RESUMO
BACKGROUND: Juvenile idiopathic arthritis (JIA) is the most common rheumatic disease of childhood. The JIA-associated uveitis represents the most common extra-articular manifestation. OBJECTIVES: The main aim of this study was to evaluate frequency and risk factors of uveitis in a pediatric population affected by JIA. METHODS: One hundred eight Italian children with JIA were followed during a follow-up period of 13 years. Association between uveitis, antinuclear antibodies (ANAs), and subtype of arthritis has been estimated, and Kaplan-Meier curves were generated to assess the probability of ocular complications during the follow-up period. RESULTS: Twenty-one patients developed uveitis, after 96.5 ± 50.4 months from the enrollment. According to JIA subtypes, the oligoarthritis subtype was characterized by the highest prevalence (39%) of uveitis. The greatest risk of uveitis has been detected in oligoarthritis patients associated to ANA positivity (risk ratio, 8.6; 95% confidence interval, 2.27-32.9; χ = 20.4), whereas the worst evolution was revealed in patients with oligoarthritis and high levels of ANAs, with a progression time of 36 months (log-rank χ = 16.39; p < 0.0001; risk ratio, 18; 95% confidence interval, 7.3-44.2). CONCLUSIONS: Patients with early-onset ANA-positive oligoarticular JIA have the highest risk of developing uveitis. A routine ophthalmological follow-up is required at regular intervals, even though the joint disease is clinically quiescent.
Assuntos
Artrite Juvenil , Uveíte , Artrite Juvenil/complicações , Artrite Juvenil/diagnóstico , Artrite Juvenil/epidemiologia , Criança , Seguimentos , Humanos , Itália/epidemiologia , Fatores de Risco , Uveíte/diagnóstico , Uveíte/epidemiologia , Uveíte/etiologiaRESUMO
BACKGROUND: Peritonitis, the most important limitation of peritoneal dialysis (PD), could be detected by biomarkers in dialysate effluent, representing a noninvasive method to indirectly assess the peritoneum status. The aim of our study was to test high mobility group box 1 (HMGB1) in PD patients, evaluating its role as precocious marker of peritoneum damage during peritonitis. Transforming growth factor (TGF)-ß was correlated with peritoneal transport characteristics. METHODS: Six patients, treated by ambulatory PD, were enrolled. Samples were collected at the onset of peritonitis (T1) and every day until its resolution (T-end). Serum (s) and peritoneal (p) white blood cell (WBC) count was also evaluated. Peritoneal Equilibration Test evaluated the filter activity of peritoneum. RESULTS: In patients with acute peritonitis, the highest serum and peritoneal HMGB1 values (64 ± 3.6 and 70 ± 5.3 ng/mL, respectively) were assessed, with a progressive decrease of their levels at the resolution time (T-end: sHMGB1:36 ± 2.5; pHMGB1:30.5 ± 7.0 ng/mL). While no differences of sWBC and pWBC were observed between baseline and T-end values, pHMGB1 levels remained higher at T-end than those observed at T0 (pHMGB1:30.5 ± 7.0 versus 6.9 ± 3.6; p < 0.0001). TGF-ß levels were higher in patients with low peritoneal permeability than in medium or high transporter patients (81 ± 15.5 versus 24.3 ± 7.5 pg/mL; p = 0.01). An inverse correlation was found between TGF-ß levels and dialysate/plasmatic creatinine values (r = -0.83; p = 0.03). CONCLUSION: HMGB1 represents a useful biomarker for peritoneum evaluation in PD patients. A prognostic role of this alarmin, as a marker of response to therapy, could be hypothesized. TGF-ß could predict the peritoneal transport status and dialysis technique adequacy.
Assuntos
Proteína HMGB1/sangue , Falência Renal Crônica/terapia , Diálise Peritoneal , Peritonite/etiologia , Fator de Crescimento Transformador beta/sangue , Adolescente , Biomarcadores/sangue , Criança , Pré-Escolar , Progressão da Doença , Feminino , Humanos , Falência Renal Crônica/metabolismo , Masculino , Peritonite/sangue , PrognósticoRESUMO
BACKGROUND: The optimal therapeutic regimen for managing childhood idiopathic nephrotic syndrome (INS) is still under debate. We have evaluated the choice of steroid regimen and of symptomatic treatment adopted by pediatricians and pediatric nephrologists in a large number of centers as the first step towards establishing a shared protocol METHODS: This was a multicenter, retrospective study. A total of 231 children (132 admitted to pediatric units) aged 6 months to <15 years who presented with onset of nephrotic syndrome to 54 pediatric units and six pediatric nephrology units in Italy between 2007 and 2009 were eligible for entry into the study. RESULTS: Median steroid dosing was 55 (range 27-75) mg/m(2)/day. The overall median cumulative dose regimen for the first episode was 3,440 (1,904-6,035) mg/m(2), and the median duration of the therapeutic regimen was 21 (9-48) weeks. The total duration and cumulative steroid dose were significantly higher in patients treated by pediatricians than in those treated by pediatric nephrologists (p = 0.001 and p = 0.008). Among the patient cohort, 55, 64 and 22 % received albumin infusions, diuretics and acetyl salicylic acid treatment, respectively, but the laboratory and clinical data did not differ between children treated or not treated with symptomatic drugs. Albumin and diuretic use did not vary between patients in pediatric units and those in pediatric nephrology units. CONCLUSIONS: This study shows major differences in steroid and symptomatic treatment of nephrotic syndrome by pediatricians and pediatric nephrologists. As these differences can influence the efficacy of the treatments and the appearance of side-effects, shared guidelines and their implementation through widespread educational activities are necessary.
Assuntos
Síndrome Nefrótica/tratamento farmacológico , Pediatria/normas , Guias de Prática Clínica como Assunto/normas , Padrões de Prática Médica/estatística & dados numéricos , Adolescente , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Humanos , Lactente , Masculino , Estudos RetrospectivosRESUMO
AIM: We report a case of Gitelman Syndrome (GS) in a 9-year-old girl, previously diagnosed as a Bartter syndrome at one year of life. METHODS: She had been treated with potassium, for over 8 years and was admitted because of fatigue, numbness and weakness of both legs. The patient has typical laboratory findings, including hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria, thus GS was suspected. RESULTS: Genetic analysis was performed two mutations IVS9(+1)G>T were detected in the thiazide-sensitive Na-Cl cotransporter (TSC) gene (SLC12A3), thus she was diagnosed as having GS. She was treated with oral potassium and magnesium supplements with resolution of the symptoms. CONCLUSION: This case reminded us that doctors should be alert to the initial presentation of renal tubular diseases. Detailed electrolyte analysis, hormone evaluations and clinic follow-up are mandatory for their correct differential diagnosis.
Assuntos
Insuficiência de Crescimento/etiologia , Síndrome de Gitelman/diagnóstico , Hipopotassemia/fisiopatologia , Síndrome de Bartter/diagnóstico , Síndrome de Bartter/etiologia , Síndrome de Bartter/fisiopatologia , Criança , Diagnóstico Diferencial , Feminino , Síndrome de Gitelman/complicações , Síndrome de Gitelman/etiologia , Síndrome de Gitelman/fisiopatologia , HumanosRESUMO
In developed countries, scurvey is quite rare and can be seen in children with severely restricted diets, related to psychiatric or developmental problems. Clinical presentation can include arthralgias/arthritis, myalgias, hemarthrosis, purpura and ecchymosis. We report two cases of nutritional vitamin C deficiency, who have been misdiagnosed as having rheumatologic diseases, and promptly resolved with vitamin C treatment. Both patents did not have the classic radiological features described in scurvey, such as the Wimberger ring or the white lines of Frankel. Magnetic resonance imaging clearly showed areas of hemorrhage at bony and subperiasteal level. This imaging procedure, therefore, should be recommended especially in the doubtful cases. The two patients described herein should alert pediatricians to consider scurvey although rare, as a potential source of "rheumatological" manifestations in children, especially in the industrialized countries where in appropriate vitamin intake is often underestimated.
Assuntos
Artrite Juvenil/diagnóstico , Gengiva/fisiopatologia , Hemorragia/diagnóstico , Deficiência de Ácido Ascórbico/complicações , Deficiência de Ácido Ascórbico/diagnóstico , Criança , Pré-Escolar , Diagnóstico Diferencial , Erros de Diagnóstico , Humanos , Masculino , Escorbuto/diagnóstico , Escorbuto/fisiopatologiaRESUMO
Dense deposit disease or membranoproliferative glomerulonephritis type II is a rare glomerulopathy characterized on renal biopsy by deposition of abnormal electron-dense material in the glomerular basement membrane. The pathophysiologic basis is uncontrolled systemic activation of the alternate pathway of the complement cascade. C3 nephritic factor, an autoantibody directed against the C3 convertase of the alternate pathway, plays a key role. In some patients, complement gene mutations have been identified. We report the case of a child who had persistent microscopic hematuria, proteinuria, and hypocomplementemia C3 for over 2 months. Renal biopsy confirmed the diagnosis of dense deposit disease.
Assuntos
Complemento C3/imunologia , Febre/etiologia , Glomerulonefrite Membranoproliferativa/complicações , Glomérulos Renais/imunologia , Faringite/etiologia , Biópsia , Criança , Ativação do Complemento , Complemento C3/deficiência , Fator Nefrítico do Complemento 3/imunologia , Diagnóstico Diferencial , Imunofluorescência , Glomerulonefrite Membranoproliferativa/diagnóstico , Glomerulonefrite Membranoproliferativa/imunologia , Glomerulonefrite Membranoproliferativa/terapia , Humanos , Glomérulos Renais/ultraestrutura , Masculino , Microscopia Eletrônica , Valor Preditivo dos TestesRESUMO
We report a case of a 3-year-old North African child, initially assessed for nonspecific urinary symptoms such as haematuria and burning urination. The ultrasound evaluation showed a vegetating mass occupying the lumen with weak vascular signs at the Colour-Doppler evaluation. An explorative cystoscopy was performed and it revealed a nonbleeding lesion, white in colour, pedunculated, projecting into the lumen, and associated with a brown satellite formation. Histological examination showed a mixed Botryoid and Spindle Cell Rhabdomyosarcoma. This mixed histology has not been described before and no statistical data are reported in literature so far. Despite the Embryonal Rhabdomyosarcoma variant being the most common, the association characterized by two histological Rhabdomyosarcoma subtypes such as Botryoid and Spindle Cell is rarely observed and it is important to get an accurate histological diagnosis in order to immediately start the correct treatment protocol.
RESUMO
This consensus document is aimed at providing an updated, multidisciplinary overview on the diagnosis and treatment of pediatric nephrotic syndrome (NS) at first presentation. It is the first consensus document of its kind to be produced by all the pediatric nephrology centres in Italy, in line with what is already present in other countries such as France, Germany and the USA. It is based on the current knowledge surrounding the symptomatic and steroid treatment of NS, with a view to providing the basis for a separate consensus document on the treatment of relapses. NS is one of the most common pediatric glomerular diseases, with an incidence of around 2-7 cases per 100000 children per year. Corticosteroids are the mainstay of treatment, but the optimal therapeutic regimen for managing childhood idiopathic NS is still under debate. In Italy, shared treatment guidelines were lacking and, consequently, the choice of steroid regimen was based on the clinical expertise of each individual unit. On the basis of the 2015 Cochrane systematic review, KDIGO Guidelines and more recent data from the literature, this working group, with the contribution of all the pediatric nephrology centres in Italy and on the behalf of the Italian Society of Pediatric Nephrology, has produced a shared steroid protocol that will be useful for National Health System hospitals and pediatricians. Investigations at initial presentation and the principal causes of NS to be screened are suggested. In the early phase of the disease, symptomatic treatment is also important as many severe complications can occur which are either directly related to the pathophysiology of the underlying NS or to the steroid treatment itself. To date, very few studies have been published on the prophylaxis and treatment of these early complications, while recommendations are either lacking or conflicting. This consensus provides indications for the prevention, early recognition and treatment of these complications (management of edema and hypovolemia, therapy and prophylaxis of infections and thromboembolic events). Finally, recommendations about the clinical definition of steroid resistance and its initial diagnostic management, as well as indications for renal biopsy are provided.
Assuntos
Corticosteroides/administração & dosagem , Síndrome Nefrótica/diagnóstico , Síndrome Nefrótica/tratamento farmacológico , Guias de Prática Clínica como Assunto , Criança , Pré-Escolar , Consenso , Relação Dose-Resposta a Droga , Esquema de Medicação , Feminino , Humanos , Itália , Masculino , Síndrome Nefrótica/mortalidade , Prognóstico , Recidiva , Retratamento , Sociedades Médicas , Taxa de Sobrevida , Resultado do TratamentoAssuntos
Febre de Causa Desconhecida/etiologia , Síndrome de Linfonodos Mucocutâneos/diagnóstico , Síndrome de Linfonodos Mucocutâneos/tratamento farmacológico , Pneumonia/etiologia , Anti-Inflamatórios/uso terapêutico , Pré-Escolar , Conjuntivite/etiologia , Doença das Coronárias/etiologia , Feminino , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Fatores Imunológicos/uso terapêutico , Metilprednisolona/uso terapêutico , Síndrome de Linfonodos Mucocutâneos/complicações , Derrame Pleural/etiologia , Trombocitose/etiologiaRESUMO
BACKGROUND: Plasma homocysteine, a new cardiovascular risk factor in both children and adults, is higher in chronic renal failure or kidney transplant patients. This alteration has been linked, in chronic renal failure, to plasma protein damage, represented by increased L-isoaspartyl residues. We measured plasma homocysteine levels and plasma protein damage in pediatric patients from four different Italian regions with conservatively treated renal failure; hemodialysis, continuous ambulatory peritoneal dialysis (CAPD), or transplants, to establish the presence of protein damage and the relative role of hyperhomocysteinemia. METHODS: High performance liquid chromatography (HPLC) separation measured total plasma homocysteine levels, using precolumn derivatization with ammonium 7-fluorobenzo-2-oxa-1, 3-diazole-4-sulphonate (SBD-F). Plasma protein L-isoaspartyl residues were quantitated using human recombinant protein carboxyl methyl transferase (PCMT). RESULTS: In all patient groups, homocysteine levels were significantly higher with respect to the control (Control: 6.87 +/- 0.73 microM) conservatively treated, 14.19 +/- 1.73 microM; hemodialysis, 27.03 +/- 4.32 microM; CAPD, 22.38 +/- 3.73 microM; transplanted, 20.22 +/- 2.27 microM, p < 0.001 vs. control]. Plasma protein damage was significantly higher in conservatively treated, hemodialysis (HD) and CAPD patients, while in transplant patients it was no different from the control. CONCLUSIONS: We concluded that in pediatric patients of different Italian geographical origin, plasma homocysteine levels were significantly higher in all groups with respect to healthy children; therefore contributing to the elevated cardiovascular risk present in these patients. Plasma protein L-isoaspartyl content was higher in renal failure patients, but kidney transplant patients had normal levels, indicating that this kind of protein damage relates more to the toxic action of uremic retention solutes, than to plasma homocysteine levels.
Assuntos
Proteínas Sanguíneas/metabolismo , Hiper-Homocisteinemia/diagnóstico , Falência Renal Crônica/terapia , Transplante de Rim/efeitos adversos , Diálise Peritoneal Ambulatorial Contínua/efeitos adversos , Diálise Renal/efeitos adversos , Distribuição por Idade , Proteínas Sanguíneas/análise , Nitrogênio da Ureia Sanguínea , Estudos de Casos e Controles , Criança , Pré-Escolar , Cromatografia Líquida de Alta Pressão , Creatinina/análise , Feminino , Humanos , Hiper-Homocisteinemia/epidemiologia , Hiper-Homocisteinemia/etiologia , Incidência , Falência Renal Crônica/diagnóstico , Falência Renal Crônica/mortalidade , Masculino , Diálise Peritoneal Ambulatorial Contínua/métodos , Estudos Prospectivos , Valores de Referência , Diálise Renal/métodos , Medição de Risco , Sensibilidade e Especificidade , Índice de Gravidade de Doença , Distribuição por Sexo , Análise de SobrevidaRESUMO
Vitamin D (VitD) intoxication, a well-known cause of hypercalcaemia in children, has renal, cardiac and neurological consequences. Iatrogenic or accidental administrations are the most common causes. We present two cases of hypervitaminosis D due to over-the-counter VitD supplement self-medication. A 12-year-old boy was hospitalised for abdominal pain, constipation and vomiting. Routine biochemistry indicated severe hypercalcaemia and renal failure. Plasma 25-OH VitD level was very high and parathyroid hormone was suppressed. Renal ultrasound showed nephrolithiasis. Hydration, diuretics and prednisone induced a progressive reduction of calcium levels. His brother, who was receiving the same treatment, was hospitalised although asymptomatic. Normal serum calcium and renal function were revealed, while 25-OH VitD was high and parathyroid hormone was suppressed. Renal ultrasound was within the normal range. Examination of the VitD content of the over-the-counter supplement revealed a higher amount than declared. VitD administration implies several risks and must be prescribed only when needed and under strict medical control.
Assuntos
Suplementos Nutricionais/efeitos adversos , Hipercalcemia/induzido quimicamente , Vitamina D/toxicidade , Injúria Renal Aguda/induzido quimicamente , Adolescente , Criança , Humanos , Masculino , Nefrolitíase/induzido quimicamente , Hormônio Paratireóideo/sangue , Irmãos , Vitamina D/sangueRESUMO
Joubert syndrome (JBTS), related disorders (JSRDs) and Meckel syndrome (MKS) are ciliopathies. We now report that MKS2 and CORS2 (JBTS2) loci are allelic and caused by mutations in TMEM216, which encodes an uncharacterized tetraspan transmembrane protein. Individuals with CORS2 frequently had nephronophthisis and polydactyly, and two affected individuals conformed to the oro-facio-digital type VI phenotype, whereas skeletal dysplasia was common in fetuses affected by MKS. A single G218T mutation (R73L in the protein) was identified in all cases of Ashkenazi Jewish descent (n=10). TMEM216 localized to the base of primary cilia, and loss of TMEM216 in mutant fibroblasts or after knockdown caused defective ciliogenesis and centrosomal docking, with concomitant hyperactivation of RhoA and Dishevelled. TMEM216 formed a complex with Meckelin, which is encoded by a gene also mutated in JSRDs and MKS. Disruption of tmem216 expression in zebrafish caused gastrulation defects similar to those in other ciliary morphants. These data implicate a new family of proteins in the ciliopathies and further support allelism between ciliopathy disorders.
Assuntos
Anormalidades Múltiplas/genética , Cílios/patologia , Proteínas de Membrana/genética , Mutação , Anormalidades Múltiplas/patologia , Sequência de Aminoácidos , Animais , Sequência de Bases , Linhagem Celular , Consanguinidade , Embrião de Mamíferos/embriologia , Embrião de Mamíferos/metabolismo , Gastrulação/genética , Regulação da Expressão Gênica no Desenvolvimento , Predisposição Genética para Doença , Proteínas de Fluorescência Verde/genética , Proteínas de Fluorescência Verde/metabolismo , Humanos , Hibridização In Situ , Judeus/genética , Microscopia Confocal , Dados de Sequência Molecular , Linhagem , Polimorfismo de Nucleotídeo Único , Interferência de RNA , Síndrome , Peixe-Zebra/embriologia , Peixe-Zebra/genéticaRESUMO
Takayasu's arteritis is a systemic vasculitis predominantly affecting the aorta and its major branches. We report a 14-year-old girl in whom incidentally a deep upper limb vein thrombosis was found. She was referred to the emergency unit due to swelling and intermittent cyanosis of the right arm following an axillary depilatory wax. High-resolution echo colour Doppler ultrasonography showed a deep vein thrombosis with thickening of the proximal common carotids. A diagnosis of type IIb Takayasu's arteritis was made. The patient's history revealed fatigue, myalgia and headache. Immunosuppressive treatment and anticoagulation were introduced with a rapid and sustained improvement.
RESUMO
BACKGROUND: Chronic kidney diseases (CKD) tend to progress to end-stage renal failure (ESRF). As it has been demonstrated that angiotensin-converting enzyme inhibitors (ACEi) have a renoprotective effect in adults with proteinuric disease and may be effective in reducing hyperfiltration and proteinuria, they are also frequently used as anti-progression agents in paediatric patients with CKD despite the lack of data confirming their role in the nephropathies peculiar to children. The aim of this study was to investigate whether patients with hypodysplastic CKD (the most common cause of ESRF in children) treated with ACEi show a significantly slower decline in creatinine clearance (Ccr). METHODS: The analysis was based on the information available in the database of the ItalKid Project, a nationwide, population-based registry of chronic renal insufficiency (CRI) in children in Italy. Of the 822 patients with CRI due to hypodysplasia, we selected those who had been continuously treated with ACEi; the control patients were identified from the same diagnostic group and matched for gender, age and baseline Ccr. RESULTS: Progression was analysed as the slope of Ccr in a total of 164 patients: 41 cases and 123 matched controls. There were no significant between-group differences in blood pressure, duration of follow-up or pre-study slope of Ccr (-0.31+/-2.26 vs -0.33+/-3.58 ml/min/1.73 m2/year; P=NS). After an average of 4.9+/-2.3 years, the mean slope of Ccr was 40% lower in the ACEi-treated cases in comparison to controls (-1.08+/-2.08 vs -1.80+/-4.42 ml/min/1.73 m2/year), however, this difference was not statistically significant (P=0.31). CONCLUSIONS: We conclude that ACEi treatment does not significantly modify the naturally progressive course of hypodysplastic nephropathy in children and further studies are necessary before such treatment is routinely proposed for anti-progression purposes in children with CKD.
Assuntos
Inibidores da Enzima Conversora de Angiotensina/uso terapêutico , Bases de Dados Factuais , Falência Renal Crônica/complicações , Falência Renal Crônica/tratamento farmacológico , Nefrite/complicações , Adolescente , Adulto , Inibidores da Enzima Conversora de Angiotensina/farmacologia , Pressão Sanguínea/efeitos dos fármacos , Estudos de Casos e Controles , Criança , Creatinina/metabolismo , Diástole/efeitos dos fármacos , Progressão da Doença , Feminino , Humanos , Itália , Falência Renal Crônica/fisiopatologia , Testes de Função Renal , Masculino , Sístole/efeitos dos fármacos , Resultado do TratamentoRESUMO
BACKGROUND: Contrast-enhanced voiding urosonography (VUS) is largely accepted both for the diagnosis and follow-up of vesicoureteric reflux (VUR) in children. OBJECTIVE: To evaluate the usefulness of contrast-enhanced second-harmonic VUS in the diagnosis and grading of VUR, using a second-generation contrast agent. MATERIALS AND METHODS: Eighty consecutive children were prospectively studied with contrast-enhanced second-harmonic VUS. All children received a second-generation contrast medium, constituted by phospholipid-stabilized microbubbles of sulphur-hexafluoride (SonoVue, Bracco, Milan, Italy). US monitoring of the bladder, of the retrovesical space and of the kidneys was performed using, alternatively, both tissue-harmonic and contrast-harmonic modes. In those young boys where VUR was depicted at VUS, examination was completed with transperineal, sagittal urethral exploration during micturition. VUR was graded in five steps and diagnoses were compared with voiding cystourethrography (VCUG). RESULTS: VUR was diagnosed in 52 reno-ureteral units with VUS. In 49 of these reno-ureteral units, VCUG confirmed the presence of VUR. In comparison to VUS, sensitivity and negative predictive value of VCUG were inferior. The grade of VUR detected at VUS was higher than that detected at VCUG in three units. In no case was the grade of VUR detected at VCUG higher than the one detected at VUS. The differences between VUS and VCUG in grading VUR were statistically significant (p=0.02). Imaging of the normal posterior urethra was skilfully demonstrated with US in 15 young boys with VUR. No statistically significant differences were found between tissue-harmonic and contrast-harmonic mode (p=0.102). CONCLUSIONS: Contrast-enhanced second-harmonic VUS is a sensitive and easy technique for the evaluation of VUR. A second-generation US contrast medium such as SonoVue, if available, should be the first choice as the dose required for one examination is much lower and consequently significant reduction of contrast agent cost is possible.
Assuntos
Fosfolipídeos , Hexafluoreto de Enxofre , Refluxo Vesicoureteral/diagnóstico por imagem , Pré-Escolar , Meios de Contraste , Feminino , Humanos , Lactente , Masculino , Valor Preditivo dos Testes , Estudos Prospectivos , Sensibilidade e Especificidade , Estatísticas não Paramétricas , UltrassonografiaRESUMO
Our aim was to compare contrast-enhanced color Doppler voiding urosonography (VUS) and direct radionuclide voiding cystography (DRVC) to determine the usefulness of ultrasonography (US) in the detection and grading of vesicoureteral reflux (VUR). In this study, the two techniques were performed simultaneously on a group of 64 children referred for the evaluation of VUR. DRVC detected VUR in 54/128 ureterorenal units, and VUS confirmed reflux in 44 (81%). Only in two cases was the reflux not confirmed by DRVC (97% specificity). Ten units with minimal grade I VUR detected by DRVC were not identified by VUS. For identification of grade II and III reflux, sensitivity of VUS reached 100%. Ten units with grade I VUR at DRVC presented grade II at VUS. Eleven units with grade II VUR at DRVC presented grade III at VUS. In conclusion, contrast-enhanced VUS is a useful diagnostic tool for the detection of VUR in children. Our data suggest a higher diagnostic accuracy of urosonography compared to radionuclide cystography in the determination of the grade of VUR; this may have significant consequences on the management of young patients affected by VUR.
Assuntos
Ultrassonografia Doppler em Cores , Refluxo Vesicoureteral/diagnóstico por imagem , Criança , Pré-Escolar , Meios de Contraste , Feminino , Humanos , Lactente , Masculino , Cintilografia , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Ultrassonografia Doppler em Cores/normas , Infecções Urinárias/diagnóstico por imagemRESUMO
Angiotensin I-converting enzyme (ACE) and angiotensin type 2 receptor (AT2R) gene polymorphisms have been associated with an increased incidence of congenital anomalies of the kidney and urinary tract (CAKUT). We investigated the genotype distribution of these polymorphisms in Italian children with CAKUT. We also evaluated the association between the ACE insertion/deletion and the AT2R gene polymorphisms with the progression of renal damage in subgroups of CAKUT patients. We recruited 102 Italian children with CAKUT; 27 with vesicoureteral reflux; 12 with hypoplastic kidneys; 20 with multicystic dysplastic kidneys; 13 with ureteropelvic junctions stenosis/atresia; 18 with nonobstructed, nonrefluxing primary megaureters; and 12 with posterior urethral valves and compared them with 92 healthy control subjects. ACE and AT2R gene polymorphisms were analyzed by PCR. The identification of AT2R gene polymorphisms in intron 1 and in exon 3 was revealed by enzymatic digestion. ACE genotype distribution in children with CAKUT was no different from that of the control subjects, but the subgroup of patients with radiographic renal parenchymal abnormalities showed an increased occurrence of the D/D genotype. The frequency of the G allele of AT2R gene in children with CAKUT was increased in respect to that of the control subjects. By contrast, no significant difference in the frequency of the C and A alleles of the AT2R gene was found. Our findings indicate that the ACE gene can be a risk factor in the progression of renal parenchymal damage in CAKUT patients. Moreover, a major role of the AT2R gene in the development of CAKUT has been found, at least in Italian children.