantly decreased for patients with left kidney vein compression findings. Conclusion: The use of a decrease in the ratio of aortomesenteric angle between upright and supine positions in the presence of orthostatic proteinuria, instead of the ratios for maximum velocities and anterior-posterior diameters of hilar and aortomesenteric segments, can be more helpful for the diagnosis of Nutcracker syndrome in the differential diagnosis of orthostatic proteinuria. What is Known: ⢠Proteinuria may be a sign of an impending kidney disease ⢠Nutcracker syndrome is a cause of orthostatic proteinuria. What is New: ⢠Ratio of aortomesenteric angle between upright and supine positions > 0.6 can be used for Nutcracker syndrome diagnosis.
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Síndrome do Quebra-Nozes , Veias Renais , Criança , Humanos , Postura , Proteinúria/diagnóstico , Proteinúria/etiologia , Síndrome do Quebra-Nozes/diagnóstico , Síndrome do Quebra-Nozes/diagnóstico por imagem , Veias Renais/diagnóstico por imagem , UltrassonografiaRESUMO
Familial Mediterranean fever (FMF) is an autoinflammatory disease characterized by recurrent attacks of fever and serositis. Diagnosis is made according to clinical findings and supported by genetic analysis. The most commonly used adult diagnostic criteria are the Tel-Hashomer criteria. Pediatric criteria for FMF diagnosis were described in 2009, but their reliability should be supported by additional reports. In this study, we aimed to compare the pediatric criteria and the Tel-Hashomer and 2019 Eurofever/PRINTO classification criteria using our FMF cohort. A total of 113 patients diagnosed with FMF were included. Demographic features and laboratory findings were retrospectively collected from the patients' files. The patients were evaluated with the Tel-Hashomer, pediatric and Eurofever/PRINTO classification criteria. At least two of five new pediatric criteria were as sensitive (89%) and specific (85%) as the Tel-Hashomer criteria (sensitivity 70%, specificity 96%). We also evaluated the Eurofever/PRINTO classification criteria using our cohort and found a sensitivity of 94% and specificity of 91%. Conclusion: Using pediatric criteria for the diagnosis of FMF in children is a feasible and simple approach that can diagnose the disease based on at least two criteria. Therefore, our study supports the use of pediatric criteria in FMF diagnosis of children. Our results also confirm that the Eurofever/PRINTO classification criteria can be successfully applied for the diagnosis of FMF due to their high sensitivity (94%) and specificity (91%). What is Known: ⢠The FMF diagnosis is made according clinical findings and supported by genetic analysis. ⢠The use of adult diagnostic criteria in pediatric FMF patients is controversial since classical clinical presentation is often absent in children. What is New: ⢠Our study supports both the use of pediatric criteria and Eurofever/PRINTO classification criteria in clinical practice.
Assuntos
Febre Familiar do Mediterrâneo , Criança , Estudos de Coortes , Febre Familiar do Mediterrâneo/diagnóstico , Febre Familiar do Mediterrâneo/genética , Febre , Humanos , Reprodutibilidade dos Testes , Estudos RetrospectivosRESUMO
aHUS is caused by the over-activation and dysregulation of the alternative complement pathway. Data regarding outcomes of pediatric aHUS patients after kidney transplantation are still very scarce. Accordingly, the aim of this study was to describe the clinical findings and outcomes of pediatric aHUS patients after renal transplantation. This is a retrospective, multicenter study including 12 patients from the national registry system. Among the 12 patients, eight had received prophylactic eculizumab and none of those patients (except one) had experienced aHUS recurrence during a median follow-up period of 58.5 (min-max, 4-94) months. Although eculizumab had been started on the day before transplantation in one of them, aHUS recurrence occurred during the transplantation procedure. Eculizumab had been stopped in only one patient who had no complement gene mutation after 35 months of therapy, and recurrence had not been observed during the 19 months of follow-up. In three patients, maintenance doses had been spaced out without any recurrence. One additional patient with anti-CFH antibody received only two doses of eculizumab for transplantation and had been followed for 46 months without aHUS recurrence. The remaining three patients had not received anti-C5 therapy and none of those patients experienced aHUS recurrence during a median follow-up period of 21 (min-max, 9-42) months. Prophylactic eculizumab is a safe and effective treatment for the prevention of aHUS recurrence. Eculizumab interval prolongation, discontinuation, and transplantation without eculizumab prophylaxis can be tried in selected patients with close follow-up.
Assuntos
Anticorpos Monoclonais Humanizados/uso terapêutico , Síndrome Hemolítico-Urêmica Atípica/tratamento farmacológico , Síndrome Hemolítico-Urêmica Atípica/cirurgia , Inativadores do Complemento/uso terapêutico , Transplante de Rim , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Estudos RetrospectivosRESUMO
Background/aim: Growth differentiation factor (GDF)-15 is related to inflammation and mortality in many conditions. We aimed to determine if an elevated serum GDF-15 level is related to nutritional status of patients on hemodialysis (HD) and mortality. Materials and methods: Routine HD patients (n = 158) were included in the study and followed for 18 months. Some malnutrition/ inflammation scoring indexes (malnutrition/inflammation score (MIS), controlling nutritional status (CONUT) score, and prognostic nutritional index (PNI)), biochemical parameters, and GDF-15 were used to build Cox regression multivariate models to study the association with mortality. Results: Among the patients, 90 (57 %) had a high MIS (≥8), which associates with worse status. The serum GDF-15 level was higher in the same group (p = 0.003). The serum GDF-15 level differentiated malnutrition/inflammation according to the MIS (p = 0.031). Age, GDF15, and C-reactive protein (CRP) were significantly associated with higher all-cause mortality risk. Patients with both age and GDF-15 above the mean had a hazard ratio of 2.76 (p = 0.006) when compared with those both < mean. Conclusion: In HD patients, the GDF-15 level is increased in worse nutritional status. Beyond the MIS, age, GDF-15 and CRP would be used together to estimate the worse clinical outcome in these patients.
Assuntos
Fator 15 de Diferenciação de Crescimento , Desnutrição , Diálise Renal , Biomarcadores , Proteína C-Reativa/análise , Fator 15 de Diferenciação de Crescimento/sangue , Humanos , Inflamação , Desnutrição/diagnóstico , Desnutrição/epidemiologia , Estado NutricionalRESUMO
BACKGROUND: We explored the variation in country mortality rates in the paediatric population receiving renal replacement therapy across Europe, and estimated how much of this variation could be explained by patient-level and country-level factors. METHODS: In this registry analysis, we extracted patient data from the European Society for Paediatric Nephrology/European Renal Association-European Dialysis and Transplant Association (ESPN/ERA-EDTA) Registry for 32 European countries. We included incident patients younger than 19 years receiving renal replacement therapy. Adjusted hazard ratios (aHR) and the explained variation were modelled for patient-level and country-level factors with multilevel Cox regression. The primary outcome studied was all-cause mortality while on renal replacement therapy. FINDINGS: Between Jan 1, 2000, and Dec 31, 2013, the overall 5 year renal replacement therapy mortality rate was 15·8 deaths per 1000 patient-years (IQR 6·4-16·4). France had a mortality rate (9·2) of more than 3 SDs better, and Russia (35·2), Poland (39·9), Romania (47·4), and Bulgaria (68·6) had mortality rates more than 3 SDs worse than the European average. Public health expenditure was inversely associated with mortality risk (per SD increase, aHR 0·69, 95% CI 0·52-0·91) and explained 67% of the variation in renal replacement therapy mortality rates between countries. Child mortality rates showed a significant association with renal replacement therapy mortality, albeit mediated by macroeconomics (eg, neonatal mortality reduced from 1·31 [95% CI 1·13-1·53], p=0·0005, to 1·21 [0·97-1·51], p=0·10). After accounting for country distributions of patient age, the variation in renal replacement therapy mortality rates between countries increased by 21%. INTERPRETATION: Substantial international variation exists in paediatric renal replacement therapy mortality rates across Europe, most of which was explained by disparities in public health expenditure, which seems to limit the availability and quality of paediatric renal care. Differences between countries in their ability to accept and treat the youngest patients, who are the most complex and costly to treat, form an important source of disparity within this population. Our findings can be used by policy makers and health-care providers to explore potential strategies to help reduce these health disparities. FUNDING: ERA-EDTA and ESPN.
Assuntos
Acessibilidade aos Serviços de Saúde , Disparidades em Assistência à Saúde , Falência Renal Crônica/mortalidade , Falência Renal Crônica/terapia , Terapia de Substituição Renal , Adolescente , Criança , Pré-Escolar , Europa (Continente)/epidemiologia , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Modelos de Riscos Proporcionais , Sistema de Registros , Adulto JovemRESUMO
BACKGROUND: Atypical hemolytic uremic syndrome (aHUS) is a chronic disease characterized by thrombotic microangiopathy and a high risk of end-stage kidney disease. Dysregulation and/or excessive activation of the complement system results in thrombotic microangiopathy. Interest in extrarenal manifestations of aHUS is increasing. This study aimed to determine the clinical characteristics of patients with extrarenal manifestations of aHUS in childhood. METHODS: This study included 70 children with extrarenal manifestations of HUS from the national Turkish aHUS Registry. The demographics, clinical characteristics, genetic test results, all treatments, and renal/hematologic status of aHUS patients with extrarenal involvement were recorded. RESULTS: The most common extrarenal manifestation was neurological system involvement (n = 46 [27.2%]), followed by gastrointestinal (n = 20 [11.8%]), cardiovascular (n = 12 [7%]), and respiratory (n = 12 [7%]) involvement. The patients with neurological involvement had a higher mortality rate and a lower estimated glomerular filtration rate (eGFR) than the other patients at last follow-up. Eculizumab (with or without plasma exchange/plasma infusion) treatment increased the renal and hematologic recovery rates. CONCLUSIONS: The most common and serious extrarenal manifestation of aHUS is neurological involvement and treatment outcome findings presented herein are important to all relevant clinicians.
Assuntos
Síndrome Hemolítico-Urêmica Atípica/complicações , Doenças Cardiovasculares/epidemiologia , Doenças do Sistema Nervoso Central/epidemiologia , Gastroenteropatias/epidemiologia , Doenças Respiratórias/epidemiologia , Adolescente , Anticorpos Monoclonais Humanizados/uso terapêutico , Síndrome Hemolítico-Urêmica Atípica/genética , Síndrome Hemolítico-Urêmica Atípica/terapia , Doenças Cardiovasculares/diagnóstico , Doenças Cardiovasculares/etiologia , Doenças Cardiovasculares/prevenção & controle , Doenças do Sistema Nervoso Central/diagnóstico , Doenças do Sistema Nervoso Central/etiologia , Doenças do Sistema Nervoso Central/prevenção & controle , Criança , Pré-Escolar , Feminino , Seguimentos , Gastroenteropatias/diagnóstico , Gastroenteropatias/etiologia , Gastroenteropatias/prevenção & controle , Taxa de Filtração Glomerular , Humanos , Lactente , Masculino , Troca Plasmática , Prognóstico , Sistema de Registros/estatística & dados numéricos , Doenças Respiratórias/diagnóstico , Doenças Respiratórias/etiologia , Doenças Respiratórias/prevenção & controle , Estudos Retrospectivos , Taxa de Sobrevida , Resultado do Tratamento , Turquia/epidemiologiaRESUMO
We investigated the value of genetic, histopathologic, and early treatment response information in prognosing long-term renal outcome in children with primary steroid-resistant nephrotic syndrome. From the PodoNet Registry, we obtained longitudinal clinical information for 1354 patients (disease onset at >3 months and <20 years of age): 612 had documented responsiveness to intensified immunosuppression (IIS), 1155 had kidney biopsy results, and 212 had an established genetic diagnosis. We assessed risk factors for ESRD using multivariate Cox regression models. Complete and partial remission of proteinuria within 12 months of disease onset occurred in 24.5% and 16.5% of children, respectively, with the highest remission rates achieved with calcineurin inhibitor-based protocols. Ten-year ESRD-free survival rates were 43%, 94%, and 72% in children with IIS resistance, complete remission, and partial remission, respectively; 27% in children with a genetic diagnosis; and 79% and 52% in children with histopathologic findings of minimal change glomerulopathy and FSGS, respectively. Five-year ESRD-free survival rate was 21% for diffuse mesangial sclerosis. IIS responsiveness, presence of a genetic diagnosis, and FSGS or diffuse mesangial sclerosis on initial biopsy as well as age, serum albumin concentration, and CKD stage at onset affected ESRD risk. Our findings suggest that responsiveness to initial IIS and detection of a hereditary podocytopathy are prognostic indicators of favorable and poor long-term outcome, respectively, in children with steroid-resistant nephrotic syndrome. Children with multidrug-resistant sporadic disease show better renal survival than those with genetic disease. Furthermore, histopathologic findings may retain prognostic relevance when a genetic diagnosis is established.
Assuntos
Imunossupressores/uso terapêutico , Falência Renal Crônica/etiologia , Síndrome Nefrótica/congênito , Adolescente , Criança , Pré-Escolar , Seguimentos , Humanos , Lactente , Síndrome Nefrótica/complicações , Síndrome Nefrótica/tratamento farmacológico , Análise de SobrevidaRESUMO
DUSG is a useful diagnostic tool for the follow-up of renal transplant recipients. The measurement of intrarenal arterial RI by DUSG has been proven to predict short-term AF. The aim of the study was to evaluate the predictive value of DUSG performed during the early after RTx on long-term AF. Seventy patients were enrolled into study. DUSG was performed at third and seventh days after RTx. Patients were divided into two groups according to rate of recovery of graft function as patients with normal graft function and abnormal graft function. Although the RI values were correlated with the AF early after transplantation, they were not correlated with long-term AF. However, the rate of recovery of graft function at early period after RTx was correlated with creatinine level at first year and with glomerular filtration rate at first year and last visit. Although the RI has no predictive value for long-term AF, the rate of recovery of graft function at early post-transplantation period has predictive value for long-term AF; patients with higher RI values early after RTx should be followed carefully for the development of chronic allograft injury.
Assuntos
Transplante de Rim , Insuficiência Renal/diagnóstico por imagem , Insuficiência Renal/cirurgia , Ultrassonografia Doppler , Adolescente , Adulto , Aloenxertos , Criança , Pré-Escolar , Creatinina/análise , Feminino , Seguimentos , Taxa de Filtração Glomerular , Sobrevivência de Enxerto , Humanos , Imunossupressores/uso terapêutico , Rim/fisiopatologia , Masculino , Valor Preditivo dos Testes , Insuficiência Renal/fisiopatologia , Resultado do Tratamento , Resistência Vascular , Adulto JovemRESUMO
INTRODUCTION: To investigate autonomic nervous system function in enuretic children by performing ambulatory blood pressure monitor (ABPM) for 24 h. METHODS: Twenty-eight children ranging in age from 6 to 15 years with primary nocturnal enuresis and 27 age-matched healthy controls were enrolled and they get 24 h ABPM. Hypertension was defined as standard deviation score (SDS) > 1.64 (i.e., >95th percentile) adjusted for gender and height. Urinalysis, urine electrolyte levels, urinary culture, and urinary system ultrasound were carried out in all children. They have also requested to have a diary about daily fluid intake and urine volume. RESULTS: Although the mean 24-h and daytime diastolic blood pressure (BP) did not differ between the groups, systolic BP (SBP) was significantly higher in enuretic children (p < 0.05). The mean night-time SBP, DBP values, SDS and BP loads were found to be significantly higher than those in the controls (p < 0.01). A lack of nocturnal decrease was more prevalent in the enuretic children compared with the control subjects, the difference was statistically significant for DBP but not for SBP. Patients with elevated night-time BP load was found to have higher frequency of urinary incontinence per week as well as per night when compared with enuretic children with normal night-time BP load (r = 0.72, r = 0.69, p < 0.01, respectively). CONCLUSION: Subtle abnormalities of circadian BP regulation in enuretic children indicated by a selective elevation of nocturnal SBP, DBP, and MAP, and attenuated nocturnal dipping may reflect sympathetic hyper activation and its possible role in pathogenesis of enuresis.
Assuntos
Monitorização Ambulatorial da Pressão Arterial , Ritmo Circadiano , Hipertensão/epidemiologia , Enurese Noturna/epidemiologia , Adolescente , Estudos de Casos e Controles , Criança , Feminino , Humanos , Masculino , Fatores de RiscoRESUMO
OBJECTIVES: Presence of common MEFV gene mutations strengthened the diagnosis of FMF in addition to the typical clinical characteristics of FMF. However, there are also rare mutations. P369S, A744S, R761H, K695R, F479L are the main rare mutations in Turkish population. We aimed to evaluate FMF patients with a single allele MEFV mutation and to compare patients with common and rare mutations. METHODS: We retrospectively reviewed the medical records of FMF patients with a single allele mutation who were followed up between 2008 and 2013 in six centres. We compared the patients with rare and common mutations for disease severity score, frequent exacerbations ( >1 attack per month), long attack period (>3 day), symptoms, age at the onset of symptoms, gender, consanguinity, and family history. RESULTS: Two hundred and seventeen patients (M/F=101/116) with the diagnosis of FMF and single mutation were included. Heterozygote mutations were defined as common (M694V, V726A, M68OI) and rare mutations (A744S, P369S, K695R, R761H, F479L). Sixty-seven patients (27 males, 40 females) had one single rare mutation and 150 (74 males, 76 females) had one single common mutation. No difference was found between the rare and common mutations with respect to the disease severity score. There was no significant difference between common and rare heterozygote form of mutations in terms of disease severity. CONCLUSIONS: Patients with typical characteristics of FMF, with some rare mutations (A744S, P369S) should be treated in the same manner as patients with a common mutation.
Assuntos
Proteínas do Citoesqueleto/genética , Febre Familiar do Mediterrâneo/genética , Mutação , Fatores Etários , Criança , Pré-Escolar , Febre Familiar do Mediterrâneo/diagnóstico , Febre Familiar do Mediterrâneo/epidemiologia , Febre Familiar do Mediterrâneo/terapia , Feminino , Frequência do Gene , Predisposição Genética para Doença , Heterozigoto , Humanos , Masculino , Prontuários Médicos , Fenótipo , Prognóstico , Pirina , Estudos Retrospectivos , Fatores de Risco , Fatores de Tempo , Turquia/epidemiologiaRESUMO
BACKGROUND: Disorders of complement regulation are the most important etiology of atypical hemolytic uremic syndrome (aHUS). Recent studies demonstrate that eculizumab is beneficial in long-term aHUS treatment. We present a series of children with aHUS resistant to/dependent on plasma exchange (PE) who were treated with eculizumab. METHODS: This was a retrospective study in which data were retrieved from the medical files of children who had received PE as treatment for aHUS. The data retrieved included age, sex, presenting symptoms, presence of diarrhea/vomiting, hospitalization duration, laboratory data on admission and follow-up, need for transfusion or dialysis, response to PE, response to eculizumab and outcome. RESULTS: Of the 15 children diagnosed with aHUS in 2011 and 2012 in our departments, ten were resistant to, or dependent on, plasma therapy and treated with eculizumab; these children were enrolled in the study. Three patients had relapses, and seven had a new diagnosis. Nine children had oliguria or anuria, and eight required dialysis. Hypertension was observed in six patients. Neurologic involvement developed in six patients, with the symptoms including seizures, loss of balance, vision loss and severe confusion. Five and five patients were resistant to and dependent on plasma therapy, respectively. Following the start of eculizumab treatment, all patients achieved full recovery of renal function and hematologic parameters. CONCLUSIONS: In our ten pediatric patients with aHUS who did not respond to PE, eculizumab was a lifesaving therapy and improved their quality of life. Early eculizumab use was a rescue therapy for renal function. Our results show that eculizumab is an effective treatment for aHUS. However, more studies are needed on the long-term efficacy and safety of eculizumab in children with aHUS and to determine the optimal duration of treatment.
Assuntos
Anticorpos Monoclonais Humanizados/uso terapêutico , Síndrome Hemolítico-Urêmica Atípica/tratamento farmacológico , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Estudos RetrospectivosRESUMO
AIM: The importance of changes about platelet emphasized in most chronically diseases in recent years. Mean platelet volume (MPV) and platelet count can be used as a prognostic biomarker. In this study, clinical importance of the changes of MPV during active and remission phases in children with nephrotic syndrome was investigated. PATIENTS AND METHODS: Fifty-five children with nephrotic syndrome (30 females, 25 males) and 29 healthy children (18 females, 11 males) were included to the study. Patients were divided in two groups (steroid sensitive nephrotic syndrome and focal segmental glomerulosclerosis). Demographic characteristics of the patients, type of nephrotic syndrome were recorded and laboratory parameters in active and remission phases were evaluated. RESULTS: Mean platelet count in the patient group was significantly higher than control group. Mean platelet count of FSGS group was significantly higher than SSNS group. Mean MPV value was significantly lower in active period of nephrotic syndrome when compared with control group. A significant negative relation between mean MPV value and mean platelet count was found. Significant positive correlations between mean platelet count and mean total cholesterol and mean triglyceride levels were demonstrated. CONCLUSION: MPV in nephrotic syndrome patients can be an easy, cheap and simple method for determine the prognosis of the disease and steroid resistance.
Assuntos
Biomarcadores , Volume Plaquetário Médio , Síndrome Nefrótica/sangue , Adolescente , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Síndrome Nefrótica/diagnóstico , PrognósticoRESUMO
OBJECTIVES: Solid-organ transplant recipients are at an increased risk of severe infections due to their immunosuppressed state. Despite the recommendation of routine screening and vaccination before transplant to mitigate this danger, vaccination rates in these patients are still below desirable levels. We aimed to investigate the prevalence of positive antibody rates for measles, mumps, rubella, and varicella among children who are candidates for renal transplant. MATERIALS AND METHODS: This retrospective study was conducted at a single center and included 144 pediatric kidney transplant patients for the past 7 years. We reviewed the medical records of all participants to evaluate their serologic status for measles, mumps, rubella, and varicella viruses before kidney transplant. RESULTS: In this study, 144 pediatric kidney transplant candidates (mean age 11.5 years, 56.9% male) were enrolled, and the most frequent causes of the chronic renal disease were congenital anomalies of the kidney and urinary tract and glomerular diseases (32.6%). Seropositivity rates for measles, mumps, rubella, and varicella were 59.0%, 31.9%, 46.5%, and 43.6%, respectively, and all patients who tested negative for antibodies were vaccinated before transplant. Younger age at transplant (OR = 0.909, 95% CI = 0.840-0.923; P = .017) and congenital anomalies of the kidney and urinary tract (OR = 3.46, 95% CI = 1.1548-7.735; P = .002) were significantly associated with increased measles seropositivity, although no significant associations were observed for the other viruses. CONCLUSIONS: We observed lower seropositivity rates for measles, mumps, rubella, and varicella in pediatric kidney transplant patients versus healthy children and other previous studies. It is essential to address these suboptimal rates to protect the health of these vulnerable patients. Future research should focus on targeted interventions to improve vaccination rates and outcomes in this population.
Assuntos
Varicela , Transplante de Rim , Sarampo , Caxumba , Rubéola (Sarampo Alemão) , Vacinas Virais , Criança , Feminino , Humanos , Masculino , Anticorpos Antivirais , Varicela/prevenção & controle , Herpesvirus Humano 3 , Sarampo/prevenção & controle , Vacina contra Sarampo-Caxumba-Rubéola/administração & dosagem , Caxumba/prevenção & controle , Estudos Retrospectivos , Rubéola (Sarampo Alemão)/prevenção & controle , Vacinas Atenuadas , Vacinas Virais/administração & dosagemRESUMO
Introduction: Congenital anomalies of the kidney and urinary tract (CAKUT) are characterized by several malformations. Its prevalence is 0.3-0.6% in live births. The B-cell lymphoma (BCL-2) gene regulates apoptosis, and the Leukemia Inhibitory Factor (LIF) gene plays a role in many biological processes, such as blastocyst growth and uterine preparation for implantation. In this study, two single nucleotide polymorphisms (SNPs) of the BCL-2 gene (rs2279115 and rs4987856) and one SNP of the LIF gene (rs929271) were investigated in CAKUT patients for the first time. Methods: Hundred and twenty-nine CAKUT patients and 105 controls were enrolled in this study. We used polymerase chain reaction-restriction fragment length polymorphism for rs2279115 and rs929271 and SNaPshot for rs4987856. The χ2 test was used to compare discrete variables, and the independent sample t test was used to compare continuous variables. Results: The allele frequencies for the rs2279115 and rs4987856 polymorphisms of BCL-2 and the rs929271 polymorphism of LIF were not significantly different between the patient and control groups (p = 0.162, p = 0.053, p = 0.635, respectively). However, the co-segregation analysis revealed a significant difference in the distribution of allele frequencies between the patient and control groups for two genetic variations: LIF rs929271 SNP and BCL-2 rs4987856 SNP (p = 0.034). The relative odds ratio was 2.444 (95% Confidence Interval (CI) 1.054-5.671). Conclusion: This study, which is the first time in the literature, showed that changes in BCL-2 and LIF genes are associated with CAKUT disease.
RESUMO
OBJECTIVES: Viral infections are the leading cause of posttransplant morbidity and mortality. We aimed to determine the effect on graft function, the risk factors, the frequency, and types of viral infections and to evaluate the effect of viral infections on kidney and patient outcomes in pediatric kidney transplant patients. MATERIALS AND METHODS: Records of children undergoing kidney transplant in our center during the period February 1, 2010, to December 31, 2023, were retrospectively evaluated. Demographic and laboratory data, kidney failure etiologies, donor types, immunosuppression treatments, acute rejection episodes, accompanying viral infections, glomerular filtration rate, and graft loss rate were analyzed. RESULTS: Seventy-nine pediatric kidney transplant recipients were included in the study. The number of patients who experienced viral infections was 18 (23%). In total, 25 infection episodes were identified, with 6 (24%) attributed to cytomegalovirus infection, 8 (32%) to BK virus infection, 6 (24%) to varicella zoster virus infection (4 cases of shingles, 2 cases of chickenpox), 4 (16%) to parvovirus B19 infection, and 2 (8%) to COVID-19. Of 25 infection episodes, rejection episodes were observed in 11 cases (44%), and infections manifested after rejection in 8 cases (32%). Viral infections occurred an average of 15 months after rejection episodes. For 15 (60%) of the 25 infection episodes, the glomerular filtration rate was observed to be <60 mL/min/1.73 m2 during viral infection. Two patients succumbed to viral infections; 1 was due to COVID-19, and 1 was due to coinfection with parvovirus B19 and cytomegalovirus. CONCLUSIONS: Our data emphasized the significant effect of viral infections on pediatric kidney transplant recipients. Early diagnosis and treatment in kidney transplant recipients are important, and clinicians should be alert.