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1.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(9): 958-961, 2020 Sep 10.
Artigo em Chinês | MEDLINE | ID: mdl-32820507

RESUMO

OBJECTIVE: To determine the carrier rate of deafness-related genetic variants among 53 873 newborns from Zhengzhou. METHODS: Heel blood samples of the newborns were collected with informed consent from the parents, and 15 loci of 4 genes related to congenital deafness were detected by microarray. RESULTS: In total 2770 newborns were found to carry deafness-related variants, with a carrier rate of 5.142%. 1325 newborns (2.459%) were found to carry heterozygous variants of the GJB2 gene, 1071 (1.988%) were found with SLC26A4 gene variants, 205 were found with GJB3 gene variants (0.381%), and 120 were found with 12S rRNA variants (0.223%). Five newborns have carried homozygous GJB2 variants, two have carried homozygous SLC26A4 variants, five have carried compound heterozygous GJB2 variants, and four have carried compound heterozygous SLC26A4 variants. 33 neonates have carried heterozygous variants of two genes at the same time. CONCLUSION: The carrier rate of deafness-related variants in Zhengzhou, in a declining order, is for GJB2, SLC26A4, GJB3 and 12S rRNA. The common variants included GJB2 235delC and SLC26A4 IVS7-2A>G, which are similar to other regions in China. To carry out genetic screening of neonatal deafness can help to identify congenital, delayed and drug-induced deafness, and initiate treatment and follow-up as early as possible.


Assuntos
Coloboma/genética , Conexinas , Heterozigoto , Diagnóstico Pré-Natal , Insuficiência Renal/genética , Refluxo Vesicoureteral/genética , China , Coloboma/diagnóstico , Conexinas/genética , Análise Mutacional de DNA , Surdez/genética , Feminino , Feto , Homozigoto , Humanos , Recém-Nascido , Mutação , Fenótipo , Gravidez , Insuficiência Renal/diagnóstico , Transportadores de Sulfato/genética , Refluxo Vesicoureteral/diagnóstico
2.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(8): 847-850, 2020 Aug 10.
Artigo em Chinês | MEDLINE | ID: mdl-32761592

RESUMO

OBJECTIVE: To diagnose a fetus with Papillorenal syndrome by prenatal ultrasonography and genetic testing, and to correlate its genotype with phenotype. METHODS: Ultrasound finding of the fetus was reviewed. Muscle sample of the abortus was taken, and genetic variant related to the clinical phenotype was screened by whole exome sequencing (WES). Suspected pathogenic variant was verified by Sanger sequencing. RESULTS: Prenatal ultrasound revealed severe dysplasia of the fetal kidneys and oligohydramnios. WES revealed that the fetus has carried a c.736G>T (p.Glu246Ter) nonsense variant of the PAX2 gene, which was unreported previously. The result of Sanger sequencing was consistent with that of WES. Both parents of the fetus were of the wild-type, suggesting a de novo origin of the fetal variant. CONCLUSION: The novel heterozygous c.736G>T (p.Glu246Ter) variant of the PAX2 gene probably underlay the Papillorenal syndrome in the fetus. Above finding has provided a basis for genetic counseling and clinical decision-making.


Assuntos
Coloboma/diagnóstico , Coloboma/genética , Feto , Testes Genéticos , Diagnóstico Pré-Natal , Insuficiência Renal/diagnóstico , Insuficiência Renal/genética , Refluxo Vesicoureteral/diagnóstico , Refluxo Vesicoureteral/genética , Feminino , Humanos , Fator de Transcrição PAX2/genética , Fenótipo , Gravidez , Sequenciamento Completo do Exoma
4.
Cir. pediátr ; 33(3): 124-130, jul. 2020. tab
Artigo em Espanhol | IBECS | ID: ibc-193554

RESUMO

OBJETIVO: Actualmente, los algoritmos para estudiar hidronefrosis en niños incluyen realizar cistografía miccional (CUMS) y renograma diurético (RD) a todos. Ambos son invasivos, molestos y con riesgo de radiación. Contrariamente, las pruebas básicas de función renal (PFRb) no están incluidas. Este estudio se realizó para saber si las PFRb pueden ayudarnos a evitar alguna CUMS y/o RD. MÉTODOS: Análisis retrospectivo de todas las historias de niños con hidronefrosis (pelvis renal ≥ 20 mm) atendidos durante un año (n = 38), [estenosis pieloureteral (EPU) n = 12; reflujo vesicoureteral (RVU) de alto grado n = 8; hidronefrosis no obstructiva (HNO) n = 18]. Analizamos las tres PFRb protocolizadas [osmolalidad urinaria máxima tras DDAVP (UOsm), albúmina/creatinina (Alb/Cr) y NAG/creatinina (NAG/Cr)], junto con CUMS y RD. RESULTADOS: UOsm estaba disminuida en 100% RVU, 75% EPU, 16,7% HNO. Alb/Cr estaba aumentado en 62,5% RVU, 8,3% EPU, 11,1% HNO. NAG/Cr estaba aumentado en 42,8% RVU, 25% EPU, 6,7% HNO. En relación a la necesidad de cirugía, UOsm estaba disminuida en la mayoría de pacientes intervenidos (100% con RVU y 74% con EPU), mientras solo en el 11% de pacientes sin cirugía (HNO). CONCLUSIÓN: Estos resultados sugieren que las PFRb pueden ser útiles para retrasar o evitar CUMS en algunos niños con hidronefrosis. La UOsm es la PFRb más sensible. Ningún niño con RVU (de alto grado) mostró una UOsm normal. Se podrían haber evitado CUMS en el 43% de nuestros pacientes, con UOsm normal, sin haber perdido ningún diagnóstico de VUR (de alto grado)


OBJECTIVE: Nowadays, the algorithms for the study of hydronephrosis in children include voiding cystourethrogram (VCUG) and diuretic renogram (DR) in all patients. Both are invasive, distressing, and associated with radiation risk. However, basic renal function tests (bRFTs) are not included. This study was designed to determine whether bRFTs may help avoid VCUG and/or DR in some children. METHODS: Retrospective review of hydronephrosis (≥ 20 mm renal pelvis) patient records over one year (n = 38) (pyeloureteral stenosis (PUS) n = 12; high-grade vesicoureteral reflux (VUR) n = 8; non-obstructive hydronephrosis (NOH) n = 18. Data from the three protocolized bRFTs (maximum urine osmolality after DDAVP (UOsm), albumin/creatinine ratio (Alb/Cr), and NAG/creatinine ratio (NAG/Cr), together with VCUG and DR, were analyzed. RESULTS: 38 hydronephrosis patients (pyeloureteral stenosis (PUS) n = 12; high grade vesicoureteral reflux (VUR) n = 8; non-obstructive hydronephrosis (NOH) n = 18. UOsm was decreased in 100% of VUR patients, 75% of PUS patients, and 16.7% of NOH patients. Alb/Cr ratio was increased in 62.5% of VUR patients, 8.3% of PUS patients, and 11.1% of NOH patients. NAG/Cr ratio was increased in 42.8% of VUR patients, 25% of PUS patients, and 6.7% of NOH patients. UOsm was decreased in most patients who required surgery (100% of VUR patients and 74% of PUS patients), but only in 11.1% of patients who did not (NOH group). CONCLUSIONS: These results suggest that bRFTs may be useful in delaying or avoiding VCUG in some hydronephrosis cases. UOsm is the most sensitive test. No child with (high grade) VUR had a normal UOsm. VCUG could have been avoided in 43% of our patients –with a normal UOsm-without missing any high grade VUR


Assuntos
Humanos , Masculino , Feminino , Lactente , Hidronefrose/diagnóstico por imagem , Hidronefrose/cirurgia , Algoritmos , Cistografia , Renografia por Radioisótopo , Estudos Retrospectivos , Pelve Renal/diagnóstico por imagem , Pelve Renal/patologia , Albuminúria/diagnóstico , Refluxo Vesicoureteral/diagnóstico , Razão de Chances , Técnicas de Laboratório Clínico
5.
J Urol ; 204(6): 1320-1325, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-32614253

RESUMO

PURPOSE: We evaluated the effect of long-term low dose antibiotic prophylaxis on children's gut microbiota. MATERIALS AND METHODS: We conducted 16S ribosomal RNA gene sequencing using stool samples from 35 patients younger than 3 years old (median age 5.2 months; male-to-female ratio 17:18) who underwent antibiotic treatment during the acute phase of febrile urinary tract infection. Samples were collected at 5 time points, ie before, during and at 1 to 2, 3 to 4, and 5 to 6 months after febrile urinary tract infection onset and antibiotic treatment. Continuous antibiotic prophylaxis using trimethoprim-sulfamethoxazole was initiated in 23 patients with grade III or higher vesicoureteral reflux and was not administered in 12 patients without reflux. RESULTS: Within 2 weeks after initiation of treatment for febrile urinary tract infection almost all enteric bacteria belonged to the order Lactobacillales, and gut microbiota diversity decreased compared to the pretreatment level (average Shannon index 2.9 before treatment, 1.4 during treatment). The diversity recovered within 1 to 2 months after febrile urinary tract infection onset in both groups. Diversity was maintained during the study period in both groups (p=0.43). A smaller proportion of gut microbiota component belonged to the order Enterobacteriales (p=0.002) in the antibiotic prophylaxis group. CONCLUSIONS: Our results revealed that patients receiving continuous antibiotic prophylaxis had normal gut microbiota diversity, indicating that the effect of trimethoprim-sulfamethoxazole on gut microbiota was insignificant. Furthermore, prophylaxis with trimethoprim-sulfamethoxazole might selectively suppress the growth of bacteria belonging to the order Enterobacteriales, such as Escherichia coli and Klebsiella species, which are the main causative bacteria of febrile urinary tract infections.


Assuntos
Antibacterianos/administração & dosagem , Antibioticoprofilaxia/efeitos adversos , Disbiose/diagnóstico , Microbioma Gastrointestinal/efeitos dos fármacos , Infecções Urinárias/tratamento farmacológico , Refluxo Vesicoureteral/tratamento farmacológico , Antibacterianos/efeitos adversos , Antibioticoprofilaxia/métodos , Bactérias/genética , Bactérias/isolamento & purificação , Pré-Escolar , DNA Bacteriano/isolamento & purificação , Relação Dose-Resposta a Droga , Esquema de Medicação , Disbiose/induzido quimicamente , Disbiose/epidemiologia , Fezes/microbiologia , Feminino , Microbioma Gastrointestinal/genética , Humanos , Lactente , Falência Renal Crônica/etiologia , Falência Renal Crônica/prevenção & controle , Masculino , RNA Ribossômico 16S/genética , Resultado do Tratamento , Combinação Trimetoprima e Sulfametoxazol/administração & dosagem , Combinação Trimetoprima e Sulfametoxazol/efeitos adversos , Infecções Urinárias/complicações , Refluxo Vesicoureteral/diagnóstico , Refluxo Vesicoureteral/etiologia
6.
Int Braz J Urol ; 46(4): 523-537, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32167732

RESUMO

INTRODUCTION: Vesicoureteral Reflux (VUR) is characterized by a retrograde flow of urine from the bladder into the ureters and kidneys. It is one of the most common urinary tract anomalies and the major cause of urinary tract infection (UTI) in the first years of life. If not properly diagnosed and treated can lead to recurrent UTI, renal scar and, in severe cases, to end stage renal disease. Despite recent advances in scientific and technological knowledge, evaluation and treatment of VUR is still controversial and there is still considerable heterogeneity in evaluation methods and therapeutic approaches. The aim of the present consensus is to give a practical orientation on how to evaluate and treat VUR. METHODS: The board of Pediatric Urology of the Brazilian Society of Urology joined a group of experts and reviewed all important issues on Vesicoureteral Refl ux evaluation and treatment and elaborated a draft of the document. On November 2017 the panel met to review, discuss and write a consensus document. RESULTS AND DISCUSSION: Vesicoureteral Reflux is a common and challenging problem in children. Children presenting with Vesicoureteral Reflux require careful evaluation and treatment to avoid future urinary tract infections and kidney scars. The panel addressed recommendations on up to date choice of diagnosis evaluation and therapies.


Assuntos
Infecções Urinárias , Refluxo Vesicoureteral , Brasil , Consenso , Humanos , Ultrassonografia , Infecções Urinárias/diagnóstico , Infecções Urinárias/terapia , Refluxo Vesicoureteral/diagnóstico , Refluxo Vesicoureteral/terapia
8.
Arch. argent. pediatr ; 118(1): e16-e21, 2020-02-00. tab
Artigo em Inglês, Espanhol | LILACS, BINACIS | ID: biblio-1095573

RESUMO

Introducción. El objetivo fue evaluar las características clínicas y la evolución del reflujo vesicoureteral (RVU) según el sexo y grado de RVU.Población y métodos. Se incluyeron pacientes con RVU vistos durante el seguimiento de rutina entre enero de 2014 y enero de 2015. Se registraron las características demográficas, la evolución, los laboratorios y las imágenes.Resultados. Se seleccionó a 220 pacientes, cuya media de edad del diagnóstico era 3,17 ± 3,08 años; en ese momento, los varones eran menores que las niñas (2,00 ± 2,59 vs. 3,81 ± 3,15, p < 0,001). La infección urinaria fue la presentación más frecuente, seguida de hidronefrosis prenatal (HNP). El 22 % de los pacientes tuvo reflujo de grado 1-2; el 51 %, de grado 3; y el 27 %, de grado 4-5. En el reflujo de grado 4-5, las ecografías y gammagrafías con ácido dimercaptosuccínico (DMSA) marcado con 99mTc presentaron más anomalías, y se realizaron más cirugías (p < 0,001). En los varones, fueron más comunes el reflujo de grado 4-5 (43,6 % vs. 18,3 %) y las anomalías ecográficas (77 % vs. 54 %) y en la DMSA (77 % vs. 59 %) (p < 0,05). En las niñas, hubo mayores tasas de infección urinaria, disfunción de las vías urinarias inferiores y resolución espontánea (p < 0,05).Conclusiones. A pesar de la menor edad al momento del diagnóstico, la resolución espontánea fue menor en los varones, y estos presentaron HNP, reflujo grave y anomalías radiológicas más frecuentemente.


Introduction. The aim of the study was to assess the clinical features and outcome parameters of children with vesicoureteral reflux (VUR) based on gender and VUR grade.Population and methods. Patients with VUR who were seen during routine follow-up visits at Ankara University Children's Hospital between January 2014-January 2015 were included in this retrospective study. Patient demographics, clinical course, laboratory investigations, imaging were noted.Results. Two hundred and twenty patients were recruited. Mean age at the time of diagnosis was 3,17 ± 3,08 years. Boys were diagnosed at younger ages as compared to girls (2.00 ± 2,59 vs. 3,81 ± 3.15, p < 0.001). Urinary tract infection (UTI) was the most common presentation. The second presentation form was antenatal hydronephrosis (AHN) which was more common in males (25.6 %, p < 0.001). Twenty-two percent of the patients had grade 1-2, 51 % grade 3 and 27 % grade 4-5 reflux. Patients with grade 4-5 reflux had more abnormal ultrasound (US) and Tech 99m dimercaptosuccinic acid scintigraphy (DMSA) findings and surgery was performed more frequently in this group (p < 0.001). In males, grade 4-5 reflux (43.6 % vs. 18.3 %), abnormal US (77 % vs. 54 %) and DMSA (77 % vs. 59 %) findings were more frequent (p < 0.05). In girls higher rates of UTIs, lower urinary tract dysfunction (LUTD) and spontaneous reflux resolution were seen (p < 0.05).Conclusions: Despite younger age at diagnosis, spontaneous resolution was found lower in boys and they had more frequent AHN, more severe reflux, and radiological abnormalities.


Assuntos
Humanos , Masculino , Feminino , Lactente , Pré-Escolar , Criança , Adolescente , Infecções Urinárias/diagnóstico , Refluxo Vesicoureteral/diagnóstico , Sinais e Sintomas , Turquia/epidemiologia , Sistema Urinário/anormalidades , Infecções Urinárias/cirurgia , Refluxo Vesicoureteral/cirurgia , Estudos Retrospectivos , Dados Demográficos , Hidronefrose
9.
Retin Cases Brief Rep ; 14(1): 77-81, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-28820764

RESUMO

PURPOSE: To characterize the ocular features of a severe case of renal coloboma syndrome in a long-term follow-up. METHODS: Observational case report over a period of 45 years. Examination under anesthesia at the age of 3 months, repeated ophthalmologic examination (age 7, 14, 25, 45 years), fluorescein and indocyanine green angiography, electroretinography, ocular ultrasound, optical coherence tomography, computed tomography scan orbits, and magnetic resonance imaging of the brain. RESULTS: Presentation with severe bilateral posterior eye defects, optic nerve aplasia and a retrobulbar cyst in the left eye, renal abnormalities, and mental retardation. Over time, a progressive axial myopia in the right eye, band keratopathy in the left eye, and progressive bilateral posterior lens opacities were noted. There was only a minor decrease in visual acuity and visual field of the only functional right eye. The mother of this patient had a mild optic disk hypoplasia, progressive lens opacities, and late-onset renal disease. Both had a confirmed mutation in exon 2 of the PAX2 gene. CONCLUSION: This first published long-term follow-up of renal coloboma syndrome shows progressive posterior lens opacities, axial myopia, and band keratopathy with only a small decline in visual function over time.


Assuntos
Coloboma/diagnóstico , Disco Óptico/anormalidades , Insuficiência Renal/diagnóstico , Refluxo Vesicoureteral/diagnóstico , Acuidade Visual , Progressão da Doença , Eletrorretinografia , Seguimentos , Humanos , Lactente , Masculino , Fatores de Tempo , Tomografia Computadorizada por Raios X
10.
J Pediatr ; 216: 73-81.e1, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31402140

RESUMO

OBJECTIVE: To estimate the cost-effectiveness of routine, screening renal bladder ultrasound (RBUS) for children age 2-24 months after a first febrile urinary tract infection (UTI), as recommended by the American Academy of Pediatrics. STUDY DESIGN: We developed a decision analytic model that simulates a population of children after a first febrile UTI. The model incorporates the diagnostic utility of RBUS to detect vesicoureteral reflux and genitourinary anomalies. We adopted a health-system perspective, 5-year horizon, and included 1-way and 2-way sensitivity analyses. Costs were inflated to 2018 US dollars, and our model incorporated a 3% discounting rate. We compared routine RBUS after first, febrile UTI compared with routine RBUS after second UTI (ie, control arm). Our main outcomes were recurrent UTI rate and incremental cost per quality-adjusted life-year (QALY). RESULTS: Among children 2-24 months after a first febrile UTI, RBUS had an overall accuracy (true positives + true negatives) of 64.4%. The recurrent UTI rate in the intervention arm was 19.9% compared with 21.0% in the control arm. Thus, 91 patients would need to be screened with RBUS to prevent 1 recurrent UTI. RBUS increases QALYs by +0.0002 per patient screened, corresponding to an incremental cost-effectiveness ratio of $803 000/QALY gained. In the RBUS arm, 20.6% of children would receive unnecessary voiding cystourethrograms compared with 12.2% of children in the control group. CONCLUSIONS: Screening RBUS after a first, febrile UTI in children age 2-24 months does not meet cost-effectiveness guidelines. Our findings support deferred screening until a second UTI.


Assuntos
Ultrassonografia/economia , Infecções Urinárias/diagnóstico por imagem , Estudos de Casos e Controles , Pré-Escolar , Análise Custo-Benefício , Técnicas de Apoio para a Decisão , Humanos , Lactente , Rim/diagnóstico por imagem , Valor Preditivo dos Testes , Bexiga Urinária/diagnóstico por imagem , Infecções Urinárias/etiologia , Refluxo Vesicoureteral/complicações , Refluxo Vesicoureteral/diagnóstico
11.
Neurol Sci ; 41(3): 687-689, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31713190

RESUMO

The aim of this study is to evaluate the incidence of vesicoureteral reflux (VUR) in patients with febrile convulsion (FC). For this, patients that were diagnosed with FC in 2018 were retrospectively reviewed. Those with epilepsy, motor/mental retardation, or spina bifida were excluded. Mid-stream urine samples were collected in children who were toilet trained while sterile bags were used in the smaller. Urinary tract infection (UTI) was defined as ˃ 5 leucocytes/HPF in urinalysis and a subsequent positive urine culture (≥ 10.000 CFU/ml). Children with UTI were further investigated via voiding cystourethrogram (VCUG) and dimercaptosuccinic acid (DMSA) scintigraphy for VUR. Urinalysis was present in 79 among a total of 181 patients (43.6%). Forty-five of the patients were male (57%). Mean age was 2.6 ± 1.4 years. UTI was diagnosed in 6 (7.6%) patients (5 females, 1 male). Three of the girls had recurrent febrile UTI and subsequently, VUR was diagnosed in two of them. VUR is found in 2.5% of the FC cases with urine sampling. Urinalysis should not be ignored in patients with FC as it may lead to diagnosis of VUR.


Assuntos
Convulsões Febris/diagnóstico , Convulsões Febris/epidemiologia , Infecções Urinárias/diagnóstico , Infecções Urinárias/epidemiologia , Refluxo Vesicoureteral/diagnóstico , Refluxo Vesicoureteral/epidemiologia , Pré-Escolar , Feminino , Humanos , Incidência , Lactente , Masculino , Estudos Retrospectivos , Urinálise
13.
Pan Afr Med J ; 33: 304, 2019.
Artigo em Francês | MEDLINE | ID: mdl-31692745

RESUMO

Vesicoureteral reflux is very common in children, requiring a long follow-up period to reduce its progression toward chronic renal failure. This study aims to analyze the epidemiological diagnostic features, the management of vesicoureteral reflux and long term course of patients with this disease. We conducted a retrospective study of 42 patients with suspected vesicoureteral reflux hospitalized in the Department of Visceral Paediatric Surgery at the Hassan II University Hospital of Fez over a period of 6 years from January 2010 to December 2015. Mean age of patients at diagnosis was 3 years and 2 months. The boy is to girl sex ratio was 1.8. Vesicoureteral reflux was isolated in 81% of patients and secondary or associated in 19% of patients. The most common initial manifestation was urinary tract infection (90.4%). Renal function was impaired in 54.8% of children. The treatment was based on antibiotics against diagnosed UTI (90.4%), antibiotic prophylaxis in the case of recurrence and Cohen reimplantation (97.62%). Surgical indication readily concerned all patients with grades IV and V vesicoureteral reflux (73.9%) as well as patients with impaired kidneys and 26.1% of patients after medical treatment. Early and late postoperative course was in general satisfactory: disappearance of vesicoureteral reflux in 92.68% of cases. Upper urinary tract regressed except for 9.52% of patients; 95.23% of patients had complete recovery of renal function. There was a reduction in UTI recurrence (in 19.04% of cases after surgery). The majority of parents judged positively the clinical course of their children (54.76%) after surgery.


Assuntos
Antibacterianos/administração & dosagem , Infecções Urinárias/etiologia , Refluxo Vesicoureteral/diagnóstico , Adolescente , Antibioticoprofilaxia/métodos , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Recidiva , Estudos Retrospectivos , Infecções Urinárias/epidemiologia , Infecções Urinárias/terapia , Refluxo Vesicoureteral/fisiopatologia , Refluxo Vesicoureteral/cirurgia
14.
J Pediatr Urol ; 15(5): 515.e1-515.e8, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31420285

RESUMO

OBJECTIVE: The objective of the study was to evaluate the predictive value of distal ureteral diameter ratio (UDR) on outcome of primary vesicoureteral reflux (VUR) and reflux resolution after endoscopic injection. PATIENTS AND METHODS: Three hundred eighty-three patients treated for primary VUR between January 2010 and October 2015 were retrospectively reviewed. The parameters analyzed were age at diagnosis, sex, grade and lateralite of VUR, complaints at admission (febrile urinary tract infection, antenatal hydronephrosis, family history),bladder-bowel dysfunction (urgency, incontinence, constipation), dimercaptosuccinic acid (DMSA) scintigraphy findings, follow-up period, clinical course (spontaneous resolution or surgical correction), time of spontaneous resolution, surgical treatment time and age, materials used for injection and success of endoscopic injection. Ureteral diameter ratio was calculated on the initial VCUG at the time of the diagnosis as the largest ureteral diameter within the false pelvis divided by the distance between L1-L3.The correlation between UDR, clinical outcome (spontaneous resolution/surgical correction) and success of endoscopic injection was evaluated by logistic regression analysis. To compare the effect of UDR and grade of reflux on spontaneous resolution, multivariate logistic regression analysis was performed in three models together with sex, age, resolution time, presence of febrile UTI and DMSA scan findings. RESULTS: Three hundred eighty-three patients were enrolled. There was a strong correlation between UDR and grade of reflux (p < 0,0001). Ureteral diameter ratio was higher in patients whose complaints at admission were family history and febrile UTI, but this correlation was not statistically significant (p > 0.05). When the correlation between UDR and the DMSA scan findings was evaluated, UDR was found to be significantly higher in patients with moderate and severe scarring. Bladder-bowel dysfunction was present in 111 patients (28.9%). There was no significant correlation between BBD and UDR (p > 0.05). 62 patients showed spontaneous resolution in a median duration of 1.55 years. The predictive value of UDR for spontaneous resolution was more significant than grade (p < 0.001).There was no spontaneous resolution in patients with UDR over 0.45.321 patients underwent operation (248 endoscopic injection, 17 ureteroneocystostomy, 56 endoscopic injection+ureteroneocystostomy). When the predictive value of the reflux grade and UDR in the success rate of endoscopic correction was compared, UDR was shown to be significantly more predictive than the grade of reflux (p < 0.05). Ureteral diameter ratio was significantly higher in patients whose injection treatment was unsuccessful. Each 0.05 unit increase in UDR affected the success of endoscopic injection negatively (95% CI:<0.001-0.071). CONCLUSION: Ureteral diameter ratio is an objective measurement of VUR and appears to be a new predictive tool for clinical outcome and success after endoscopic injection.


Assuntos
Resinas Acrílicas/administração & dosagem , Ureter/diagnóstico por imagem , Ureteroscopia/métodos , Urografia/métodos , Refluxo Vesicoureteral/diagnóstico , Adolescente , Materiais Biocompatíveis/administração & dosagem , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Injeções , Masculino , Estudos Retrospectivos , Resultado do Tratamento , Urodinâmica/fisiologia , Refluxo Vesicoureteral/fisiopatologia , Refluxo Vesicoureteral/terapia
15.
Indian Pediatr ; 56(7): 566-570, 2019 07 15.
Artigo em Inglês | MEDLINE | ID: mdl-31333211

RESUMO

OBJECTIVES: To evaluate the clinical spectrum and patterns of clinical presentation in congenital anomalies of kidney and urinary tract. METHODS: We enrolled 307 consecutively presenting children with congenital anomalies of kidney and urinary tract at the pediatric nephrology clinic. Patients were evaluated clinically, with serum biochemistry, appropriate imaging and radionuclide scans. RESULTS: The most common anomaly was primary vesicoureteric reflux (VUR) (87, 27.3%), followed by pelviureteral junction obstruction (PUJO) (62,20.1%), multicystic dysplastic kidney (51 16.6%), non-obstructive hydronephrosis (32, 10.4%) and posterior urethral valves (PUV) (23, 7.4%). 247 (80.4%) anomalies had been identified during the antenatal period. Another 33 (10.7%) were diagnosed during evaluation of urinary tract infection, and 21 (6.8%) during evaluation for hypertension at presentation. Obstructive anomalies presented earlier than non-obstructive (7 (3, 22.5) vs 10 (4, 24) mo: (P=0.01)). The median (IQR) ages of presentation for children with PUV (n=23), VUR (n=87) and PUJO (n=62) were 4 (2, 14) mo, 10 (5, 27) mo, and 7 (3, 22.5) mo, respectively. Nine (2.9%) children had extrarenal manifestations. CONCLUSIONS: The median age at clinical presentation for various subgroups of anomalies indicates delayed referral. We emphasize the need for prompt referral in order to initiate appropriate therapeutic strategies in children with congenital anomalies of kidney and urinary tract.


Assuntos
Obstrução Ureteral , Sistema Urinário , Anormalidades Urogenitais , Refluxo Vesicoureteral , Fatores Etários , Pré-Escolar , Feminino , Humanos , Índia/epidemiologia , Lactente , Masculino , Diagnóstico Pré-Natal/métodos , Diagnóstico Pré-Natal/estatística & dados numéricos , Encaminhamento e Consulta/organização & administração , Tomografia Computadorizada de Emissão/métodos , Tomografia Computadorizada de Emissão/estatística & dados numéricos , Obstrução Ureteral/diagnóstico , Obstrução Ureteral/etiologia , Sistema Urinário/anormalidades , Sistema Urinário/diagnóstico por imagem , Anormalidades Urogenitais/classificação , Anormalidades Urogenitais/diagnóstico , Anormalidades Urogenitais/epidemiologia , Anormalidades Urogenitais/fisiopatologia , Urografia/métodos , Urografia/estatística & dados numéricos , Refluxo Vesicoureteral/classificação , Refluxo Vesicoureteral/diagnóstico , Refluxo Vesicoureteral/epidemiologia , Refluxo Vesicoureteral/fisiopatologia
16.
J Pediatr Urol ; 15(5): 514.e1-514.e6, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31285138

RESUMO

BACKGROUND: Primary vesicoureteral reflux (VUR) is the most common urological anomaly in children. Voiding cystourethrography (VCUG) is considered the reference standard for the diagnosis of VUR. Even if it is a secure and standardized technique, it is still an invasive method, hence, the effort to find an alternative method to diagnose VUR. The aim of the study is to evaluate the diagnostic accuracy of 99mTC-MAG3 scintigraphy with indirect cystography in detecting VUR and to estimate any interobserver variability in 99mTC-MAG3 scintigraphy interpretation. METHODS: The authors retrospectively reviewed all the pediatric patients who underwent both a VCUG and a 99mTC-MAG3 renal scintigraphy at the study institution between 2012 and 2016. RESULTS: A total of 86 children (and 168 renal units) were included. MAG3 scan revealed a sensitivity of 54% and a specificity of 90% with positive predictive value of 79% and negative predictive value of 73%. Each MAG3 scintigraphy was then independently and blindly evaluated by a pediatric urologist and two nuclear physicians. After revision, the concordance between VCUG and MAG3 in reflux cases dropped from 54% to 27% (on average), and the reviewers reclassified most examinations as non-conclusive. CONCLUSIONS: 99mTC-MAG3 renal scintigraphy with indirect cystography showed low sensitivity in detecting VUR of any grade and cannot, therefore, be proposed as completely alternative to VCUG in the diagnosis of VUR. Moreover, MAG3 scintigraphy interpretation for the diagnosis of VUR has a very high interobserver variability, mostly because of the lack of a correct and complete voiding phase.


Assuntos
Cistografia/métodos , Cintilografia/métodos , Ácido Dimercaptossuccínico Tecnécio Tc 99m/farmacologia , Bexiga Urinária/diagnóstico por imagem , Refluxo Vesicoureteral/diagnóstico , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Curva ROC , Compostos Radiofarmacêuticos/farmacologia , Estudos Retrospectivos , Micção , Urodinâmica/fisiologia , Refluxo Vesicoureteral/fisiopatologia
17.
Saudi J Kidney Dis Transpl ; 30(3): 706-709, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31249237

RESUMO

Diabetes mellitus (DM) is a common disease in Oman as in rest of Gulf Cooperation Council where metabolic syndrome is of high prevalence. DM is a foremost risk factor for urinary tract infections (UTIs). It is also linked to more complicated infections such as emphysematous pyelonephritis (EPN), emphysematous pyelitis (EP), renal/perirenal abscess, emphysematous cystitis, xanthogranulomatous pyelonephritis, and renal papillary necrosis. The diagnosis of these cases is frequently delayed because the clinical manifestations are generic and not different from the typical triad of upper UTI, which include fever, flank pain, and pyuria. A middle-aged female with DM and chronic kidney disease stage IV was admitted with recurrent UTI with extended-spectrum beta-lactamase-producing Escherichia coli. At presentation, she was afebrile, clinically stable, had no flank pain and there was no leukocytosis. Laboratory test for C- reactive protein done twice and was only mildly elevated at 7 and 11 mg/dL. A computed tomography scan of kidney-ureter-bladder (CT-KUB) was recommended and reported as "no KUB stone but small atrophic left kidney with dilatation of the pelvicalycial system and ureter and the presence of air in the collecting system suggestive of EP." Thus, commonly associated with DM, especially in females, debilitated immune-deficient individuals, and patients harboring obstructed urinary system with infective nidus. Air in the kidney is not always due to EPN. UTI with a gas-producing organism can ascend to the kidney in the presence of vesicoureteral reflux.


Assuntos
Complicações do Diabetes/mortalidade , Enfisema/microbiologia , Infecções por Escherichia coli/microbiologia , Pielite/microbiologia , Infecções Urinárias/microbiologia , Refluxo Vesicoureteral/complicações , Doenças Assintomáticas , Complicações do Diabetes/diagnóstico , Enfisema/diagnóstico por imagem , Infecções por Escherichia coli/complicações , Infecções por Escherichia coli/diagnóstico , Feminino , Humanos , Pessoa de Meia-Idade , Pielite/diagnóstico por imagem , Recidiva , Fatores de Risco , Infecções Urinárias/complicações , Infecções Urinárias/diagnóstico , Refluxo Vesicoureteral/diagnóstico
18.
J Pediatr Urol ; 15(4): 387.e1-387.e8, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31182400

RESUMO

BACKGROUND: Continuous antimicrobial prophylaxis (prophylaxis) is associated with a reduction in recurrent urinary tract infections in children with vesicoureteral reflux. However, adherence to daily medications has been shown to be poor. OBJECTIVE: To determine patient/caregiver factors associated with non-adherence and to determine whether adherence alters the effect of prophylaxis on recurrent UTIs and renal scarring. STUDY DESIGN: We conducted a secondary analysis of the Randomized Intervention for Children with Vesicoureteral Reflux trial. We stratified adherence scores into quartiles to assess trends within the data. We assessed predictors of non-adherence using ordinal logistic regression. We then examined the efficacy of prophylaxis stratified by adherence quartiles. RESULTS: Six hundred patients were included in the analysis. The quartiles of adherence were as follows: 1st quartile-0-70% adherence; 2nd quartile-71-91% adherence; 3rd quartile-92-96% adherence; and 4th quartile->96% adherence. Neither demographic factors nor disease severity was associated with non-adherence. In the subanalysis of patients who were toilet trained at baseline, increasing bladder and bowel dysfunction (BBD) symptom score was associated with non-adherence (adjusted odds ratio, aOR = 1.1, 95% confidence interval [CI] 1.0-1.2). Patients least adherent were 2.5 times more likely (95%CI 1.1-5.6) to have a recurrent UTI compared with patients most adherent. After controlling for treatment arm, age, sex, degree of reflux, BBD, and number of UTIs, patients least adherent (taking the study medication less than <70% of the time) were at highest risk for renal scarring (aOR = 24.2, 95%CI 3.0-197). In contrast, among the most adherent quartile, the probability of renal scarring was highest in those assigned prophylaxis (16.2% compared with 1.7% in those most adherent to placebo). CONCLUSIONS: Adherence is distinctly related to clinical outcomes in children with VUR. Non-adherence is common and represents a distinct clinical entity that is associated with renal scarring. Adherence should be assessed in prophylaxis management algorithms.


Assuntos
Antibacterianos/uso terapêutico , Antibioticoprofilaxia/métodos , Adesão à Medicação/estatística & dados numéricos , Infecções Urinárias/prevenção & controle , Refluxo Vesicoureteral/complicações , Criança , Pré-Escolar , Método Duplo-Cego , Feminino , Seguimentos , Humanos , Incidência , Modelos Logísticos , Estudos Longitudinais , Masculino , Análise Multivariada , Recidiva , Medição de Risco , Resultado do Tratamento , Infecções Urinárias/etiologia , Refluxo Vesicoureteral/diagnóstico
19.
Clin Exp Nephrol ; 23(9): 1119-1129, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31131422

RESUMO

BACKGROUND: Hepatocyte nuclear factor 1ß (HNF1B), located on chromosome 17q12, causes renal cysts and diabetes syndrome (RCAD). Moreover, various phenotypes related to congenital anomalies of the kidney and urinary tract (CAKUT) or Bartter-like electrolyte abnormalities can be caused by HNF1B variants. In addition, 17q12 deletion syndrome presents with multi-system disorders, as well as RCAD. As HNF1B mutations are associated with different phenotypes and genotype-phenotype relationships remain unclear, here, we extensively studied these mutations in Japan. METHODS: We performed genetic screening of RCAD, CAKUT, and Bartter-like syndrome cases. Heterozygous variants or whole-gene deletions in HNF1B were detected in 33 cases (19 and 14, respectively). All deletion cases were diagnosed as 17q12 deletion syndrome, confirmed by multiplex ligation probe amplification and/or array comparative genomic hybridization. A retrospective review of clinical data was also conducted. RESULTS: Most cases had morphological abnormalities in the renal-urinary tract system. Diabetes developed in 12 cases (38.7%). Hyperuricemia and hypomagnesemia were associated with six (19.3%) and 13 cases (41.9%), respectively. Pancreatic malformations were detected in seven cases (22.6%). Ten patients (32.3%) had liver abnormalities. Estimated glomerular filtration rates were significantly lower in the patients with heterozygous variants compared to those in patients harboring the deletion (median 37.6 vs 58.8 ml/min/1.73 m2; p = 0.0091). CONCLUSION: We present the clinical characteristics of HNF1B-related disorders. To predict renal prognosis and complications, accurate genetic diagnosis is important. Genetic testing for HNF1B mutations should be considered for patients with renal malformations, especially when associated with other organ involvement.


Assuntos
Síndrome de Bartter/genética , Doenças do Sistema Nervoso Central/genética , Deleção Cromossômica , Cromossomos Humanos Par 17 , Esmalte Dentário/anormalidades , Diabetes Mellitus Tipo 2/genética , Deleção de Genes , Fator 1-beta Nuclear de Hepatócito/genética , Doenças Renais Císticas/genética , Anormalidades Urogenitais/genética , Refluxo Vesicoureteral/genética , Adolescente , Adulto , Síndrome de Bartter/diagnóstico , Doenças do Sistema Nervoso Central/diagnóstico , Criança , Pré-Escolar , Hibridização Genômica Comparativa , Diabetes Mellitus Tipo 2/diagnóstico , Progressão da Doença , Predisposição Genética para Doença , Hereditariedade , Humanos , Lactente , Japão , Doenças Renais Císticas/diagnóstico , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase Multiplex , Linhagem , Fenótipo , Prognóstico , Estudos Retrospectivos , Fatores de Risco , Anormalidades Urogenitais/diagnóstico , Refluxo Vesicoureteral/diagnóstico
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