Contrast-enhanced voiding urosonography (VUS) is becoming more widely used for the diagnosis of vesicoureteric reflux (VUR). The purpose of this study was to evaluate the sensitivity of VUS using a second-generation ultrasound (US) contrast agent and compare it with standard fluoroscopic voiding cystourethrography (VCUG). A total of 183 children with 366 kidney-ureter units (KUUs) underwent VUS and VCUG in the same session with the same catheterization. VUS was performed after intravesical administration of 1 ml of a second-generation ultrasound contrast agent (UCA; SonoVue, Bracco, Italy). VUR was detected in 140 out of 366 cases (38%); in 89 (24.3%) by both methods, in 37 (10.1%) by VUS only, and in 14 (3.8%) by VCUG only. Although there was considerable agreement in the diagnosis of VUR by VUS and VCUG (κ=0.68, standard error [κ]=0.04), the difference in the detection rate of reflux between VUS and VCUG was significant (p<0.00001). The grade of VUR detected with VUS showed moderate agreement with grading by VCUG. Our findings suggest that contrast-enhanced harmonic VUS using a second-generation contrast agent is superior to VCUG in the detection and grading of VUR, and it should be the method of choice for this clinical indication.

Background and AimsAn expanding number of monogenic defects have been identified as causative of severe forms of very early-onset inflammatory bowel diseases [VEO-IBD]. The present study aimed at defining how next-generation sequencing [NGS] methods can be used to improve identification of known molecular diagnosis and to adapt treatment.MethodsA total of 207 children were recruited in 45 paediatric centres through an international collaborative network [ESPGHAN GENIUS working group] with a clinical presentation of severe VEO-IBD [n = 185] or an anamnesis suggestive of a monogenic disorder [n = 22]. Patients were divided at inclusion into three phenotypic subsets: predominantly small bowel inflammation, colitis with perianal lesions, and colitis only. Methods to obtain molecular diagnosis included functional tests followed by specific Sanger sequencing, custom-made targeted NGS, and in selected cases whole exome sequencing [WES] of parents-child trios. Genetic findings were validated clinically and/or functionally.ResultsMolecular diagnosis was achieved in 66/207 children [32%]: 61% with small bowel inflammation, 39% with colitis and perianal lesions, and 18% with colitis only. Targeted NGS pinpointed gene mutations causative of atypical presentations, and identified large exonic copy number variations previously missed by WES.ConclusionsOur results lead us to propose an optimised diagnostic strategy to identify known monogenic causes of severe IBD.

We found all ARPKD cases without PKHD1 point mutations to be phenocopies, and none to be explained by biallelic PKHD1 copy number variations. Screening for copy number variations is recommended in patients with a heterozygous point mutation.

Resolution of hydronephrosis after surgery is relatively slow, but renal parenchymal growth is rapid. Mild postoperative pelvic dilatation is frequent and does not indicate continued obstruction.

Endothelin is a peptide with vasoactive and diuretic potential. Its release has been demonstrated from endothelial and renal epithelial cells. Urinary excretion of endothelin, as shown by others, is thought to reflect intrarenal production. We measured endothelin by RIA in a population of healthy children from Germany and Hungary (group 1), neonates (group 3) and children before and during forced diuresis (groups 2a and 2b). Group 1 consisted of 24 children living in Germany and 13 children resident in Hungary. The age range in this group was 2.9-17 years. Daily excretion correlated significantly with age (r = 0.48, p < 0.001), but endothelin excretion corrected for body surface area remained constant with regard to the age group studied. This indicates that body or kidney size may influence endothelin excretion, respectively. There was no difference in endothelin excretion between the two countries. In premature infants and neonates (group 3), daily excretion of endothelin was highest in infants with very low gestational ages and decreased in full-term neonates to values not significantly different to the group of older children. The high values in premature infants may have been influenced by mechanical ventilation of physical stress, which cannot be differentiated in this study, however. In contrast to reported results in adults, renal excretion of endothelin was correlated positively to urine flow in all groups. Furthermore, the influence of forced diuresis was evaluated in 10 children with oncological disease before (group 2a) and during (group 2b) forced diuresis with fluid load (3 l/m2; n = 4) and fluid load with furosemide injection (0.3-1.0 mg/kg body weight; n = 6).(ABSTRACT TRUNCATED AT 250 WORDS)