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A Retrospective Study of Management of Congenital Hydronephrosis, is Early Detection Necessary?

The aim was to investigate the relationship between apparent diffusion coefficient (ADC) values measured by diffusion-weighted magnetic resonance imaging (DW MRI) and the split glomerular filtration rate (GFR) in infants with congenital hydronephrosis. Diffusion-weighted imaging (DWI) (b = 0 and 700 seconds/mm(2)) was performed with a General Electric Company (GE) Signa 1.5T MR unit in 46 infants suffering single congenital hydronephrosis and in 30 healthy infants as normal control group. The ADCs were calculated with regions of interest (ROIs) positioned in the renal parenchyma. The 46 obstructed kidneys were classified into four groups according to the GFR level: renal dysfunction compensated group, renal dysfunction decompensated group, renal failure group, and uremia group. The renal ADCs in six groups (normal kidneys in control group, contralateral kidneys, and four groups of hydronephrotic kidneys) were compared statistically using analysis of variance (ANOVA), and the correlative relationship between ADCs and GFR was examined by Pearson's correlation test. There were statistically significant differences in renal ADCs among the six groups. The ADCs of hydronephrotic kidneys were lower than that of the normal kidneys. There was a moderate positive correlation between the ADCs of hydronephrotic kidneys and split GFR (r = 0.744). This study indicated that the ADCs of congenital hydronephrotic kidneys were lower than that of normal renal parenchyma, and there was a positive correlation between the ADCs and split renal GFR, which demonstrates that the ADCs can reflect the filtration function of hydronephrotic kidneys and may provide some reference to help clinical physician to explore a novel noninvasive approach to evaluate the single renal function.

One of the most common causes of congenital hydronephrosis is obstruction of the ureteropelvic junction. The obstruction can be detected with prenatal ultrasonography screening and treated before renal function is reduced; the obstruction may also resolve spontaneously. Currently, there is no test for predicting the outcome of this obstruction. Management guidelines for neonates with asymptomatic obstruction of the ureteropelvic junction are based on expert opinions, but not on evidence-based data. In our retrospective study, we evaluated management and outcome of 26 renal units in 23 infants (15 boys, 8 girls) with congenital obstruction of the ureteropelvic junction treated in our institution between 1986 and 2001. These infants had isolated hydronephrosis on prenatal and postnatal sonography, showed an obstructive curve pattern in the postnatal diuretic nephrogram and had at least one follow-up nephrogram during a follow-up period of at least 1.5 years. Of these renal units, 16 demonstrated normal function (group I), five moderate function (group II) and five severely reduced function (group III). In group I, 6 of 12 primarily conservatively managed kidneys resolved spontaneously and remained normal in function. In group II, all infants were operated and 83% improved their kidney function. In group III, all infants were operated but none demonstrated relevant improvement. These data support the current expert opinion of the Arbeitsgemeinschaft Padiatrische Nephrologie (APN) that ureteropelvic junction obstruction in neonates with normal renal function can be managed primarily conservatively with close monitoring. In neonates with moderately – but not with severely – reduced renal function, early surgery is effective in the prevention of deterioration.

OBJECTIVE To discuss the main steps of renographic technique and underline some pitfalls related to the acquisition, processing and interpretation of diuretic renography, an important method for guiding the management of asymptomatic congenital hydronephrosis. METHODS Despite guidelines and consensus protocols, renographic procedures differ among centres, causing difficulties in comparison and controversy in the interpretation of results. Thus we comprehensively assessed published papers on the subject of diuretic renography. RESULTS Differential renal function (DRF) is a robust measure provided there is adequate background subtraction. Pitfalls are related to the drawing of regions of interest, particularly in infants, to estimating the interval during which DRF is calculated, and to an adequate signal-to-noise ratio. There is no definition of a 'significant' reduction in DRF. The classical variables of the diuretic renogram may not allow an estimate of the best drainage. Poor pelvic emptying may be apparent because the bladder is full and because the effect of gravity on drainage is incomplete. Estimating the drainage as residual activity rather than any parameter on the slope might be more adequate, especially if the time of frusemide administration is changed. Renal function and pelvic volume can influence the quality of drainage. Drainage may be better estimated using new tools. CONCLUSION Provided the investigation is standardized and potential pitfalls accounted for, the diuretic renogram provides valuable and reproducible quantitative information on DRF and drainage.

Elsevier, HIDEHIRO, KAKIZAKI ; KIMIHIKO, MORIYA ; KANAME, AMEDA ; TAKASHI, SHIBATA ; HIROSHI, TANAKA ; TOMOHIKO, KOYANAGI, The Journal of urology, 169(2), 2003, 655-658. author, Purpose: Voiding cystourethrography is a diagnostic procedure widely used to evaluate lower urinary tract abnormalities in children. In children with and without suspected voiding dysfunction we measured the internal diameter of the external urethral sphincter on voiding cystourethrography to evaluate its diagnostic accuracy as a predictor of detrusor-sphincter incoordination. Materials and Methods: In part 1 of the study 59 boys and 37 girls with normal voiding function underwent voiding cystourethrography. In each child 1 to 6 voiding cystourethrograms (mean 2.1) were performed as a part of urological evaluation. Thus, a total of 200 voiding cystourethrograms were obtained. Underlying urological disease was primary vesicoureteral reflux in 57 cases, congenital hydronephrosis in 9, urinary tract infection in 6, ureteral anomalies in 11 and other in 13. To determine external urethral sphincter inner diameter on a given voiding cystourethrogram the sphincter was measured on consecutive images and the widest diameter was chosen. In part 2 of the study 43 children with suspected voiding dysfunction underwent voiding cystourethrography and external urethral sphincter electromyography. Electromyography results were comparatively analyzed with external urethral sphincter data. Results: In part 1 an age dependent increase in external urethral sphincter inner diameter was noted in children with normal voiding function. External urethral sphincter inner diameter in mm. was determined by the formula, 0.166 × age in years + 4.31 in boys (p = 0.0001, r = 0.374) and 0.222 × age in years + 2.73 in girls (p

The estimation of differential renal function from dynamic renography affects clinical decisions. The estimation requires the kidneys to be delineated with regions of interest. However, in the presence of unilateral hydronephrosis it is not unusual for the affected kidney to be enlarged so that the regions of interest required to delineate the normal and abnormal kidneys are themselves dissimilar in size. The question, which then arises is, will this difference in the sizes of the regions of interest affect the resultant estimation of differential renal function? Eighteen children aged 1 month to 7 years, with prenatal ultrasound diagnosis of unilateral hydronephrosis where the affected kidney was larger than the normal kidney, underwent a total of 57 diuretic renograms using 99mTc-mercaptoacetyltriglycine. The renographic data were retrieved from optical disc and re-analysed. Regions of interest were generated which enclosed each kidney plus a region of interest of equal size to the abnormal large kidney was placed over the normal kidney. The consensus report from the Scientific Committee of Radionuclides in Nephrology described the Rutland-Patlak plot and integral methods for the estimation of differential renal function from dynamic renography. These two methods were used to analyse renal curves with and without background subtraction. Evaluation of the results suggest that technical factors, including the size of the region of interest, may affect differential renal function, and may, in part, explain the reports of the super-normal kidney in the literature.

The electronic health record is becoming central to routine medical practice and has the potential to facilitate large scale clinical research. We evaluated the completeness and accuracy of data collection using designated research fields integrated into a semistructured clinical note. We hypothesized that prospective research data collection as part of routine clinical charting is feasible, with a high rate of utilization (greater than 80%) and accuracy (kappa greater than 0.80).Infants with congenital hydronephrosis were followed prospectively at a single institution. Existing functionality in the electronic health record was used for data collection by creation of 28 different data elements captured from a hydronephrosis note or phrase template. Completeness (percent utilization) was calculated and accuracy was assessed by comparing the structured data to manual chart review. Comparisons were conducted using the chi-square test, with 2-tailed p values0.05 considered statistically significant.A total of 80 patients were eligible for manual chart review. Data were recorded through template use in 64 patients for an overall completeness of 80.0%. Of 28 elements 17 (60%) demonstrated "almost perfect" agreement (kappa greater than 0.80), and all variables reached at least "moderate" agreement (greater than 0.40).Integrating research fields into routine clinical practice is feasible by using semistructured clinical templates within an electronic health record. High completion and accuracy rates were captured from a variety of fields within a hydronephrosis template.

El control posnatal del feto con pielectasia ha sido objeto de controversia en la bibliografía reciente. La definición de pielectasia, la necesidad de estudiar o no a todos estos recién nacidos con el objetivo teórico de prevenir la nefropatía por reflujo y las infecciones urinarias, qué exploraciones hacerles y cuándo (ecografía posnatal, cistografía sistemática, estudios isotópicos), y si es necesario someterlos o no a profilaxis antibiótica, son aspectos que no están suficientemente aclarados. Tampoco la relación entre pielectasia prenatal, reflujo vesicorrenal e infección parece lineal.Este artículo intenta ordenar las controversias actualmente existentes al respecto, comentando finalmente el papel de las alteraciones genéticas en el desarrollo de los distintos tipos de nefropatía y malformaciones renales. : Postnatal follow-up of fetal pyelectasis is a controversial topic in recent literature.Questions such as the definition of pyelectasis, whether these neonates should be selected for postnatal study in an attempt to prevent reflux nephropathy and urinary tract infections, which complementary investigations (postnatal ultrasonography, cystourethrography, isotopic studies) should be performed and when, and whether these neonates should be administered antibiotic prophylaxis are unresolved issues. In addition, the relationship between prenatal pyelectasis, vesicoureteral reflux and infections is not at present clear.In this article, we try to review and order the present controversies, and briefly introduce the role of genetic aspects in the origin of different forms of nephropathy and renal malformations.

PURPOSE Prenatal detection of congenital hydronephrosis has raised new questions with regard to the need of management and the indications for operation. Moreover, there is considerable controversy whether or not pyeloplasty improves long-term renal function. We evaluated the operative results of this entity under the setting of well defined indications for surgery. MATERIALS AND METHODS The indications for pyeloplasty included Society for Fetal Urology-grade (SFU-grade) 3 and grade 4 hydronephrosis on ultrasonogram together with obstructive pattern on modified "Well Tempered" diuretic renogram. We analysed the postoperative changes of ultrasonographic findings, differential renal function, and renogram patterns in 28 children with unilateral hydronephrosis detected prenatally. RESULTS Of the patients, 27 had grade-4 hydronephrosis on preoperative ultrasonogram. Pyeloplasty was effective in decreasing the grade of dilatation in all kidneys except one. Of the involved renal units, 14 (50%) had reduced differential renal function less than 45% on the preoperative renogram. Differential renal function increased significantly by absolute value of 5% or greater in 8 kidneys (29%), but decreases in 5 kidneys (18%). In the remaining 15 kidneys (54%) there was no significant differences between pre- and post-operative differential renal function. Postoperative diuretic renogram changed to non-obstructive pattern in 26 kidneys (93%). Another 2 kidneys showed hypofunctioning pattern. CONCLUSIONS The results suggest that, although pyeloplasty decreases ultrasonographic dilatation of hydronephrosis and improves excretory pattern of diuretic renogram, significant increase of differential renal function is expected in only one third of the involved kidneys.

腎盂形成術を加えた一側性の先天性水腎症34例34腎において，腎生検所見と腎シンチグラムによる相対的腎摂取率を検討した。腎組織所見の内では糸球体病変は軽度で，尿細管の拡張が特徴的であった。なかでも近位尿細管は正常であるにもかかわらず，遠位尿細管が拡張した症例が多くみられた。間質には炎症細胞浸潤と線維化の所見がみられた。腎異形成所見は認められなかった。組織変化と手術前後の分腎機能を比較すると，間質の増殖あるいは炎症細胞浸潤が強く見られた水腎では分腎機能が40%以下を示しており，術後にも機能が改善した腎はなかった。しかし，尿細管の拡張が高度であっても，術後に機能が改善した症例 がみられた。

We investigated whether oxybutynin could lower elevated renal pelvic pressures measured in a rat with an inbred unilateral congenital hydronephrosis. Simultaneous renal pelvic and bladder pressures were measured in 8 hydronephrotic rats and compared to those of 10 hydronephrotic rats treated with intravenous injection of 1.6 mg./kg. oxybutynin. Pressures were recorded at different urinary flow rates and during bladder filling and emptying. Hydronephrotic rats not given oxybutynin showed significantly higher renal pelvic pressures (e.g. p-bladder at 50% capacity = 8.9 +/- 3.1 cm. H2O, corresponding p-pelvis = 20.8 +/- 2.1 at very high urinary flow rates) than rats treated with oxybutynin. The latter had renal pelvic pressures similar to rats with normal non-hydronephrotic kidneys (e.g. p-bladder at 50% capacity = 10.1 +/- 3.5 cm. H2O, corresponding p-pelvis = 6.3 +/- 1.1 at very high urinary flow rates). Renal pelvic pressures were, moreover, lower than corresponding bladder pressures in contrast to the untreated hydronephrotic pelvic pressure that exceeded bladder pressure. This effect of oxybutynin in lowering elevated renal pelvic pressures in the obstructed kidney has not been described before and suggests a possible role for oxybutynin in this condition.

We report a 6 month old boy with congenital hydronephrosis, cleft palate, severe hypotonia, congenital heart defect, developmental delay, and characteristic facial features with an open mouthed appearance and full lower lip, who we believe is the third reported case of Okamoto syndrome. Okamoto syndrome is a recently described distinctive multiple congenital anomaly syndrome encompassing the above features for which an etiologic factor has not yet been identified. Our patient also had idiopathic splenomegaly and non-specific MRI changes in the brain, not reported in the first two cases.

BACKGROUND AND OBJECTIVES: Antenatally detected urinary tract abnormalities (ADUTA) are increasingly recognized. Our aims were to determine the incidence and outcomes of antenatally diagnosed congenital hydronephrosis in a large cohort. DESIGN AND SETTINGS: We recorded the number of total deliveries over 4 years at King Abdulaziz University Hospital (KAUH) between January 2008 and December 2011 from the number of nursery and neonatal intensive care unit (NICU) admissions. PATIENTS AND METHODS: We reviewed the records of 18 853 deliveries between January 2008 and December 2011 at KAUH, Saudi Arabia. ADUTA were recorded, and their postnatal medical records were reviewed for demographic and radiological data. RESULTS: ADUTA were diagnosed in 327 fetuses (1.7%). The commonest pathology was congenital hydronephrosis (n=313, 95.7%). Cystic renal anomalies were reported in 4 babies (1.2%), and 10 children (3.1%) were reported to have other renal anomalies, including duplex kidneys or a single kidney. A total of 240 babies with congenital hydronephrosis were followed up. Hydronephrosis resolved in 99 children (41.2%) within 2 months of birth. A total of 29 subjects had underlying renal anomalies (12.1%), including vesicoureteral reflux (n=12, 5%), pelvi-ureteric junction obstruction (n=14, 5.8%), and posterior urethral valve (n=3, 1.3%). The best predictor for nonresolving congenital hydronephrosis and underlying anatomical abnormalities was the anteroposterior diameter on the first postnatal scan. A cut-off point of 5 mm was found to be 83% sensitive in predicting nonresolving hydronephrosis, while 7 mm was 88% sensitive and 10 mm was 94% sensitive. CONCLUSIONS: Congenital hydronephrosis is the commonest ADUTA. A large percentage resolved within 2 months of birth, but underlying anatomical abnormalities were found in 12.1%. All babies with antenatally detected hydronephrosis should be examined by ultrasound postnatally but further radiological investigations should only be performed for persistent significant AP dilatation ≥10 mm.

Experimental hydronephrosis induced by partial ureteral obstruction at 3 wk of age causes hypertension and renal impairment in adult rats and mice. Signaling by Ephrin receptors (Eph) and their ligands (ephrins) importantly regulates embryonic development. Genetically modified mice, where the cytoplasmic domain of the EphA4 receptor has been substituted by enhanced green fluorescent protein ( EphA4 gf/gf), develop spontaneous hydronephrosis and provide a model for further studies of the disorder. The present study aimed to determine if animals with congenital hydronephrosis develop hypertension and renal injuries, similar to that of experimental hydronephrosis. Ultrasound and Doppler techniques were used to visualize renal impairment in the adult mice. Telemetric blood pressure measurements were performed in EphA4 gf/gf mice and littermate controls ( EphA4 +/+) during normal (0.7% NaCl)- and high (4% NaCl)-sodium conditions. Renal excretion, renal plasma flow, and glomerular filtration were studied, and histology and morphology of the kidneys and ureters were performed. EphA4 gf/gf mice developed variable degrees of hydronephrosis that correlated with their blood pressure level. In contrast to EphA4 +/+, the EphA4 gf/gf mice displayed salt-sensitive hypertension, reduced urine concentrating ability, reduced renal plasma flow, and lower glomerular filtration rate. Kidneys from EphA4 gf/gf mice showed increased renal injuries, as evidenced by fibrosis, inflammation, and glomerular and tubular changes. In conclusion, congenital hydronephrosis causes hypertension and renal damage, similar to that observed in experimentally induced hydronephrosis. This study further reinforces the supposed causal link between hydronephrosis and later development of hypertension in humans.

The Schinzel-Giedion syndrome is characterized by severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations. So far, 20 patients have been reported. This is the first report of the syndrome demonstrated in Oriental patients. In surviving patients, severe growth and developmental deficiency is a common finding.

For conservation and restoration of the urinary tract functions plastic and reconstructive surgery is essential and significant, especially in cases of congenital anomalies. As representative procedures of plastic urological surgery, the techniques, indications and results of plastic repairs for hydronephrosis, anti-reflux procedure for vesicoureteral reflux (VUR) and urethroplasty for hypospadias were presented. During 17 years from Jan. 1977 to Feb. 1994, 503 cases in total underwent these types of urological plastic surgery, namely, 140 cases with hydronephrosis, 226 cases with VUR, and 137 cases with hypospadias. Postoperative courses were uneventful in all of them and the results were satisfactory. The operative technique of choice in pyeloplasty was that of Anderson-Hynes, and in anti-reflux procedure was that of Politano-Leadbetter. In urethroplasty for hypospadias the techniques of choice were SATO I in case of posterior hypospadias and SATO II in case of anterior hypospadias, respectively.

19歳男.ボクシング練習中に上腹部正中に軽いパンチを受け, その夜左側腹部の激痛により左腎外傷の疑いで入院となった.腹部理学所見でブルンベルグ兆候を認めた.又, 検査で白血球上昇と腎機能障害を認めた.CTで後腹膜腔に大量の液体貯留を認めた.腹腔内には液体の貯留は無く, 他臓器に損傷も無かった.外傷による左水腎症破裂を考え, 8Frピッグテイルカテーテルを挿入した.穿刺液は尿と確認された.翌日のCTでもまだ液体の大量貯留が確認され, 7Feピッグテイルカテーテルを挿入した.3日目に尿量は正常となったが, ドレナージが不十分で, 腹部鈍痛, 嘔気, 嘔吐など消化器症状があり発熱も継続した為左腎摘出術を施行した.腹膜及び筋膜との癒着は軽度で膿瘍形成もなく, Gerota筋膜ごと腎を摘出した.病理で腎盂尿管移行部狭窄による先天性水腎症と診断された.術後, 消化器症状は改善し10日目に退院した, A 19-year-old male patient was admitted with the chief complaint of left abdominal pain. After receiving a mild punch in the abdomen during boxing exercises, he had severe abdominal pain and was brought to an emergency room. Since abdominal CT scanning revealed the retention of massive fluid in the retroperitoneum, hydronephrotic rupture due to the trauma was diagnosed and nephrectomy was performed. The removed kidney was filled as a result of urinary retention, and congenital hydronephrosis accompanied by the ureteropelvic junction obstruction was macroscopically and pathohistologically diagnosed. Postoperative course was favorable and the patient was discharged on the 10th hospital day.

87 kidneys of 75 patients with congenital hydronephrosis operated in the Department of Urology, Niigata University Hospital from 1983 to 1990 were reviewed. Major causes of obstruction were pelviureteral junction stenosis (61 kidneys, 70.1%) and uretero-vesical junction stenosis (12 kidneys, 13.8%). In the last 4 years, number of cases diagnosed antenatally has increased. Residual renal function was evaluated mainly by DMSA renal uptake and degree of stenosis was evaluated by DTPA renography with furosemide and pressure-flow study of renal pelvis. From 1984, preliminary nephrostomy operation was performed percutaneously with ultrasound apparatus. Most of pyeloplasty operations and uretero-vesico neostomy operations were performed according to Anderson Hynes method and Paquin's method respectively. Success rate of plastic operations were 83.9% and 72.5% by IVP and DMSA renal uptake respectively. Renal function improved in every cases if obstruction was released before 6 months old.

Erratum in J Pediatr Urol. 2009 Jun;5(3):250 Objective: To describe prevalence, prenatal diagnosis and epidemiology of congenital hydronephrosis (CH) in Europe. Material and method: Data from a large European database for surveillance of congenital malformations (EUROCAT). The 20 participating registries are all based on multiple sources of information and include information about livebirths, fetal deaths with gestational age 20 weeks and terminations of pregnancy after prenatal diagnosis of malformations. Included were all cases with CH and born 1995e2004. Results: There were 3648 cases with CH giving an overall prevalence of 11.5 cases per 10,000 births. The large majority of cases were livebirths (3506, 96% of total) and only 17 cases were fetal deaths and 120 were terminations of pregnancy. Almost all livebirths were alive 1 week after birth. Boys accounted for 72% of all cases. A high proportion of the cases (86%) had an isolated renal malformation. There were large regional differences in prevalence of CH ranging from 2 to 29 per 10,000 births. There was little regional variation in the prevalence of postnatally diagnosed cases while there were large regional differences in prevalence of prenatally diagnosed cases. Conclusion: Cases with CH are mainly livebirths, boys and survive the first week after birth. The large difference in prevalence seems to be related to the availability of prenatal screening in the region. The impact of over-diagnosis and potential over-treatment in regions with high prevalence or under-diagnosis with implications for renal function later in life in regions with low prevalence needs further investigation.

2歳未満の先天性水腎症29例の臨床的検討を行い, また乳幼児期先天性水腎症の診断と治療において問題提起する代表的症例を提示し, 診断と治療法について述べた.1) UPJ狭窄の部位や程度ならびに機能が症例によって異なること, また乳幼児では身体が発育し, 発達することを考慮に入れて手術の適応を決めるべきと考えられた.2)腎保存か否かの判定に造影後CTスキャンとMRIのT1強調画像が有用であった.3) Anderson-Hynes法による手術成績は良好であったが, 手術侵襲が少ない内視鏡手術の発展が期待される, Twenty nine children under 2 years old with congenital hydronephrosis have been treated in the last 14 years in our department. We report 4 cases which we found difficult to diagnose and treat. The diagnosis and the treatment of congenital hydronephrosis in children are discussed, especially concerning those patients under the age of 2 years. Pyeloplasty has been performed in 28 renal units out of 35 renal units. The results of the procedure were good in 82.1%, fair in 10.7%, no change in 3.6% and a lost case in 3.6%. The Aderson-Hynes dismembered technic was employed except for one renal unit in which the extrarenal pelvis was resected. Hydronephrosis in two renal units and one with nephrostomy for one year and one month improved spontaneously. Endopyelotomy was performed in 2 renal units and will be performed in one renal unit. Nephrectomy was carried out in one renal unit with renal dysplasia. A kidney with dysplasia excreted urine of several ml/day. Post-enhanced-X-ray computed tomography and T1-weighted image of magnetic resonance presented loss of function in the kidney. Degree of stenosis, position of stenosis and function of pelvis and ureter were different in each child. Children are constantly growing up and the condition of stenosis was changed in some cases. In conclusion, we should estimate the stenosis in children using several examinations.

We report the clinical and genetic evaluation of a 2-year-old Greek female with striking phenotypic similarities to the three previously published cases of Okamoto syndrome. The main features were characteristic facies, cleft palate, generalized hypotonia, severe developmental delay, congenital hydronephrosis, and congenital heart defects. Routine chromosome testing and whole-genome high-resolution comparative genetic hybridization analysis were negative for any gross numerical or structural chromosome aberrations and for microdeletions/duplications of more than 3 million base pairs respectively. Fluorescence in situ hybridization analysis for 22q11.2 deletion and DNA analysis of the protein tyrosine phosphatase, non-receptor type II gene were normal, thus excluding DiGeorge and Noonan syndromes. Our patient did not show most of the cardinal features of Schinzel-Giedion, otopalatodigital, and C-trigonocephaly syndromes. Moreover, in our patient some new malformations were identified: unilateral kidney hypoplasia and severe anal stenosis. The latter was considered as pertinent and is described here to establish a wider clinical spectrum of Okamoto syndrome. At the age of 3 years 6 months the child continues to show severe growth failure and significant global developmental delay. For the practising paediatrician it is prudent to bear Okamoto syndrome in mind, especially in children with learning disability and a pattern of dysmorphic features.

The aim of this study was to investigate the genetic basis of congenital hydronephrosis (HN), a poorly defined pathological entity, with a rat model. The Brown Norway (BN) strain spontaneously presents a high incidence of apparently asymptomatic HN, whereas the LOU strain does not. A backcross was established between these two strains [BN × (BN × LOU)] and a genomewide scan was performed with 193 microsatellite markers on 121 males and 118 females of this population, which had been phenotyped and scored for HN severity (defined as degree of renal pelvic dilation), followed by linkage analysis with Mapmaker/QTL software. Bilateral HN score was significantly linked to a locus on chromosome 6 ( Z scores 4.4 and 4.8 for all rats and for females, respectively). Suggestive loci were identified on chromosomes 2 (for only right-sided HN) and 4. This is the first study in rats to identify genetic loci for HN. Three candidate genes present in these loci were sequenced and insertions detected in Id2 and Agtr1b genes in BN, which did not, however, lead to modified expression as measured by quantitative PCR. Production of a congenic line for part of the chromosome 6 locus confirmed its involvement in HN, but the phenotype was mild. Evidence of hematuria was observed in 9.6% of the backcross rats, mostly males and only in kidneys with HN, but not necessarily in the most severely affected. Hematuria also occurs in the BN colony used here, where it is due to papilloma-like lesions involving pelvic epithelial proliferation, but not in the LOU rat.

PubMedID: 17880960 Objective: To report the inheritance of a pericentric inversion in chromosome 7 through the three progenies, congenital hydronephrosis, and recurrent miscarriages in an extended family. Design: Case report. Setting: Medical Faculty of Cukurova University in Turkey. Patient(s): Referred by obstetrics and gynecology clinic. Intervention(s): Fetal urine and lymphocytic karyotype. Main Outcome Measure(s): Chromosomal analysis from fetal urine and peripheral blood lymphocytes were performed according to standard cytogenetic methods. Result(s): We assessed an extended family in which a large pericentric inversion in chromosome 7 is segregating; one of the three progenies with the karyotype 46,XY,inv(7)(p22;q22) was heterozygote for the inversion and presented with congenital hydronephrosis. His mother, mother's brother, grandfather, grandfather's brother, and his daughter were similar for the inversion. Conclusion(s): This case describes the further molecular characterization of these breakpoints on the short or long arm of chromosome 7(p22-q22). The inv(7) is also associated with fetal wastage and may be playing a role in the etiology of the family's miscarriages. These findings can be used in clinical genetics and may be an effective tool for reproductive guidance and genetic counseling. © 2008 American Society for Reproductive Medicine.

The authors discuss a 1-day-old boy who had Schinzel-Giedion syndrome. This is the fifth case reported in the literature, and it presents additional abnormalities that have not been reported previously. The Schinzel-Giedion syndrome includes facially dysmorphic, skeletal, cardiac, and genitourinary anomalies, but mainly congenital hydronephrosis. The diagnosis can be made by clinical and radiological examinations.

Ureteropelvic junctions surgically taken from twelve patients with congenital hydronephrosis were submitted to stereo-morphometric studies on the architectural changes of smooth muscle layer. The specimens were opened longitudinally along the ureteral axis, flatly extended on a board, fixed in formalin and embedded in celloidin-paraffin. Serial histological sections in parallel with the wall were prepared; the 3D muscular architecture, visualized in some cases by computer-aided reconstruction, was simplified into vectors of bundles so that their arrangement might be expressed by a vector distribution. Deviation from the norm of architecture at the ureteropelvic junction was disclosed: Reduced muscles with increased connective tissues in four cases and disarrangement of bundles in eight cases, including two with predominantly longitudinal element, three with circular element and another three with irregular orientation. These abnormalities, probably reflecting abnormal maturation of muscles, appear to be related with the urinary obstruction in patients with congenital hydronephrosis.

A quick noninvasive screen of laboratory animal organ phenotype by high-resolution ultrasound is useful in biomedical research and new drug discovery. During new drug testing, imaging animal at the conscious state avoiding anaesthesia does not only speed up the screening process, but also avoids the potential compound- ing interaction of anaesthetic agents with the new drugs. The feasibility of imaging kidney in conscious rats with high-frequency ultrasound was explored in this study. Two operators were involved with the procedure, with one operator holding the rat and the other operator doing the imaging process. A VisualSonics ultrasound system was used, with a 30 MHz central frequency probe at the resolution of 115 55 m. It was feasible to hold the conscious rats still, allowing ultrasound imaging of kidneys, without causing stress to the animals. In a group of 12 male Han Wistar rats (Charles River, UK), two cases of unilateral congenital hydronephrosis of the right kidney were identified. The right kidneys with hydronephrosis showed an echolucent dilated pelvis and overall parenchymal hypotrophy. (E-mail: yixiang_wangmd@yahoo.co.uk) © 2007 World Federation for Ultrasound in Medicine & Biology.

Udgivelsesdato: 2006-Aug OBJECTIVE: To evaluate the role of renal resistive index (RI) measures in the diagnostic work up of congenital hydronephrosis. METHODS AND MATERIALS: Seventeen neonatal pigs were randomized to either left-sided partial unilateral ureteral obstruction (n=12) or sham operation (n=5) at 2 weeks of age. Serial investigations including B-mode ultrasound, RI measures and combined clearance/renographic evaluations were performed at 4, 12 and 24 weeks of age under light sedation. Results were analysed statistically, and receiver operating characteristic (ROC) curves were generated in order to evaluate the diagnostic efficacy of RI. RESULTS: In all, 15 animals completed the study protocol. In the obstructed group, hydronephrosis and significant compromise of renal function developed on the subject side, whereas sham-operated pigs had stable renal morphology and function throughout the study. There were however no significant differences in RI or DeltaRI between the two groups at any age, or between right and left RIs in the obstructed group at any point. RI and DeltaRI had no prognostic or diagnostic value as judged by ROC curve analysis. CONCLUSIONS: RI and DeltaRI were not affected by partial unilateral ureteral obstruction induced in the immature neonatal porcine kidney. The results of this study do not support the clinical use of Doppler ultrasound studies in the diagnostic work up of congenital hydronephrosis.

Clinical findings, management, and possible linkage of congenital hydronephrosis caused by ureteropelvic junction stenosis to the HLA complex were studied in four families. These families provide evidence of possible autosomal dominant inheritance. HLA class I antigen studies in all four and class II (HLA-DR) in three families were performed. These studies failed to show close linkage to the chromosome 6 markers in two families but there was consistent inheritance in the other two. Although formal linkage calculations are not presented, it is apparent that in some families HLA haplotyping is not useful in predicting prevence of renal obstruction.

Objective The management of antenatally diagnosed ureteropelvic junction obstruction (PUJO) is controversial. Here, we present our experience over a period of 13 years and discuss our management protocol. Materials and methods We reviewed the files of 234 patients with antenatally diagnosed congenital hydronephrosis due to PUJO. Management was tailored to each patient, based on a combination of diethylenetetraminepentacetic acid renogram outcome, pelvic diameter, as well as the patient’s symptoms. Results Pyeloplasty was carried out early in 52 kidneys. Of the total, 182 patients were managed expectantly. Out of these, 45 underwent delayed pyeloplasty. The remaining 137 patients (189 units) were managed non-operatively. In patients who underwent early pyeloplasty, the mean split differential renal function was 37% before and 40.05% after surgery. In those with delayed intervention, the mean renal function was 37.8% before and 42.2% after surgery. In patients who did not have surgery, the mean differential renal function was 45.7% initially and 48.2% at the last accepted follow up. The overall operative success rate was 97.9%. Conclusion We believe that pyeloplasty is the proper treatment for babies with congenital PUJO and 35 mm at the initial visit. In other patients a period of observation is warranted, and pyeloplasty should be carried out only if their kidney function deteriorates or the renogram curve does not show improvement. With the excellent results of pyeloplasty we believe that a safer approach is to operate on more kidneys rather than risk of losing valuable kidney function.

List of key featuresCleft palateHydronephrosisPtosisCongenital hip dysplasiaIntellectual disabilityOkamoto syndrome, also known as congenital hydronephrosis with cleft palate, characteristic facies, hypotonia, and mental retardation (OMIM 604916), originally described by Okamoto et al. (1997), is a

The incidence of congenital hydronephrosis is ∼1% and is often associated with renal insufficiency. It is unknown whether early release is essential to prevent deterioration of renal function. Rats were subjected to partial unilateral ureteral obstruction (PUUO) on postnatal day 2. The obstruction was left in place or released after 1 or 4 wk. Renal blood flow (RBF) and kidney size were measured sequentially over 24 wk using MRI. In rats in which the obstruction was left in place, RBF of the obstructed kidney was progressively reduced to 0.92 ± 0.17 vs. 1.79 ± 0.12 ml·min−1·100 g body wt−1( P < 0.05) after 24 wk. Similarly, glomerular filtration rate of the obstructed kidney was severely reduced at 24 wk: 172 ± 36 vs. 306 ± 42 μl·min−1·100 g body wt−1( P < 0.05). These changes were preceded by development of severe hydronephrosis and obstructive nephropathy with a reduction in total protein content: 45 ± 3 vs. 58 ± 4 mg/kidney. Moreover, nonreleased PUUO caused a marked natriuresis (0.32 ± 0.07 vs. 0.11 ± 0.02 μmol·min−1·100 g body wt−1, P < 0.05) and impaired solute free water reabsorption (0.47 ± 0.16 vs. 2.71 ± 0.67 μl·min−1·100 g body wt−1, P < 0.05), consistent with a significant downregulation of Na-K-ATPase to 62 ± 7%, aquaporin-1 to 53 ± 3%, and aquaporin-3 to 53 ± 7% of sham levels. Release after 1 wk completely prevented development of hydronephrosis, reduction in RBF and glomerular filtration rate, and downregulation of renal transport proteins, whereas release after 4 wk had no effect. These results suggest that early release of neonatal obstruction provides dramatically better protection of renal function than release of obstruction after the maturation process is completed.

A case of double inferior vena cava associated with congenital hydronephrosis is reported. A 6-year-old girl was referred to our hospital with the chief complaint of severe left flank pain of sudden onset which occurred after she fell down some steps. Abdominal computerized tomographic (CT) scan revealed a huge perinephric urinoma, severe left hydronephrosis with obstructive atrophy and double inferior vena cava. Left nephrectomy was performed under a diagnosis of traumatic rupture of the left renal pelvis associated with left congenital hydronephrosis and double inferior vena cava. Rupture of the renal pelvis and ureteropelvic junction obstruction with severe parenchymal thinning were found. The postoperative course was uneventful. Double inferior vena cava is a relatively rare anomaly and most cases in recent years have been incidentally found by ultrasonography and CT scan. Urologists should keep in mind the possibility of this anomaly of the inferior vena cava, especially when reforming left nephrectomy.

Background and aims Fetal hydronephrosis is the most common anomaly detected on prenatal ultrasound examination. Several algorithms exist for its management but it remains controversy until now. Here we present our experience in management and outcome of the patients with prenatal hydronephrosis. Methods In this study 160 known cases of prenatal hydronephrosis were evaluated for detecting underlying aetiology. We carried out renal and bladder sonography and voiding cystourethrography (VCUG) for all patients and DTPA scan in cases with suspicion of obstruction. Results Of 160 cases of prenatal hydronephrosis 75% were boys and 25% were girls. The mean duration of postnatal follow up was 21.5 months (3 months to 36 months). The most common detected abnormalities were ureteropelvic junction obstruction (UPJO) 90 patients,vesicoureteral reflux (VUR) 46 patients, posterior urethral valve (PUV) 15 patients respectively. Nine patients had neurogenic bladder. Prenatal hydronephrosis were unilateral in 83.2% (133 cases). In these cases 57% were on the left side . The grade of reflux was severe in 20 renal units (36.4%), moderate in 24 renal units (43.6%), and mild in 11 renal units (20%). During the follow up period 50 cases (31.25%) resolved spontaneously. 34 cases (21.25%) underwent surgery and 76(47.5%) are still under medical treatment. Conclusions It is highly suggested to do standard VCUG in all boys with prenatal hydronephsis to detect PUV and neurogenic bladder. Additionally, renal sonography in all cases of congenital hydronephrosis and DTPA in cases with indication is recommended.

To confirm the key role of vascular malformation by ultrasound examination and to make a more detailed study of the manifestations of dysnephro- and angiogenesis.The study enrolled 34 children aged 3 days to 7 years with congenital hydronephrosis, who were divided into 3 groups in accordance with the degree of renal hemodynamic disorders, the criterion for which was a resistive index (RI).The performed electron microscopic study revealed the signs of malformed vessels of all diameters, as well as hypoplastic changes in the renal parenchyma in children of all ages in all the groups. The most significant ultrastructural signs demonstrating a close correlation between dysangio- and dysnephrogenetic processes are the uniformity of structural failure in the glomerular and arteriolar basement membrane, which shows up in the irregularity of its thickness and obliteration of its layers, as well as the immaturity of endothelial cells of both glomerular and arteriolar capillaries (large sizes and a round shape). The important factor confirming their relationship is a direct correlation between the increased RI in all branches of the renal artery as hypoplastic changes progress in the parenchyma of hydronephrotic kidneys.The investigation demonstrated the interdependence of dysangio- and dysnephrotic processes in children with congenital hydronephrosis.Цель исследования - ультраструктурное подтверждение ключевой роли сосудистой мальформации и более детальное изучение проявлений дизнефро- и ангиогенеза. Материал и методы. В исследование включены 34 ребенка с врожденным гидронефрозом в возрасте от 3 дней до 7 лет, которые разделены на три группы в зависимости от степени нарушения гемодинамических показателей почки, критерием чего выступил индекс резистентности (ИР). Результаты. Проведенное электронно-микроскопическое исследование выявило у детей всех возрастов во всех группах наличие признаков сосудистой мальформации артерий всех калибров, а также гипопластические изменения почечной паренхимы. Наиболее значимыми ультраструктурными признаками, демонстрирующими тесную связь между процессами дизангио- и дизнефрогенеза является однотипность нарушения строения базальной мембраны гломерул и артериол, что проявляется неравномерностью ее толщины и стертостью слоев, а также незрелость эндотелиальных клеток как капилляров гломерул, так и артериол (крупный размер и округлая форма). Важным фактором, подтверждающим их взаимосвязь, является прямая корреляция между повышением значений ИР на всех ветвях почечной артерии по мере нарастания тяжести гипопластических изменений в паренхиме гидронефротически измененных почек. Заключение. Продемонстрирована взаимообусловленность процессов дизангио- и дизнефрогненеза у детей с врожденным гидронефрозом.

The Schinzel-Giedion syndrome is a rare autosomal recessive condition with typical facies, skeletal manifestations and congenital hydronephrosis. We report an infant with characteristic findings who had bilateral congenital megacalyces. Congenital megacalyces is believed to be a developmental abnormality, occurs in other malformation syndromes and has not previously been described in the Schinzel-Giedion syndrome.

1477-5131/$36 a 2009 Journal of Pediatric Urology Company. Publishe doi:10.1016/j.jpurol.2009.03.003 Vaud, Switzerland, Marian K. Bakker, Groningen, The Netherlands, Gioacchino Scarano, Campania, Italy, Awi Wiesel, Mainz, Germany, Johanna Costigan, South-East Ireland, Mary T O’Mahony, Cork, Ireland, David Tucker, Swansea, UK, Catherine de Vigan, Paris, France, Elisa Calzolari, Ferrara, Italy, Berenice Doray, Strasbourg, France,MiriamGatt,Malta,GemaAriceta,BasqueCountry, Spain, Fabrizio Bianchi, Tuscany, Italy, Maria Soares, South Portugal, Portugal, Yves Gillerot, Hainaut, Belgium.

목적 : 선천성 수신증 환아에서 방광요관역류(VUR)가 어떠한 관련이 있는지 또한 요로감염 발생 여부와 어떠한 연관이 있는지 정보가 부족하다. 이에 연구자들은 VCUG를 시행 받은 선천성 수신증 환아를 대상으로, 수신증과 VUR 간의 연관성 및 요로감염 발생 여부에 대하여 분석을 하여 환자관리에 도움이 되는 정보를 마...

Ureteral walls were obtained from twelve autopsies without urological diseases and from surgical material of twelve patients operated for congenital hydronephrosis. The specimens were submitted to computer-assisted analysis of 3-D muscular architecture at the ureteropelvic junction (UPJ). Serial histologic sections in parallel with the wall were prepared. A geometric model was introduced to simplify the muscular layer, replacing bundles with vectors of corresponding size and direction. The vector distribution visualized that normally, the ureteral muscles change their arrangement with age, from a circular pattern in neonates to an oblique mesh in adults. In addition, longitudinal muscles emerged at the age of two years in the subepithelial layer. In patients with congenital hydronephrosis, not only were such growth-related changes ambiguous or lacking, but there also were various abnormalities; segmental muscular hypoplasia, disarrangement of bundles or lack of longitudinal fibers. These were considered to closely correlate with the urinary obstruction in patients with this disease.