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OBJECTIVES: To investigate the severe haematological involvement in children with SLE and assess its clinical associations, treatments, outcome and damage accrual. METHODS: The medical charts of children with SLE in whom haematological involvement was observed were reviewed. Severe haematological indices were defined as autoimmune haemolytic anaemia with a haemoglobin concentration < 8 g/dL, thrombocyte count < 30 000/µL, and neutrophil count < 500/µL. RESULTS: Among the 224 patients included, 102 (45.5%) displayed severe indices, predominantly at the initial involvement, and most frequently as severe anaemia in 54 (24.1%) and severe thrombocytopenia in 45 (20.1%). Disease activity did not differ according to the presence of severe disease indices. In addition, the presence of severe indices at initial involvement did not affect the damage accrual. However, a higher rate of damage (51.1% vs. 29.9%, p = 0.002) and steroid-induced damage (28.9% vs. 8.2%, p < 0.001) was evident in patients with flares of the haematological system. Regression analysis revealed that rituximab treatment during the initial episode (OR:4.5, p = 0.006) and the presence of anticardiolipin antibodies (OR:2.3, p = 0.014) significantly increases the odds for haematological system flare. However, severe indices at initial involvement did not increase the odds of a haematological flare. CONCLUSION: Severe haematological indices at onset are common but not related with disease outcomes. Prevention of flares is important to improve outcomes, and a more rigorous maintenance strategy would benefit most to children who display haematological indices refractory to conventional immunosuppressants and those with anti-cardiolipin antibodies.
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BACKGROUND: Myelomeningocele (MMC) is highly prevalent in developing countries, and MMC-related neurogenic bladder is an important cause of childhood chronic kidney disease (CKD). This nationwide study aimed to evaluate demographic and clinical features of pediatric patients with MMC in Turkey and risk factors associated with CKD stage 5. METHODS: Data from children aged 0-19 years old, living with MMC in 2022, were retrospectively collected from 27 pediatric nephrology centers. Patients > 1 year of age without pre-existing kidney abnormalities were divided into five groups according to eGFR; CKD stages 1-5. Patients on dialysis, kidney transplant recipients, and those with eGFR < 15 ml/min/1.73 m2 but not on kidney replacement therapy at time of study constituted the CKD stage 5 group. RESULTS: A total of 911 (57.8% female) patients were enrolled, most of whom were expectantly managed. Stages 1-4 CKD were found in 34.3%, 4.2%, 4.1%, and 2.4%, respectively. CKD stage 5 was observed in 5.3% of patients at median 13 years old (range 2-18 years). Current age, age at first abnormal DMSA scan, moderate-to-severe trabeculated bladder on US and/or VCUG, and VUR history were independent risk factors for development of CKD stage 5 (OR 0.752; 95%; CI 0.658-0.859; p < 0.001; OR 1.187; 95% CI 1.031-1.367; p = 0.017; OR 10.031; 95% CI 2.210-45.544; p = 0.003; OR 2.722; 95% CI 1.215-6.102; p = 0.015, respectively). Only eight CKD stage 5 patients underwent surgery related to a hostile bladder between 1 and 15 years old. CONCLUSION: MMC-related CKD is common in childhood in Turkey. A proactive approach to neurogenic bladder management and early protective surgery in selected cases where conservative treatment has failed should be implemented to prevent progressive kidney failure in the pediatric MMC population in our country.
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Fallo Renal Crónico , Meningomielocele , Insuficiencia Renal Crónica , Vejiga Urinaria Neurogénica , Humanos , Niño , Femenino , Recién Nacido , Lactante , Preescolar , Adolescente , Adulto Joven , Adulto , Masculino , Meningomielocele/complicaciones , Meningomielocele/epidemiología , Estudios de Cohortes , Vejiga Urinaria Neurogénica/epidemiología , Vejiga Urinaria Neurogénica/etiología , Vejiga Urinaria Neurogénica/terapia , Estudios Retrospectivos , Diálisis Renal/efectos adversos , Insuficiencia Renal Crónica/diagnóstico , Insuficiencia Renal Crónica/epidemiología , Insuficiencia Renal Crónica/etiología , Fallo Renal Crónico/complicacionesRESUMEN
BACKGROUND: Peritoneal dialysis (PD) is the most common kidney replacement therapy in children. Complications associated with PD affect treatment success and sustainability. The aim of this study was to investigate the frequency of PD-related non-infectious complications and the predisposing factors. METHODS: Retrospective data from 11 centers in Turkey between 1998 and 2018 was collected. Non-infectious complications of peritoneal dialysis (NICPD), except metabolic ones, in pediatric patients with regular follow-up of at least 3 months were evaluated. RESULTS: A total of 275 patients were included. The median age at onset of PD and median duration of PD were 9.1 (IQR, 2.5-13.2) and 7.6 (IQR, 2.8-11.9) years, respectively. A total of 159 (57.8%) patients encountered 302 NICPD within the observation period of 862 patient-years. The most common NIPCD was catheter dysfunction (n = 71, 23.5%). At least one catheter revision was performed in 77 patients (28.0%). Longer PD duration and presence of swan neck tunnel were associated with the development of NICPD (OR 1.191; 95% CI 1.079-1.315, p = 0.001 and OR 1.580; 95% CI 0.660-0.883, p = 0.048, respectively). Peritoneal dialysis was discontinued in 145 patients; 46 of whom (16.7%) switched to hemodialysis. The frequency of patients who were transferred to hemodialysis due to NICPD was 15.2%. CONCLUSIONS: Peritoneal dialysis-related non-infectious complications may lead to discontinuation of therapy. Presence of swan neck tunnel and long duration of PD increased the rate of NICPD. Careful monitoring of patients is necessary to ensure that PD treatment can be maintained safely.
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Fallo Renal Crónico , Diálisis Peritoneal , Peritonitis , Niño , Humanos , Fallo Renal Crónico/epidemiología , Fallo Renal Crónico/terapia , Diálisis Peritoneal/efectos adversos , Peritoneo , Peritonitis/epidemiología , Peritonitis/etiología , Diálisis Renal , Estudios RetrospectivosRESUMEN
BACKGROUND: To evaluate the clinical features of patients with multicystic dysplastic kidney (MCDK). METHODS: The medical files of children diagnosed with MCDK between January 2008 and November 2015 were retrospectively reviewed. The demographic, clinical, laboratory and radiological data were evaluated. RESULTS: Of 128 children with MCDK enrolled in the study, 82 (64.1%) were male, and 46 (35.9%) were female (P < 0.05). MCDK were located on left and right sides in 66 (51.6%) and 62 children (48.4%), respectively (P > 0.05). Antenatal diagnosis was present in 64 patients (50%). The mean age at diagnosis was 2.8 ± 2.7 years (range, 0-8 years), and follow-up duration was 4.5 years. Fifteen patients (20.8%) had vesicoureteral reflux. Of these, four underwent endoscopic surgical correction. Other associated urological anomalies were ureteropelvic junction obstruction (n = 6), hypospadias (n = 1), and kidney stones (n = 1). On technetium-99 m dimercaptosuccinic acid scintigraphy, which was performed in all patients, no significant association between grade of reflux and presence of scarring was seen. Hypertension was diagnosed only in one child (0.8%) who required antihypertensive treatment. The prevalence of unilateral undescended testicle in children aged <1 year in the 82 male patients was 4.9%. Seventy-six patients (59.4%) developed compensatory hypertrophy in the contralateral kidney during a 1 year follow-up period. Of the total, only seven children (5.5%) had undergone nephrectomy. CONCLUSIONS: MCDK follows a benign course with relatively few sequelae, and therefore these patients should be closely followed up and conservatively managed.
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Riñón Displástico Multiquístico/diagnóstico , Niño , Preescolar , Tratamiento Conservador , Progresión de la Enfermedad , Femenino , Estudios de Seguimiento , Humanos , Lactante , Recién Nacido , Masculino , Riñón Displástico Multiquístico/complicaciones , Riñón Displástico Multiquístico/terapia , Pronóstico , Estudios RetrospectivosAsunto(s)
Proteinuria , Niño , Progresión de la Enfermedad , Humanos , Proteinuria/complicaciones , Proteinuria/etiologíaRESUMEN
BACKGROUND: Emphysematous cystitis (EC) and emphysematous pyelonephritis (EPN) are rare urinary tract infections. They have a wide spectrum of clinical manifestations; ranging from asymptomatic to septic shock at presentation. In children, EC and EPN are rare complications of urinary tract infections (UTIs). Their diagnosis is based on clinical manifestations, laboratory results and characteristic radiological findings of gas within the collecting system, renal parenchyma and/or perinephric tissue. Computed tomography is the best radiological option in the diagnosis of EC and EPN. Despite the availability of various treatment modalities including medical and/or surgical treatment alternatives, these life-threatening conditions have high mortality rates reaching up to 70 percent. CASE: Urinary tract infection was detected in the examinations of an 11-year-old female patient suffering from lower abdominal pain, vomiting and dysuria for two days. Air was detected in the bladder wall on X-ray. EC was detected in the abdominal ultrasonography. Air formations in the bladder lumen and calyces of both kidneys in abdominal computed tomography confirmed the presence of EPN. CONCLUSIONS: Individualized treatment should be instituted according to the severity of EC and EPN, and the overall health condition of the patient.
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Cistitis , Pielonefritis , Femenino , Niño , Humanos , Pielonefritis/complicaciones , Pielonefritis/diagnóstico por imagen , Cistitis/complicaciones , Cistitis/diagnóstico por imagen , Riñón , Vejiga Urinaria/diagnóstico por imagen , Dolor AbdominalRESUMEN
INTRODUCTION: Neuropsychiatric (NP) involvement is a restricted area in juvenile-onset systemic lupus erythematosus (jSLE). AIM: To investigate the prevalence, demographic and clinical features, and outcomes of the neurological involvement in the Turkish jSLE population. METHODS: This study was based upon 24 referral centers' SLE cohorts, multicenter and multidisciplinary network in Turkey. Patient data were collected by a case report form which was standardized for NP definitions according to American Collage of Rheumatology (ACR). Systemic Lupus International Collaborating Clinics/American College of Rheumatology Damage Index (SDI) neuropsychiatric part was used to determine NP damage. Variables were evaluated Ward's hierarchical clustering analyses, univariate, and multivariate logistic regression analyses. RESULTS: A hundred forty-nine of 1107 jSLE patients had NP involvement (13.5%). The most common NPSLE findings were headache (50.3%), seizure (38.3%), and acute confusional state (33.6%). Five clusters were identified with all clinical and laboratory findings. The first two clusters involved neuropathies, demyelinating diseases, aseptic meningitis, and movement disorder. Cluster 3 involved headache, activity markers and other SLE involvements. Idiopathic intracranial hypertension, cerebrovascular disease, cognitive dysfunction, psychiatric disorders and SLE antibodies were in the fourth, and acute confusional state was in the fifth cluster. In multivariate analysis, APA positivity; OR: 2.820, (%95CI: 1.002-7.939), P: 0,050, plasmapheresis; OR: 13.804 (%95CI: 2.785-68.432), P: 0,001, SLEDAI scores; OR: 1.115 (%95CI: (1.049-1.186), P: 0,001 were associated with increased risk for neurologic sequelae. CONCLUSION: We detected the prevalence of juvenile NPSLE manifestations in Turkey. We have identified five clusters that may shed light pathogenesis, treatment and prognosis of NP involvements. We also determined risk factors of neurological sequelae. Our study showed that new definitions NP involvements and sequelae for childhood period are needed.
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Lupus Eritematoso Sistémico , Humanos , Niño , Lupus Eritematoso Sistémico/complicaciones , Lupus Eritematoso Sistémico/diagnóstico , Lupus Eritematoso Sistémico/epidemiología , Cefalea/complicaciones , Cefalea/epidemiología , Factores de Riesgo , Progresión de la Enfermedad , Confusión/complicacionesRESUMEN
There are a few studies suggesting a relationship between celiac disease (CD) and kidney disease, but no study has investigated CD in patients with urolithiasis. In this study, we aimed to determine the prevalence of CD in infants and children with urolithiasis. One hundred and eighty-seven infants and children (4 months-17 years) with urolithiasis, and 278 age- and sex-matched healthy children were included. CD was screened using tissue transglutaminase (tTG) immunoglobulin (Ig)A. Seropositive cases, whose parents gave consent, underwent upper gastrointestinal system endoscopy for duodenal biopsy. Seven (3.7%) among those with urolithiasis and one (0.3%) among controls were positive for tTG IgA (p=0.008). Six of the urolithiasis group and one from the control group underwent upper gastrointestinal endoscopy. Intestinal biopsy revealed Marsh-Oberhuber type 1 intestinal lesions in two children. The other five had normal histology. Biopsy-proven CD was detected in two (1%) children with urolithiasis. The prevalence of biopsy-proven CD among all cases was 0.4%. When children were evaluated with respect to age factor, it was found that seropositivity in children younger and older than two years was not different (4% vs. 3.6%; p=0.880). In this first study investigating CD prevalence in children with urolithiasis, we found a higher seropositivity for CD in children with urolithiasis compared to controls, but in terms of biopsy-proven CD, no difference was found.
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Enfermedad Celíaca/epidemiología , Urolitiasis/epidemiología , Adolescente , Biopsia , Estudios de Casos y Controles , Distribución de Chi-Cuadrado , Niño , Preescolar , Endoscopía Gastrointestinal , Femenino , Humanos , Lactante , Masculino , Prevalencia , Estadísticas no Paramétricas , Turquía/epidemiologíaRESUMEN
OBJECTIVE: To assess the predictive value of procalcitonin, a serum inflammatory marker, in the identification of children with first urinary tract infection (UTI) who might have high-grade (≥3) vesicoureteral reflux (VUR). STUDY DESIGN: We conducted a meta-analysis of individual data, including all series of children aged 1 month to 4 years with a first UTI, a procalcitonin (PCT) level measurement, cystograms, and an early dimercaptosuccinic acid scan. RESULTS: Of the 152 relevant identified articles, 12 studies representing 526 patients (10% with VUR ≥3) were included. PCT level was associated with VUR ≥3 as a continuous (P = .001), and as a binary variable, with a 0.5 ng/mL preferred threshold (adjusted OR, 2.5; 95% CI, 1.1 to 5.4). The sensitivity of PCT ≥0.5 ng/mL was 83% (95% CI, 71 to 91) with 43% specificity rate (95% CI, 38 to 47). In the subgroup of children with a positive results on dimercaptosuccinic acid scan, PCT ≥0.5 ng/mL was also associated with high-grade VUR (adjusted OR, 4.8; 95% CI, 1.3 to 17.6). CONCLUSIONS: We confirmed that PCT is a sensitive and validated predictor strongly associated with VUR ≥3, regardless of the presence of early renal parenchymal involvement in children with a first UTI.
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Calcitonina/sangre , Precursores de Proteínas/sangre , Reflujo Vesicoureteral/diagnóstico , Péptido Relacionado con Gen de Calcitonina , Preescolar , Dilatación Patológica , Humanos , Lactante , Recién Nacido , Riñón/diagnóstico por imagen , Valor Predictivo de las Pruebas , Radiografía , Cintigrafía , Radiofármacos , Sensibilidad y Especificidad , Ácido Dimercaptosuccínico de Tecnecio Tc 99m , Ultrasonografía , Vejiga Urinaria/diagnóstico por imagen , Sistema Urinario/patología , Infecciones Urinarias/diagnósticoRESUMEN
Data on conservative treatment in children with urolithiasis are limited. The aim of the study was to determine the metabolic etiology and results of conservative treatment in children with urolithiasis. We evaluated the clinical presentation and metabolic features of 112 children with urolithiasis. The mean age at diagnosis of urolithiasis was 3.9 (range 0.1-18) years, and follow-up duration was 16.7 (range 1-36) months. The most common presenting symptoms were flank or abdominal pain and restlessness (25%). Urine analysis revealed metabolic abnormalities in 92% of cases, including hypocitraturia (42%), hyperoxaluria (32.1%), hypercalcuria (25%), hyperuricosuria (9.8%), and cystinuria (2.7%). Patients who had metabolic risk factors were treated according to underlying metabolic abnormalities. About half of these patients were stone free or stones were diminished in size. These results showed that early recognition and treatment of urinary metabolic abnormalities will reduce the number of invasive procedures and renal damage in children with urolithiasis.
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Trastornos del Metabolismo del Calcio/dietoterapia , Urolitiasis/dietoterapia , Adolescente , Trastornos del Metabolismo del Calcio/complicaciones , Trastornos del Metabolismo del Calcio/metabolismo , Niño , Preescolar , Ácido Cítrico/orina , Cistinuria/diagnóstico , Cistinuria/orina , Femenino , Humanos , Hipercalciuria/diagnóstico , Hipercalciuria/orina , Hiperoxaluria/diagnóstico , Hiperoxaluria/orina , Lactante , Masculino , Fosfatos/orina , Estudios Prospectivos , Factores de Riesgo , Resultado del Tratamiento , Ácido Úrico/orina , Urinálisis , Urolitiasis/complicaciones , Urolitiasis/metabolismoRESUMEN
The aim of this study was to investigate the levels of circulating endothelial microparticles (EMPs) in children with HSP and to determine whether there was a difference between patients with nephritis and those without nephritis. Twenty patients with HSP aged between 2.5 and 15 and 10 age-and sex-matched healthy controls were enrolled in the study. The HSP group was divided into two groups, including patients with nephritis (n = 9) and those without nephritis (n = 11). In all groups, circulating EMPs were enumerated by flow cytometry, after staining platelet-free plasma with PE-conjugated anti-CD144. At the same time, human umbilical vein endothelial cells (HUVEC) were incubated with the platelet-free plasma of patients with HSP and that of the control group. Then, circulating EMPs were counted in HUVEC supernatant incubated with the platelet-free plasma of patients and control groups, after staining the supernatant with PE-conjugated anti-CD146. Circulating EMPs were significantly higher in both the active and the remission period of the patient groups compared with the control subjects. In the patient group, there were no statistically significant differences in the level of circulating EMPs between patients with nephritis and those without nephritis. Both CD144 and 146+EMP in patients with HSP nephritis in the active period were substantially higher than in those remissions. CD144+EMP in the active period were substantially higher than in the remission period in patients without nephritis. We detected that circulating EMPs increased in patients with HSP in both active and remission periods. Although clinical and laboratory findings return to normal in the remission period, the increased circulating EMPs may show that the subclinical inflammatory process is continuous. We think that circulating EMPs could be used as a surrogate marker for subclinical inflammation in HSP.
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Micropartículas Derivadas de Células , Vasculitis por IgA/sangre , Adolescente , Antígenos CD/sangre , Biomarcadores/sangre , Antígeno CD146/sangre , Cadherinas/sangre , Niño , Femenino , Células Endoteliales de la Vena Umbilical Humana , Humanos , Masculino , Nefritis/sangreRESUMEN
BACKGROUND: The pathogenesis of edema in nephrotic syndrome is not entirely understood. The aim of this study was to contribute to the discussion on edema pathogenesis in nephrotic syndrome by following changes in volume and sodium retention for the course of the disease in children with steroid-sensitive nephrotic syndrome (SSNS). METHODS: Forty-one children with SSNS were included in the study. The patients were divided into three groups (group I: relapse-edematous; group II: relapse-edema free; group III: remission). We investigated the value of the significance and area of sodium retention and vasoactive hormones. In addition, we measured parameters such as inferior vena cava collapsibility index, left atrium diameter, and total body water (TBW) to determine the volume load and cause of edema in children with SSNS. RESULTS: TBW increased in the relapse-nephrotic syndrome group and the difference was statistically significant among groups (P < 0.001). However, inferior vena cava collapsibility index and left atrium diameter were not different among groups. Fractional sodium excretion was lower in children with relapse nephrotic syndrome (P < 0.05). CONCLUSION: Although TBW increases in children with SSNS, intravascular volume is normal. In addition, hypoalbuminemia and sodium retention of the proximal tubule cause edema in children with SSNS.
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Edema/etiología , Síndrome Nefrótico/fisiopatología , Sodio/metabolismo , Albúminas/metabolismo , Aldosterona/sangre , Factor Natriurético Atrial/sangre , Volumen Sanguíneo , Agua Corporal , Niño , Preescolar , Ecocardiografía Doppler en Color , Edema/metabolismo , Femenino , Atrios Cardíacos/anatomía & histología , Humanos , Masculino , Síndrome Nefrótico/complicaciones , Síndrome Nefrótico/terapia , Recurrencia , Renina/sangre , Vena Cava Inferior/fisiologíaRESUMEN
PURPOSE: To evaluate the clinical characteristics, including spectral domain optical coherence tomography (SD-OCT) findings, of pediatric-onset Behçet's disease (PBD) patients. METHODS: Medical records of 23 PBD (15 males and 8 females) and 24 (15 males and 9 females) healthy subjects were evaluated retrospectively. The main outcomes were compared between PBD patients, with and without ocular involvement, and healthy subjects. RESULTS: The mean age at onset was 12.00 ± 2.10 years. Mean follow-up period was 25.17 ± 15.36 months (range 6-48). Retinal vasculitis was the most common ocular finding (7 patients). Most of the complications of systemic treatment were associated with long term corticosteroid therapy. There was no significant difference between the mean retinal thickness of the PBD patients and healthy controls (p > 0.05). The mean choroidal thickness was significantly increased in all measured segments of PBD patients with ocular involvement (p < 0.01). CONCLUSION: Choroidal thickness of PBD patients with ocular involvement was significantly thicker compared to the PBD patients without ocular involvement and to healthy control subjects.
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Síndrome de Behçet/diagnóstico , Coroides/patología , Retina/patología , Tomografía de Coherencia Óptica/métodos , Adolescente , Niño , Femenino , Angiografía con Fluoresceína/métodos , Estudios de Seguimiento , Fondo de Ojo , Humanos , Masculino , Estudios RetrospectivosRESUMEN
BACKGROUND: Endothelial dysfunction is an important factor in the pathogenesis of atherosclerosis, and endothelial microparticles (EMPs) are considered as markers of endothelial dysfunction. In this study, we aimed to examine the relationship between EMPs and arterial stiffness and atherosclerosis in children with chronic kidney disease (CKD). METHODS: This cross-sectional study included 37 dialysis patients (12 haemodialysis, 25 peritoneal dialysis), 33 pre-dialysis patients and 18 healthy controls. Both in vivo and in vitro (HUVECs) evaluations were used for the study. Circulating EMPs were measured by flow cytometry. The carotid artery intima-media thickness (cIMT) and pulse wave velocity (PWV) were measured by using high-resolution ultrasound. Study groups were compared for circulating EMP, cIMT and PWV. The relationship between EMPs and arterial stiffness and atherosclerosis was evaluated. RESULTS: The levels of PWV, cIMT, CD144 + EMP and CD146 + EMP in the dialysis group were significantly higher than those in the pre-dialysis and control groups (P < 0.05). Additionally, the levels of cIMT, CD144 + EMP and CD146 + EMP in the pre-dialysis group were significantly higher than those in the control group (P < 0.05). In all CKD patients, the CD144 + EMP was significantly positively associated with blood pressures, age, known duration of disease, CRP and PTH, and was significantly negatively associated with haemoglobin, GFR and albumin. The CD146 + EMP was significantly positively associated with blood pressures, age and CRP. In a multiple linear regression analysis, in the CKD group, cIMT was independently related to mean blood pressure and dialysis duration. PWV was independently related to the CD144 + EMP and mean blood pressure. CONCLUSION: Our results suggest that endothelial damage starts in the early stage of CKD, that the endothelial dysfunction becomes overt with the increase of cardiovascular risk factors and that EMPs may be a reliable marker of the subclinical atherosclerosis and arterial stiffness.
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Aterosclerosis/fisiopatología , Arterias Carótidas/diagnóstico por imagen , Arterias Carótidas/patología , Endotelio Vascular/metabolismo , Fallo Renal Crónico/sangre , Túnica Media/diagnóstico por imagen , Resistencia Vascular , Adolescente , Presión Sanguínea , Estudios de Casos y Controles , Niño , Estudios Transversales , Endotelio Vascular/patología , Femenino , Citometría de Flujo , Humanos , Fallo Renal Crónico/patología , Fallo Renal Crónico/terapia , Masculino , Diálisis Peritoneal , Diálisis Renal , Túnica Media/patología , Ultrasonografía , Venas Umbilicales/citología , Venas Umbilicales/metabolismo , Uremia/sangre , Uremia/patología , Uremia/terapiaRESUMEN
BACKGROUND: Determining uric acid : creatinine ratios in random urine samples may be useful to assess the excretion of uric acid in children. Because it was shown that urinary uric acid excretion varies with age and geographic area, it is important to have accurate reference values of uric acid excretion. The aim of the present study was therefore to obtain regional reference values for urinary uric acid : creatinine ratios in healthy Turkish children. METHODS: A total of 1306 children aged 1 month-15 years were analyzed for uric acid and creatinine, and urinary uric acid : creatinine ratios were determined from each sample. The second non-fasting morning urine samples were taken from all the children. Urine samples were analyzed for uric acid using the uricase method, and for creatinine with the Jaffe reaction. RESULTS: The mean +/- SD and 5th-95th percentiles of urinary uric acid : creatinine ratios (mg/mg) were 1.09 +/- 0.48 and 0.27-1.87 at 1-6 months, 0.86 +/- 0.41 and 0.19-1.64 at 7-12 months, 0.76 +/- 0.32 and 0.32-1.43 at 1-3 years, 0.63 +/- 0.29 and 0.20-1.23 at 4-6 years, 0.44 +/- 0.24 and 0.14-0.93 at 7-11 years, and 0.30 +/- 0.14 and 0.12-0.62 at 12-15 years. Uric acid : creatinine ratios were not significantly different between boys and the girls except at 12-15 years. Girls aged 12-15 years had higher urinary uric acid : creatinine ratio when compared with boys (P < 0.05). There was no correlation between urinary uric acid : creatinine ratio and protein intake. CONCLUSIONS: Urinary uric acid : creatinine ratio changes with age. When assessing urinary uric acid : creatinine ratio, the clinician should consider the age of the child.
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Creatinina/orina , Ácido Úrico/orina , Adolescente , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Valores de Referencia , TurquíaRESUMEN
BACKGROUND: The aim of the present study was not only to review clinical and demographic features of child-onset familial Mediterranean fever (FMF) patients but also to investigate whether there is a phenotype-genotype correlation in the same patient population. METHODS: The medical records of 102 patients with FMF were retrospectively reviewed. Patients were classified into three groups according to mutations: group 1, Met694Val-Met694Val (homozygote); group 2, Met694Val-other; and group 3, other-other. These groups were compared with regard to gender, age of onset, age of diagnosis, time interval between disease onset and diagnosis, fever, abdominal pain, arthritis, chest pain, erysipelas-like erythema, edema, amyloidosis, number of attacks per year before and after treatment, consanguinity, severity score, response of colchicines treatment, and family history of FMF and amyloidosis. RESULTS: The presence of M694V homozygote was found to be associated with amyloidosis. Homozygosity for M694V was found in 46 patients (45%). CONCLUSIONS: M694V homozygosity is associated with phenotype II and amyloidosis compared to other common genotypes in patients with FMF. Despite current knowledge on FMF, prospective clinical studies with large numbers of patients and different ethnic groups will help us to clarify this considerable disease.
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Proteínas del Citoesqueleto/genética , Fiebre Mediterránea Familiar/genética , Fiebre Mediterránea Familiar/patología , Mutación/genética , Adolescente , Niño , Preescolar , Estudios de Cohortes , Fiebre Mediterránea Familiar/etnología , Femenino , Genotipo , Homocigoto , Humanos , Lactante , Masculino , Fenotipo , Pirina , Estudios Retrospectivos , TurquíaRESUMEN
OBJECTIVE: The objective was to investigate the clinical features and metabolic and anatomic risk factors for kidney stone formation in our patient group. METHODS: Between 1998 and 2005, 179 children (94 girls, 85 boys) followed in our department because of urolithiasis were enrolled to participate in our study. Clinical presentation, urinary tract infection, stone localisation, positive family history, stone composition, presence of anatomic abnormalities and urinary metabolic risk factors, and treatment modality were evaluated retrospectively. RESULTS: The mean age at diagnosis of stone disease was 4.5 years (range 0.25-15.3 years). The mean follow-up duration was 8 months (range 1-98). The major clinical presentations of our patients were abdominal pain and/or flank pain in 100 children (55.9%) and macroscopic hematuria in 25 (14%). Urinary tract infection was detected in 20% of patients on admission. Forty-three children (24%) had a urinary tract abnormality and ureteropelvic junction obstruction was the most common abnormality. A family history of stone disease was recorded in 98 patients (54.7%). Stones were located within the renal parenchyma in 90 patients. Hypercalciuria and hyperuricosuria were detected in 42.3 and 54.8% respectively. Stone analysis was performed in 63 children and calcium oxalate was a major mineral. Surgical treatment was performed in 49 children and extracorporeal shock wave lithotripsy (ESWL) in 41 children. CONCLUSION: We think that urolithiasis remains a serious problem in children in our country. Family history of urolithiasis, urologic abnormalities (especially under the age of 5 years), metabolic disorders and urinary tract infections tend to indicate childhood urolithiasis.
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Urolitiasis/etiología , Adolescente , Niño , Preescolar , Femenino , Estudios de Seguimiento , Humanos , Lactante , Riñón/anomalías , Riñón/anatomía & histología , Masculino , Estudios Retrospectivos , Factores de Riesgo , Prevención Secundaria , Urolitiasis/terapiaRESUMEN
GOALS: Although all children with nephrotic syndrome (NS) have similar biochemical abnormalities and clinical manifestations, they seem to have variable grades of steroid responsiveness and patterns of disease relapse. Therefore, this study aimed to examine whether steroid metabolism-related genetic polymorphisms, which are responsible for drug elimination, play a role for steroid response in children with NS. METHODS: The study population consisted of 53 children with idiopathic NS [45 steroid sensitive (SS) and 8 steroid resistant (SR) nephrotic patients] and 22 healthy children as the control group. The genetic polymorphisms of the multi-drug resistance-1 (MDR-1) and human cytochrome P450 3A (CYP3A4 and CYP3A5) genes were analyzed and compared between SS, SR and control groups. In addition, mutations in the podocin and nephrin genes were also investigated. RESULTS: There was no statistically significant difference between NS and control groups in terms of age and gender (P>0.05). Although the NS was more prevalent in boys (39/53, 73.6%), females were more dominant in the SR group (5/8, 62.5%). Serum urea and creatinine values were significantly higher in the SR group than in the SS group. Mutations in the podocin and nephrin genes were not different between the groups (P>0.05). In addition, no difference was found between the groups in regard to the polymorphisms of the MDR-1, CYP3A4 and CYP3A5 genes (P>0.05). CONCLUSION: These results showed that the polymorphisms of the MDR-1, CYP3A4 and CYP3A5 genes were not associated with steroid response.
Asunto(s)
Citocromo P-450 CYP3A/genética , Predisposición Genética a la Enfermedad , Síndrome Nefrótico/tratamiento farmacológico , Síndrome Nefrótico/genética , Polimorfismo Genético , Esteroides/uso terapéutico , Subfamilia B de Transportador de Casetes de Unión a ATP/genética , Adolescente , Niño , Preescolar , Demografía , Femenino , Frecuencia de los Genes/genética , Humanos , Lactante , MasculinoRESUMEN
BACKGROUND: The aim of present study was to evaluate the indications, complications and outcomes of acute peritoneal dialysis (APD) in neonates at a referral university hospital during the previous 8 years. METHODS: This retrospective analysis included a total of 52 newborn infants who underwent APD in a neonatal intensive care unit between January 2008 and March 2016. Demographic, clinical, laboratory and microbiological data were extracted from patients' medical files. RESULTS: The primary causes for requiring APD were acute tubular necrosis (n = 36, 69.2%), inborn error of metabolism (n = 10, 19.2%), congenital nephrotic syndrome (n = 2, 3.9%), bilateral polycystic kidney (n = 2, 3.9%), renal agenesis (n = 1, 1.9%), and obstructive uropathy (n = 1, 1.9%). The mean duration of APD was 8.7 ± 15.87 days (range: 1-90 days). Procedural complications were mainly hyperglycemia (n = 16, 47.1%), dialysate leakage (n = 7, 20.6%), peritonitis (n = 3, 8.8%), catheter obstruction (n = 3, 8.8%), bleeding at the time of catheter insertion (n = 2, 5.9%), catheter exit site infection (n = 2, 5.9%), and bowel perforation (n = 1 2.9%). There were 40 deaths (76.9%), mainly due to underlying causes. Ten of the 12 survivors showed full renal recovery, but mild chronic renal failure (n = 1) and proteinuria with hypertension were seen (n = 1) in each of remaining patients. CONCLUSION: Peritoneal dialysis is an effective route of renal replacement therapy in the neonatal period for management of metabolic disturbances as well as renal failure. Although major complications of the procedure are uncommon, these patients still have a high mortality rate due to serious nature of the underlying primary causes.