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1.
Pediatr Nephrol ; 39(2): 483-491, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37462743

RESUMO

BACKGROUND: One of the most common bacterial infections in childhood is urinary tract infection (UTI). Toll-like receptors (TLRs) contribute to immune response against UTI recognizing specific pathogenic agents. Our aim was to determine whether soluble TLR4 (sTLR4), soluble TLR5 (sTLR5) and interleukin 8 (IL-8) can be used as biomarkers to diagnose UTI. We also aimed to reveal the relationship between urine Heat Shock Protein 70 (uHSP70) and those biomarkers investigated in this study. METHODS: A total of 802 children from 37 centers participated in the study. The participants (n = 282) who did not meet the inclusion criteria were excluded from the study. The remaining 520 children, including 191 patients with UTI, 178 patients with non-UTI infections, 50 children with contaminated urine samples, 26 participants with asymptomatic bacteriuria and 75 healthy controls were included in the study. Urine and serum levels of sTLR4, sTLR5 and IL-8 were measured at presentation in all patients and after antibiotic treatment in patients with UTI. RESULTS: Urine sTLR4 was higher in the UTI group than in the other groups. UTI may be predicted using 1.28 ng/mL as cut-off for urine sTLR4 with 68% sensitivity and 65% specificity (AUC = 0.682). In the UTI group, urine sTLR4 levels were significantly higher in pyelonephritis than in cystitis (p < 0.0001). Post-treatment urine sTLR4 levels in the UTI group were significantly lower than pre-treatment values (p < 0.0001). CONCLUSIONS: Urine sTLR4 may be used as a useful biomarker in predicting UTI and subsequent pyelonephritis in children with UTI. A higher resolution version of the Graphical abstract is available as Supplementary information.


Assuntos
Pielonefrite , Infecções Urinárias , Criança , Humanos , Interleucina-8/urina , Receptor 4 Toll-Like , Infecções Urinárias/diagnóstico , Infecções Urinárias/urina , Pielonefrite/diagnóstico , Biomarcadores
2.
Clin Nephrol ; 2024 05 03.
Artigo em Inglês | MEDLINE | ID: mdl-38699986

RESUMO

AIMS: Hepatocyte nuclear factor 1ß (HNF1B) mutations are the most common monogenic cause of congenital anomalies of the kidney and urinary tract (CAKUT). We aimed to investigate clinical and genetic characteristics of patients with HNF1B nephropathy to expand its phenotypic and genetic spectrum. MATERIALS AND METHODS: This retrospective cohort study included 16 unrelated pediatric patients (6 females, 10 males) from 13 families with genetically confirmed HNF1B-related nephropathy. RESULTS: Abnormal prenatal kidney abnormalities were present in 13 patients (81.3%). The most common antenatal kidney abnormality was kidney cysts, which were observed in 8 patients (61.5%). Urinary system abnormalities (vesicoureteral reflux (VUR) and ureteropelvic junction obstruction (UPJO)) were present in 4 patients (25%). HNF1B analysis uncovered missense variants in 4 families (30.8%) as the most common genetic abnormality. In addition, 4 novel pathological variations have been defined. During follow-up, hypomagnesemia and hyperuricemia were observed in 7 (43.8%) and 5 patients (31.3%), respectively. None of the patients with a missense variant had hypomagnesemia. However, 7 out of 12 patients (58.3%) with a non-missense variant had hypomagnesemia (p = 0.09). None of the patients had an HNF1B score below 8, and the mean score was 15.3 ± 4.4. The mean follow-up period was 7.4 ± 5.0 years. While 100% of patients (n = 4) with missense variants were in various stages of CKD (CKD2: 2 patients, CKD3: 2 patients), 25% of those with non-missense variants had CKD (CKD2, 3, and 5; 1 patient, respectively) (p = 0.026). CONCLUSION: Patients with HNF1B-associated disease have concomitant urinary system abnormalities such as VUR or UPJO. Missense variants seem to be the most common pathological variations in HNF1B gene and have higher risk of CKD.

3.
Pediatr Nephrol ; 38(3): 791-799, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-35849222

RESUMO

BACKGROUND: The accuracy of conventional urinalysis in diagnosing urinary tract infection (UTI) in children is limited, leading to unnecessary antibiotic exposure in a large fraction of patients. Urinary heat shock protein 70 (uHSP70) is a novel marker of acute urinary tract inflammation. We explored the added value of uHSP70 in discriminating UTI from other infections and conditions confused with UTI. METHODS: A total of 802 children from 37 pediatric centers in seven countries participated in the study. Patients diagnosed with UTI (n = 191), non-UTI infections (n = 178), contaminated urine samples (n = 50), asymptomatic bacteriuria (n = 26), and healthy controls (n = 75) were enrolled. Urine and serum levels of HSP70 were measured at presentation in all patients and after resolution of the infection in patients with confirmed UTI. RESULTS: Urinary (u)HSP70 was selectively elevated in children with UTI as compared to all other conditions (p < 0.0001). uHSP70 predicted UTI with 89% sensitivity and 82% specificity (AUC = 0.934). Among the 265 patients with suspected UTI, the uHSP70 > 48 ng/mL criterion identified the 172 children with subsequently confirmed UTI with 90% sensitivity and 82% specificity (AUC = 0.862), exceeding the individual diagnostic accuracy of leukocyturia, nitrite, and leukocyte esterase positivity. uHSP70 had completely normalized by the end of antibiotic therapy in the UTI patients. Serum HSP70 was not predictive. CONCLUSIONS: Urine HSP70 is a novel non-invasive marker of UTI that improves the diagnostic accuracy of conventional urinalysis. We estimate that rapid urine HSP70 screening could spare empiric antibiotic administration in up to 80% of children with suspected UTI. A higher resolution version of the Graphical abstract is available as Supplementary information.


Assuntos
Infecções Urinárias , Sistema Urinário , Humanos , Criança , Infecções Urinárias/tratamento farmacológico , Urinálise , Antibacterianos/uso terapêutico , Proteínas de Choque Térmico HSP70 , Sensibilidade e Especificidade
4.
Pediatr Nephrol ; 37(7): 1575-1584, 2022 07.
Artigo em Inglês | MEDLINE | ID: mdl-34767076

RESUMO

BACKGROUND: Long-term steroid treatment in children is known to cause obesity and negatively affect growth. The objective of this study was to determine the prevalence of obesity and overweight and analyze linear growth in children with nephrotic syndrome. METHODS: The study involved 265 children treated with glucocorticoids for nephrotic syndrome for a mean duration of 43 months (range: 6-167, IQR: 17, 63.3). Height, weight, and BMI SDS were recorded at each visit. Rate of change between the final and initial height, weight, and BMI was calculated (Δ score). The cumulative steroid dose (mg/kg/day) during follow-up was calculated. Relapses without significant edema were treated with low-dose steroids and steroid-sparing drugs were used in children with steroid dependency/frequent relapses. RESULTS: Mean first BMI SDS was + 1.40 ± 1.30 and final + 0.79 ± 1.30. At initial assessment, 41.4% of the patients were obese (BMI ≥ 95th percentile) and 19.5% were overweight (BMI 85th-95th percentile). At the last clinical visit, 24% were obese and 17% overweight. The children had lower BMI SDS at last clinical visit compared to initial assessment. Mean first height SDS of the cohort was - 0.11 ± 1.22 and final score 0.078 ± 1.14 (p < 0.0001). Almost 85% of patients were treated with steroid-sparing drugs. CONCLUSIONS: Our results indicate that children with nephrotic syndrome, despite a need for steroid treatment for active disease, can improve their obesity and overweight and also improve their linear growth from their first to last visit with us.


Assuntos
Nefrose Lipoide , Síndrome Nefrótica , Criança , Humanos , Síndrome Nefrótica/induzido quimicamente , Síndrome Nefrótica/tratamento farmacológico , Síndrome Nefrótica/epidemiologia , Obesidade/complicações , Obesidade/epidemiologia , Sobrepeso , Prevalência , Recidiva , Esteroides/uso terapêutico
5.
Pediatr Nephrol ; 37(8): 1855-1866, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-35034193

RESUMO

BACKGROUND: The phenotypic and genotypic spectrum and kidney outcome of PLCε1-related kidney disease are not well known. We attempted to study 25 genetically confirmed cases of PLCε1-related kidney disease from 11 centers to expand the clinical spectrum and to determine the relationship between phenotypic and genotypic features, kidney outcome, and the impact of treatment on outcome. METHODS: Data regarding demographics, clinical and laboratory characteristics, histopathological and genetic test results, and treatments were evaluated retrospectively. RESULTS: Of 25 patients, 36% presented with isolated proteinuria, 28% with nephrotic syndrome, and 36% with chronic kidney disease stage 5. Twenty patients underwent kidney biopsy, 13 (65%) showed focal segmental glomerulosclerosis (FSGS), and 7 (35%) showed diffuse mesangial sclerosis (DMS). Of the mutations identified, 80% had non-missense, and 20% had missense; ten were novel. No clear genotype-phenotype correlation was observed; however, significant intrafamilial variations were observed in three families. Patients with isolated proteinuria had significantly better kidney survival than patients with nephrotic syndrome at onset (p = 0.0004). Patients with FSGS had significantly better kidney survival than patients with DMS (p = 0.007). Patients who presented with nephrotic syndrome did not respond to any immunosuppressive therapy; however, 4/9 children who presented with isolated proteinuria showed a decrease in proteinuria with steroids and/or calcineurin inhibitors. CONCLUSION: PLCε1-related kidney disease may occur in a wide clinical spectrum, and genetic variations are not associated with clinical presentation or disease course. However, clinical presentation and histopathology appear to be important determinants for prognosis. Immunosuppressive medications in addition to angiotensin-converting enzyme inhibitors may be beneficial for selected patients. "A higher resolution version of the Graphical abstract is available as Supplementary information".


Assuntos
Glomerulosclerose Segmentar e Focal , Nefropatias , Síndrome Nefrótica , Fosfoinositídeo Fosfolipase C , Proteinúria , Glomerulosclerose Segmentar e Focal/complicações , Humanos , Rim/patologia , Nefropatias/genética , Nefropatias/patologia , Síndrome Nefrótica/diagnóstico , Síndrome Nefrótica/tratamento farmacológico , Síndrome Nefrótica/genética , Fosfoinositídeo Fosfolipase C/genética , Proteinúria/complicações , Proteinúria/genética , Estudos Retrospectivos , Esclerose
6.
Pediatr Nephrol ; 37(2): 393-402, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-34331573

RESUMO

BACKGROUND: Children are one of the most vulnerable groups in conflict zones, especially those with chronic diseases. This study aimed to investigate kidney disease profiles and problems during follow-up in a population of Syrian refugee children residing in Turkey. METHODS: Syrian refugee children aged between 0 and 18 years were included in the study. Demographic data, diagnosis, particular interventions due to nephrological problems, and problems encountered during follow-up were obtained from all participating pediatric nephrology centers. RESULTS: Data from 633 children from 22 pediatric nephrology centers were included. Mean age of the children was 94.8 ± 61.7 months and 375 were male (59%). 57.7% had parental consanguinity and 23.3% had a close relative(s) with kidney disease. The most common kidney diseases were congenital anomalies of the kidney and urinary tract (CAKUT) (31.0%), glomerular disease (19.9%), chronic kidney disease (CKD) (14.8%), and urolithiasis (10.7%). Frequent reasons for CAKUT were nonobstructive hydronephrosis (23.0%), vesico-ureteral reflux (18.4%), and neurogenic bladder (15.8%). The most common etiology of glomerular diseases was nephrotic syndrome (69%). Ninety-four children had CKD, and 58 children were on chronic dialysis. Six children had kidney transplantation. Surgical intervention was performed on 111 patients. The language barrier, lack of medical records, and frequent disruptions in periodic follow-ups were the main problems noted. CONCLUSIONS: CAKUT, glomerular disease, and CKD were highly prevalent in Syrian refugee children. Knowing the frequency of chronic diseases and the problems encountered in refugees would facilitate better treatment options and preventive measures.


Assuntos
Refugiados , Insuficiência Renal Crônica , Adolescente , Criança , Pré-Escolar , Doença Crônica , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Masculino , Insuficiência Renal Crônica/diagnóstico , Estudos Retrospectivos , Síria/epidemiologia , Anormalidades Urogenitais , Refluxo Vesicoureteral
7.
Eur J Pediatr ; 181(1): 117-123, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34218318

RESUMO

The study aims to present the incidence of COVID-19 in pediatric patients undergoing renal replacement therapy (RRT) and to compare the severity and outcomes of the disease between the dialysis and kidney transplant (KTx) groups. This multicenter observational study was conducted between 1 April and 31 December 2020 in Istanbul. Members of the Istanbul branch of the Turkish Pediatric Nephrology Association were asked to report all confirmed cases of COVID-19 who were on RRT, as well as the number of prevalent RRT patients under the age of 20. A total of 46 confirmed cases of COVID-19 were reported from 12 centers, of which 17 were dialysis patients, and 29 were KTx recipients. Thus, the incidence rate of COVID-19 was 9.3% among dialysis patients and 9.2% among KTx recipients over a 9-month period in Istanbul. Twelve KTx recipients and three dialysis patients were asymptomatic (p = 0.12). Most of the symptomatic patients in both the dialysis and KTx groups had a mild respiratory illness. Only two patients, one in each group, experienced a severe disease course, and only one hemodialysis patient had a critical illness that required mechanical ventilation. In the entire cohort, one hemodialysis patient with multiple comorbidities died.Conclusion: While most cases are asymptomatic or have a mild disease course, pediatric patients undergoing dialysis and a kidney transplant are at increased risk for COVID-19. What is Known: • In adult population, both dialysis patients and kidney transplant recipients are at increased risk for severe illness of COVID-19 and have higher mortality rate. • Children with kidney transplantation are not at increased risk for COVID-19 and most have mild disease course. • Data on children on dialysis are scarce. What is New: • Pediatric patients undergoing dialysis and kidney transplantation have an increased risk for COVID-19. • Most patients undergoing renal replacement therapy either on dialysis or transplanted develop asymptomatic or mild COVID-19 disease with a favorable outcome.


Assuntos
COVID-19 , Falência Renal Crônica , Transplante de Rim , Nefrologia , Adulto , Criança , Humanos , Falência Renal Crônica/terapia , Diálise Renal , SARS-CoV-2
8.
Int J Clin Pract ; 75(11): e14810, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34487588

RESUMO

BACKGROUND: Technetium-99m-dimercapto succinic acid (Tc-99m DMSA) scintigraphy is a commonly used imaging modality in children with urological abnormalities. The radiopharmaceuticals, which have the effects of ionising radiation, are used in this method. This study aimed to investigate the impact of the Tc-99m DMSA scan on renal oxidative stress and mononuclear leukocyte (MNL) DNA damage. METHODS: Children, who were followed up by paediatric nephrology at Bezmialem Vakif University and underwent Tc-99m DMSA scintigraphy between April 2015 and January 2016 with the indication of detection of renal scars, were included in this study. The exclusion criteria were nephrolithiasis, history of premature birth and recent urinary tract infection 3 months prior to scintigraphy or antibiotic use in the last 1 month. 3 mL heparinised blood samples were obtained just before, immediately after and 1 week after the scintigraphy. MNL DNA damage, total antioxidant status (TAS) and total oxidant status (TOS) were measured in the blood samples. The oxidative stress index (OSI) was calculated. Spot urine samples were obtained from each patient before and within 3 days after performing the scintigraphy. TAS/Creatinine (TAS/Cr), TOS/Creatinine (TOS/Cr) and N-acetyl-glucosaminidase/creatinine (NAG/Cr) levels were measured in the urine samples. RESULTS: Twenty-seven children were evaluated. The values between TAS, TOS and OSI levels in serum samples at baseline, immediately after and 1 week after the scintigraphy (P = .105, P = .913, and P = .721, respectively) showed no statistically significant difference. The levels of TAS/Cr, TOS/Cr, NAG/Cr ratios and OSI, which were evaluated from urine samples before and within 3 days after the scintigraphy scan were also similar (P = .391, P = .543, P = .819 and P = .179, respectively). The levels of DNA damage only increased following scintigraphy scan and decreased a week later (P < .05). CONCLUSIONS: The effect of Tc-99m DMSA scintigraphy is insufficient to create oxidative damage, but it can cause DNA damage via the direct impact of ionising radiation which can be repaired again in a short time.


Assuntos
Ácido Succínico , Tecnécio , Criança , Dano ao DNA , Humanos , Rim , Estresse Oxidativo , Cintilografia , Compostos Radiofarmacêuticos , Ácido Dimercaptossuccínico Tecnécio Tc 99m
9.
Turk J Med Sci ; 51(4): 1781-1790, 2021 08 30.
Artigo em Inglês | MEDLINE | ID: mdl-33581711

RESUMO

Background/aim: This study aimed to evaluate the efficacy of rituximab in children with difficult-to-treat nephrotic syndrome, considering the type of disease (steroid-sensitive or ­resistant) and the dosing regimen. Materials and methods: This multicenter retrospective study enrolled children with difficult-to-treat nephrotic syndrome on rituximab treatment from 13 centers. The patients were classified based on low (single dose of 375 mg/m2) or high (2-4 doses of 375 mg/m2) initial dose of rituximab and the steroid response. Clinical outcomes were compared. Results: Data from 42 children [20 steroid-sensitive (frequent relapsing / steroid-dependent) and 22 steroid-resistant nephrotic syndrome, aged 1.9­17.3 years] were analyzed. Eleven patients with steroid-sensitive nephrotic syndrome (55%) had a relapse following initial rituximab therapy, with the mean time to first relapse of 8.4 ± 5.2 months. Complete remission was achieved in 41% and 36% of steroid-resistant patients, with the median remission time of 3.65 months. At Year 2, eight patients in steroid-sensitive group (40%) and four in steroid-resistant group (18%) were drug-free. Total cumulative doses of rituximab were higher in steroid-resistant group (p = 001). Relapse rates and time to first relapse in steroid-sensitive group or remission rates in steroid-resistant group did not differ between the low and high initial dose groups. Conclusion: The current study reveals that rituximab therapy may provide a lower relapse rate and prolonged relapse-free survival in the steroid-sensitive group, increased remission rates in the steroid-resistant group, and a significant number of drug-free patients in both groups. The optimal regimen for initial treatment and maintenance needs to be determined.


Assuntos
Imunossupressores/uso terapêutico , Síndrome Nefrótica/tratamento farmacológico , Rituximab/uso terapêutico , Esteroides/uso terapêutico , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Recidiva , Estudos Retrospectivos , Resultado do Tratamento
10.
Pediatr Emerg Care ; 35(11): e203-e205, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31688804

RESUMO

Familial Mediterranean fever (FMF) is a recurrent disease with autosomal recessive trait and fever that is generally self-limiting. Clinical manifestations are pain in the abdomen, chest, and joints as a result of inflammation in the serous surfaces. No case of multiple intestinal perforations has been reported in children with FMF, whereas cases with a single intestinal perforation have been encountered, although very rarely. In addition, co-occurrence of FMF and inflammatory bowel disease is a situation that is very rarely reported in the literature. Here, we report a case of a 5-year-old girl who was being followed up with the diagnosis of FMF and who also had inflammatory bowel disease, which was complicated with multiple ileal perforations. Our aim is to point out a rarely encountered co-occurrence and also the importance of evaluation of additional diseases with FMF that are unresponsive to treatment so as to prevent complications.


Assuntos
Febre Familiar do Mediterrâneo/complicações , Doenças do Íleo/etiologia , Doenças Inflamatórias Intestinais/complicações , Perfuração Intestinal/etiologia , Pré-Escolar , Colchicina/efeitos adversos , Febre Familiar do Mediterrâneo/tratamento farmacológico , Feminino , Humanos , Doenças do Íleo/patologia , Doenças do Íleo/cirurgia , Perfuração Intestinal/cirurgia
11.
Pediatr Nephrol ; 33(6): 1093-1096, 2018 06.
Artigo em Inglês | MEDLINE | ID: mdl-29558000

RESUMO

BACKGROUND: Hemolytic uremic syndrome (HUS) is a clinical syndrome characterized by hemolytic anemia, thrombocytopenia, and acute kidney injury. Atypical hemolytic uremic syndrome (aHUS) is a devastating disease with significant mortality and high risk of progression to end-stage kidney disease. It is mostly caused by dysregulation of the alternative complement pathway. Cobalamin C (Cbl C) defect is a genetic disorder of cobalamin metabolism and is a rare cause of HUS. CASE-DIAGNOSIS/TREATMENT: We present a 6-month-old male infant who was admitted to the pediatric intensive care unit (PICU) due to restlessness, severe hypertension, anemia, respiratory distress, and acute kidney injury. Metabolic screening revealed elevated plasma homocysteine levels, low methionine levels, and methylmalonic aciduria, and the patient was diagnosed as having HUS secondary to Cbl C defect. Additionally, complement factor H (CFH) and complement C3 levels were decreased. The infant was treated with betaine, hydroxycobalamin, and folic acid. After treatment, the homocysteine and methylmalonic acid levels were normalized but hemolysis and acute kidney failure persisted. He required continued renal replacement treatment (CRRT) and plasma exchange due to thrombotic microangiopathy (TMA). Therefore, we considered a second mechanism in the pathogenesis as complement dysregulation and gave eculizumab to the patient. After eculizumab treatment, the renal and hematologic indices improved and he was free of dialysis. CONCLUSIONS: To the best of our knowledge, our patient is the first to have Cbl C defect-HUS accompanied by complement dysregulation, who responded well to eculizumab therapy.


Assuntos
Anticorpos Monoclonais Humanizados/uso terapêutico , Síndrome Hemolítico-Urêmica Atípica/diagnóstico , Homocistinúria/diagnóstico , Deficiência de Vitamina B 12/congênito , Síndrome Hemolítico-Urêmica Atípica/etiologia , Síndrome Hemolítico-Urêmica Atípica/terapia , Complemento C3 , Fator H do Complemento , Homocistinúria/complicações , Homocistinúria/terapia , Humanos , Lactente , Rim/patologia , Masculino , Troca Plasmática/métodos , Diálise Renal/métodos , Vitamina B 12/metabolismo , Vitamina B 12/uso terapêutico , Deficiência de Vitamina B 12/complicações , Deficiência de Vitamina B 12/diagnóstico , Deficiência de Vitamina B 12/terapia
12.
Pediatr Nephrol ; 33(12): 2371-2381, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30159625

RESUMO

BACKGROUND: This study aims to identify epidemiological and clinical characteristics of patients and report our experience with eculizumab treatment during an outbreak of hemolytic uremic syndrome (HUS) caused by Shiga toxin-producing Escherichia coli (STEC) in Istanbul in 2015. METHODS: Thirty-two children (21 females, median age 3.25 years) were included in this study. Demographic, clinical and laboratory data, and treatment details were retrospectively collected. Renal outcomes were assessed at last follow-up visit. To assess the effect of eculizumab on prognosis of STEC-HUS, subgroup analysis was performed on patients who required dialysis. RESULTS: A high number of cases occurred within a certain region of Istanbul. Stool samples were cultured from 21 patients (65%), and enteroaggregative E. coli (EAEC; n = 7) and enterohemorrhagic E. coli (EHEC; n = 3) strains were detected. Rates of dialysis treatment, neurological manifestations, and death were 59%, 25%, and 3%, respectively. Mean follow-up duration was 8.6 ± 2.6 months (range 3-12 months). None of the patients (n = 25) was on dialysis at the final visit. The complete renal recovery rate was 54%. Nine patients were treated with eculizumab. At final follow-up visit, no differences in estimated glomerular filtration rate, proteinuria level, or hypertension incidence were observed between patients treated with eculizumab and those not treated with eculizumab. CONCLUSIONS: An outbreak of EAEC occurred in a specific region of Istanbul. Livestock markets were suspected as the source. Evidence for beneficial effects of eculizumab on renal outcome was not clear in this cohort.


Assuntos
Anticorpos Monoclonais Humanizados/uso terapêutico , Surtos de Doenças/estatística & dados numéricos , Infecções por Escherichia coli/epidemiologia , Síndrome Hemolítico-Urêmica/epidemiologia , Doenças do Sistema Nervoso/epidemiologia , Escherichia coli Shiga Toxigênica/isolamento & purificação , Animais , Criança , Pré-Escolar , Infecções por Escherichia coli/microbiologia , Infecções por Escherichia coli/terapia , Infecções por Escherichia coli/transmissão , Feminino , Seguimentos , Síndrome Hemolítico-Urêmica/complicações , Síndrome Hemolítico-Urêmica/microbiologia , Síndrome Hemolítico-Urêmica/terapia , Humanos , Gado/microbiologia , Masculino , Doenças do Sistema Nervoso/microbiologia , Diálise Renal/estatística & dados numéricos , Estudos Retrospectivos , Taxa de Sobrevida , Resultado do Tratamento , Turquia
13.
Pediatr Nephrol ; 33(8): 1395-1403, 2018 08.
Artigo em Inglês | MEDLINE | ID: mdl-29610995

RESUMO

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/epidemiologia
14.
Neurourol Urodyn ; 36(3): 673-676, 2017 03.
Artigo em Inglês | MEDLINE | ID: mdl-26999796

RESUMO

PURPOSE: We aimed to evaluate the autonomic nervous system activity in children with overactive bladder (OAB) syndrome. METHODS: Included in the study were 40 children with overactive bladder and 28 healthy controls. Autonomic tests were performed on all participants, including heart rate interval variation (RRIV), heart rate response to valsalva maneuver, and sympathetic skin response (SSR). RESULTS: Mean valsalva rates in the overactive bladder and control groups were 1.53 ± 0.29 and 1.30 ± 0.18, respectively, a statistically significant difference (P < 0.001). Also significantly different were deep breathing RRIV values of the study and control groups: 56.65 ± 14.66 and 47.92 ± 10.15, respectively (P = 0.008). No statistical differences were found in SSR when OAB patients were compared with controls (P > 0.05). CONCLUSIONS: This study demonstrated a parasympathetic hyperactivity in children with OAB, results suggesting a dysfunction in their autonomic nervous systems. Neurourol. Urodynam. 36:673-676, 2017. © 2016 Wiley Periodicals, Inc.


Assuntos
Sistema Nervoso Autônomo/fisiopatologia , Resposta Galvânica da Pele/fisiologia , Frequência Cardíaca/fisiologia , Bexiga Urinária Hiperativa/fisiopatologia , Adolescente , Criança , Feminino , Humanos , Masculino , Tempo de Reação/fisiologia , Manobra de Valsalva
17.
J Pak Med Assoc ; 67(5): 799-801, 2017 May.
Artigo em Inglês | MEDLINE | ID: mdl-28507377

RESUMO

Congenital nephrotic syndrome is a term used to describe a condition in babies who develop severe proteinuria and hypoalbuminaemia within their first three months of life. They generally have oedema and ascites from birth which, because of increased intra-abdominal pressure, can result in an umbilical hernia. The report presents a five-month old infant with congenital nephrotic syndrome who had spontaneous umbilical hernia rupture with evisceration. The approach to umbilical hernias is usually conservative, but in selected cases elective surgery may be indicated.


Assuntos
Hérnia Umbilical/cirurgia , Síndrome Nefrótica/complicações , Ruptura Espontânea/cirurgia , Colo , Edema/etiologia , Feminino , Hérnia Umbilical/etiologia , Humanos , Lactente , Intestino Delgado
18.
Ren Fail ; 38(4): 545-51, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-26908058

RESUMO

Polymorphisms in the vitamin D receptor (VDR) gene have recently been reported to be associated with urinary calculi in pediatric and adult cases, but no studies have looked at the youngest period of life. The purpose of this study was to investigate the role of VDR gene polymorphisms in infantile urolithiasis in a Turkish population. We compared a study group of 104 infants (55 girls and 49 boys, mean age 6.94 ± 3.81 months) with a control group of 96 infants (51 girls and 45 boys, mean age 7.51 ± 3.23) to evaluate their demographics and metabolic risk factors. PCR-based restriction analysis of the polymorphisms on the VDR gene (BsmI and TaqI) showed statistically significant differences between study and control groups (p = 0.001 and 0.043, respectively). In addition, the prevalence of the BsmI genotype was significantly different between the hypercalciuric and normocalciuric stone formers (p = 0.007). Allelic frequencies were similar between the urolithiasis and control groups (p > 0.05). The B allele of BsmI and the A allele of ApaI were more prevalent in the hypercalciuric stone formers than in the normocalciuric stone formers (p = 0.018 vs.0.036, respectively). These results suggest that the BsmI and TaqI VDR genotypes could be candidate genes leading to infantile urolithiasis.


Assuntos
Polimorfismo Genético/genética , Receptores de Calcitriol/genética , Urolitíase/genética , Feminino , Genótipo , Humanos , Lactente , Masculino , Turquia
19.
J Pak Med Assoc ; 66(9): 1188-1190, 2016 09.
Artigo em Inglês | MEDLINE | ID: mdl-27654745

RESUMO

We report three paediatric cases of Kawasaki disease (KD). Erythema multiforme (EM) was the presenting cutaneous feature in two patients, with young age (43 days old), macular rash and meningitis in the third patient. Diagnosis of KD was difficult due either to initial misdiagnosis of drug eruption, incomplete presentation, or the young age of the patient. Clinicians should be aware of these cutaneous presentations to prevent KD complications.


Assuntos
Síndrome de Linfonodos Mucocutâneos/diagnóstico , Dermatopatias/etiologia , Erros de Diagnóstico , Eritema Multiforme , Humanos , Lactente , Pele
20.
Pediatr Nephrol ; 30(1): 139-44, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-24801174

RESUMO

BACKGROUND: Obesity is an important health issue, the prevalence of which is increasing in childhood. The aim of this study was to examine urinary renal injury markers in order to determine the renal effect of obesity and its comorbidities in a pediatric population. METHODS: Eighty-four obese children and 64 healthy control subjects were enrolled in the study. We checked their urine using N-acetyl-beta-D-glucosaminidase (NAG), neutrophil gelatinase-associated lipocalin (NGAL), kidney injury molecule-1 (KIM-1), and microalbumin as renal injury markers. Associations of renal damage markers with hypertension, an impaired glucose tolerance test, and insulin resistance were assessed. RESULTS: Obese individuals had higher urinary NAG and KIM-1 values compared to those of healthy controls (p = 0.027, p = 0.026). There was no difference in urinary NGAL between obese and lean subjects (p = 0.885). Urinary renal injury markers were not statistically different in the obese group when checked for impaired glucose tolerance, insulin resistance, and hypertension (p > 0.05). CONCLUSIONS: This study shows that urinary NAG and KIM-1 could be used as a screening method for detection of early renal damage in obese children.


Assuntos
Acetilglucosaminidase/urina , Biomarcadores/urina , Nefropatias/urina , Glicoproteínas de Membrana/urina , Obesidade/complicações , Proteínas de Fase Aguda/urina , Adolescente , Criança , Pré-Escolar , Estudos Transversais , Ensaio de Imunoadsorção Enzimática , Feminino , Receptor Celular 1 do Vírus da Hepatite A , Humanos , Nefropatias/etiologia , Lipocalina-2 , Lipocalinas/urina , Masculino , Proteínas Proto-Oncogênicas/urina , Receptores Virais
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