Anton Kenig

Echo-enhanced ultrasound voiding cystography in children: a new approach

Abstract The development of echo-enhancing agents has significantly improved the detection of the movement of fluid within the urinary tract by ultrasonography (US). The purpose of our study was to compare ultrasound voiding cystography (USVC) for the detection of vesicoureteric reflux (VUR) in children with direct radionuclide voiding cystography (DRVC). Ninety-nine children, aged 1.1–12.3 years, with 198 potentially refluxing units, were investigated simultaneously by DRVC and USVC. The indications for cystography were urinary tract infection, follow-up of a previously detected VUR, and screening of siblings of children with VUR. During the investigation an echo-enhancing agent (Levovist) was administered intravesically through a catheter already in place for the DRVC. The movement of both agents, radiotracer and Levovist, was registered simultaneously by a computerized gamma camera and US, respectively. The results were analyzed with DRVC representing the reference diagnostic test. The overall sensitivity and specificity of USVC for the detection of VUR were 79% and 92%, respectively. USVC may represent a reliable diagnostic tool for the detection and follow-up of VUR in children.

Real-time ultrasound-guided renal biopsy with a biopsy gun in children: safety and efficacy

Real‐time ultrasound‐guided renal biopsy (RB) with a biopsy gun has become a standard procedure in the treatment of children. The purpose of the study was to establish the complication rate after real‐time ultrasound‐guided RB with a biopsy gun, the adequacy of renal tissue samples for pathohistological tests, the rate of concurrence between clinical and pathohistological diagnoses, and the benefits of the procedure. From January 1994 to October 1999, 88 renal biopsies were performed on 82 children, 81 of whom (35M, 46F, aged 3‐20 y) were included in this retrospective study. The nephrotic syndrome (in infants, older children, those with evidence of nephritis or failing corticosteroid therapy) was the most frequent indication of RB. Other indications were non‐nephrotic proteinuria, nephritic syndrome, glomerular haematuria, renal allograft dysfunction, unexplained acute or chronic renal failure, and kidney disease progression monitoring. No serious complications were noted. The adequacy rate of renal tissue samples ranged from 93.1 to 96.6%, depending on which definition of the adequacy of renal tissue samples was used. Clinical and pathohistological diagnoses matched in 81.4% of the cases. Data obtained by RB were very beneficial to patients in terms of establishing, confirming or altering the diagnosis and, consequently, the treatment.

Indirect voiding urosonography for detecting vesicoureteral reflux in children

The purpose of our prospective study was to determine the value of indirect voiding urosonography without the use of contrast-media and without filling of the bladder through a catheter (IVUS) for detection of vesicoureteral reflux (VUR) in children, compared with echo-enhanced voiding urosonography (VUS). Among 57 children (45 girls and 12 boys, aged 2.7 to 12.0 years) admitted for echo-enhanced VUS either as part of routine evaluation after urinary tract infection (UTI) or follow-up of a previously detected VUR, IVUS was also successfully performed in 47 children. The results were considered positive when there was any increase in pelvis size and/or ureter lumen width during voiding. The overall sensitivity of IVUS in the detection of VUR was 49%, specificity 75%. The most accurate results were obtained with VUR grade III, where IVUS correctly detected 6 out of 7 cases, a sensitivity of 86%. The average increase of AP pelvis diameter during voiding was highly significant only in uretero-renal units with VUR grade III. Considering the obstacles in conducting the investigation and its relatively low overall sensitivity and specificity, it seems that IVUS is not sufficiently reliable to replace echo-enhanced VUS.

Ultrasound Detection of Vesicoureteral Reflux in Children

PURPOSE We present different ultrasound techniques to detect vesicoureteral reflux in children with special emphasis on voiding urosonography. MATERIALS AND METHODS Urinary tract infection is a common problem in children that may be related to vesicoureteral reflux. Currently there is no consensus on investigations in children after the first urinary tract infection. The least invasive imaging with the smallest radiation burden should be used in children. Ultrasound to detect reflux meets several of these criteria. The development of echo enhancing agents has markedly improved reflux visualization by ultrasound. RESULTS We discuss the clinical relevance of voiding urosonography. We reviewed the currently available literature and the results of our studies of this issue. We also describe our endeavors to avoid catheterization and detect vesicoureteral reflux based on various sonomorphological features, ie indirect voiding urosonography and ureteral jet Doppler waveform analysis, to avoid applying any substance into the bladder. CONCLUSIONS Voiding urosonography is safe and reliable to detect vesicoureteral reflux. When indicated, considerably decreased radiation exposure can be achieved by voiding urosonography instead of established cystography methods. Indirect voiding urosonography and ureteral jet Doppler waveform analysis could be an alternative to invasive voiding cystography, at least in children older than 3 years.

PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease

BackgroundAutosomal dominant polycystic kidney disease (ADPKD) is a genetically heterogeneous disorder caused by mutations in at least two different loci. Prior to performing mutation screening, if DNA samples of sufficient number of family members are available, it is worthwhile to assign the gene involved in disease progression by the genetic linkage analysis.MethodsWe collected samples from 36 Slovene ADPKD families and performed linkage analysis in 16 of them. Linkage was assessed by the use of microsatellite polymorphic markers, four in the case of PKD1 (KG8, AC2.5, CW3 and CW2) and five for PKD2 (D4S1534, D4S2929, D4S1542, D4S1563 and D4S423). Partial PKD1 mutation screening was undertaken by analysing exons 23 and 31–46 and PKD2 .ResultsLod scores indicated linkage to PKD1 in six families and to PKD2 in two families. One family was linked to none and in seven families linkage to both genes was possible. Partial PKD1 mutation screening was performed in 33 patients (including 20 patients from the families where linkage analysis could not be performed). We analysed PKD2 in 2 patients where lod scores indicated linkage to PKD2 and in 7 families where linkage to both genes was possible. We detected six mutations and eight polymorphisms in PKD1 and one mutation and three polymorphisms in PKD2.ConclusionIn our study group of ADPKD patients we detected seven mutations: three frameshift, one missense, two nonsense and one putative splicing mutation. Three have been described previously and 4 are novel. Three newly described framesfift mutations in PKD1 seem to be associated with more severe clinical course of ADPKD. Previously described nonsense mutation in PKD2 seems to be associated with cysts in liver and milder clinical course.