Anterior urethral valve is a rare congenital anomaly that can cause obstructive uropathy. Herein, we report a case of an anterior urethral valve that led to the development of febrile urinary tract infection in a neonate.
Congenital Abnormalities ; Diverticulum ; Humans ; Infant, Newborn ; Urethra ; Urinary Tract ; Urinary Tract Infections

Humans ; Infant, Newborn ; Male ; Marfan Syndrome ; complications ; Urinary Tract ; abnormalities

PURPOSE: Persistent cloaca is a rare multiple anomalous condition which involves the gastrointestinal, neurological and urogenital systems. We evaluated the clinical characteristics and urogenital anomalies of patients with persistent cloaca, and we investigated the factors that must be considered from a urological perspective. MATERIALS AND METHODS: We retrospectively reviewed the medical records of 11 patients who were diagnosed with persistent cloaca at our institution during the last 7 years. RESULTS: Nine of the 11 patients who were followed up at the urology clinic were subjected to this study. Nonspecific abnormalities, such as antenatal hydronephrosis, were noted in 5 of 9 patients. The chief complaints upon visits to the urologic clinic were recurrent urinary tract infections in 3, preoperative evaluation before neurosurgery in 3, urinary incontinence in 1, urinary retention in 1 and an elevated creatinine level in 1. The urological anomalies included 2 cases of renal agenesis and 1 horseshoe kidney. Vesicoureteral reflux was noted in 6 patients, and 4 of these patients underwent antireflux surgery. Videourodynamic study was performed in 8 patients and all of them were diagnosed with neurogenic bladder. Currently, 5 children are on intermittent catheterization, 2 have undergone vesicostomy and 2 void spontaneously. CONCLUSIONS: Most patients with persistent cloaca had urological anomalies of the upper urinary tract and neurogenic bladder. Therefore, a multidisciplinary approach for diagnosis and treatment from various departments, including the urology, pediatric surgery, neurosurgery departments is mandatory.
Catheterization ; Catheters ; Child ; Cloaca ; Congenital Abnormalities ; Creatinine ; Cystostomy ; Humans ; Hydronephrosis ; Kidney ; Kidney Diseases ; Medical Records ; Neurosurgery ; Retrospective Studies ; Urinary Bladder, Neurogenic ; Urinary Incontinence ; Urinary Retention ; Urinary Tract ; Urinary Tract Infections ; Urogenital Abnormalities ; Urogenital System ; Urology ; Vesico-Ureteral Reflux

The cause of radiolucent filling defects in the upper urinary tract are malignant tumor, radiolucent stones, blood clots, air bubbles, congenital deformities of renal parenchyme, and various specific and non-specific infection and their sequence. So the differential diagnosis between malignancy and radiolucent stones is very important, and the exact and fast diagnosis of radiolucent stones is useful in excluding the possibility of malignancy. 27 cases with radiolucent stones were evaluated retrospectively for exact diagnosis and appropriate treatment method. Intravenous urography was done in all cases, and retrograde pyelography, ultrasonography, computed tomography and/or ureterorenoscopy were performed for diagnosis, if needed. Size of stones were measured below 10mm by transverse length in 19 cases (70.4%) with a range of 3 to30mm. The locations of stones were pelvocalyceal system in 8 cases (29.6%) and ureter in 19 cases (70.4%). Among the diagnostic methods, computed tomography was used most frequently. ESWL with retrograde pyelography was most frequent used method of treatment, also simple hydration to small stone was effective.
Congenital Abnormalities ; Diagnosis ; Diagnosis, Differential ; Retrospective Studies ; Ultrasonography ; Ureter ; Urinary Tract ; Urography

PURPOSE: Urinary red blood cell morphology has been used to localize the site of hematuria in the urinary tract. But the pathologic mechanism for dysmorphic urinary red blood cells remains undefned. Our study was undertaken to investigate the mechanism of dysmorphic urinary RBCs in glomerular hematuria. We have attempted to reproduce in vitro the changes that occur in red cell morphology during passage through the renal tubule and to elucidate the role of urinary composition in determining morphology. METHODS: We examined a number of urinary samples under bright f eld microscopes with Wright's stain. 1) One drop of fresh venous blood was added to 1 ml experimental fluid, allowed to stand for 5 min and then assessed. The experimental fluids used were NaCl solutions in which the sodium concentration varied among 40 and 400mmol/L and similar saline solutions to which KCl(10, 50mmol/L), CaCl2(0.5, 2mmol/L), Urea(100, 400mmol/L) and pH(4, 8) had been added. We examined the RBC morphology in these solution. 2) In order to simulate passage of RBCs through the renal tubule, RBCs were initially suspended for 5 min in hypertonic solutions(NaCl 200mmol/L+Urea 70mmol/L+Urea 1000mmol/L). The RBCs were separated by centrifuging at 500rpm for 2 min in conical tubes, the supernatant was discarded and the RBCs washed and resuspended in a hypotonic solution(NaCl 60mmol/L) for 5 min. We added two urines(610mOsm/Kg H2O) to these solutions and then examined the RBCs morphology. RESULTS: The results were as follows; 1) Anisocytosis and hypochromia were found in NaCl 60mmol/L and 75mmol/L solutions and crenated RBC was found in Nacl 400mmol/L solution. But addition of potassium, calcium or urea and variation of the pH had no effect on red cell morphology. 2) when exposed to hypotonic solution, which simulated tubular condition(NaCl 60mmol/L), the RBCs became anisocytotic and hypochromic. These two features were particularly marked if cells were transferred to concentrated urine(610mOsm/kg H2O). CONCLUSIONS: It is evident that a hypotonic tubular condition is hostile for red cells and may be primarily responsible for hy0pochromia and anisocytosis of RBCs. Although two characteristic features of dysmorphism can be reproduced in vitro, a the bizarre deformity cannot be observed. Therefore passage of red cells through the hypotonic tubular segment alone does not account for the typical deformity. Because dilute urine specimens give a false impression by selective lysis of dysmorphic cells, concentrated urine is suitable for analysis of red cell morphology.
Calcium ; Congenital Abnormalities ; Erythrocytes ; Hematuria* ; Hydrogen-Ion Concentration ; Potassium ; Sodium ; Urea ; Urinary Tract

A nephropathy following urinary tract infection is usually referred to as renal scarring. The main radiologic features are an overall reduction in the size of the kidney, with coarse scar, deformity of calyces and indentation of the surface. If adequately treated, the progressive renal scarring by urinary tract infection could be prevented. Therefore, the early radiologic detection of renal damage following urinary tact infection or vesicoureteral reflux is great importance for the evaluation of the pathogenesis of renal scarring and for the planning of the therapy. To evaluate the renal damage, we must have the normal data of the kidneys. Many reports discussed the renal size in normal children, but there are no reports in the Korean children. We estimate the renal length, width, several focal parenchymal thicknesses for renal size evaluation and segmental lumbar vertebral length at the intravenous pyelography in the normal Korean children. And the linear equations are obtained by the regression analysis between the various renal parameters and segmental vertebral length. Thereafter we make out the nomogram by the obtained equations. The renal length and width are highly correlated to the segmental lumbar vertebral length than various renal parenchymal thicknesses. These result suggest that the renal length and width are reliable parameters for normal renal size evaluation in growing kidney. And then the obtained equations and normograms might be useful in the diagnosis of parenchymal loss in early scarring and follow-up.
Child* ; Cicatrix ; Congenital Abnormalities ; Diagnosis ; Humans ; Kidney ; Nomograms ; Urinary Tract Infections ; Urography ; Vesico-Ureteral Reflux

Supernumerary nipple is a developmental anomaly that occurs along the course of the embryological milk lines. The prevalence appears to be higher in women and a wide range of congenital and hereditary anomalies have been described in association with supernumerary nipple, including cardiovascular, gastrointestinal, skeletal and neurologic anomalies, and especially renal and urinary tract anomalies. However, there has been no report of supernumerary nipple with renal anomalies in the Korean dermatologic literature. Herein, we report on an interesting case of a supernumerary nipple with unilateral renal agenesis in a 15-year old man.
Congenital Abnormalities ; Female ; Humans ; Kidney ; Kidney Diseases ; Milk ; Nipples ; Prevalence ; Urinary Tract

Crossed renal ectopia with fusion is an unusual congenital anomaly, probably produced by abnormal development of the ureteral bud. The deformity itself produces no symptoms but it presents possible urinary tract infection, obstuction and stone formation, and other anomaly in body. Herein we report two cases of crossed fused renal ectopia complained of abdominal mass in 28 year old female and abdominal pain after trauma in 14 year-old boy.
Abdominal Pain ; Adolescent ; Adult ; Congenital Abnormalities ; Female ; Humans ; Male ; Ureter ; Urinary Tract Infections

OBJECTIVE: To explore the genetic etiology of fetuses with congenital anomalies of the kidney and urinary tract (CAKUT) by whole exome sequencing (WES). METHODS: WES was performed on DNA extracted from cord blood samples of 26 fetuses with unexplained CAKUT with/without other structural anomalies. In the first 19 cases, sequencing was performed on fetal DNA only, and the turnaround time was 11-12 weeks. For the remaining 7 cases, the fetus and its parents were sequenced simultaneously, and the turnaround time was 8-9 weeks. RESULTS: Of the 26 cases, pathogenic variants were identified in 4 (15.4%) cases, which respectively involved UMOD, NEK8, HNF1B, and BBS2 genes, and likely pathogenic variants were identified in 2 (7.7%) cases, which respectively involved HSPD1 and GRIN2B genes. Two of the 4 cases had other anomalies in addition to CAKUT. Thus, the detection rate was only 2/19 (10.5%) for isolated CAKUT and 4/7 (57.1%) for CAKUT with additional anomalies. CONCLUSION The application of WES as a prenatal diagnostic approach for CAKUT fetuses with or without other anomalies allowed early and accurate diagnosis and improved their clinical management.
Exome ; Female ; Fetus ; Humans ; Kidney ; pathology ; Pregnancy ; Urinary Tract ; pathology ; Urogenital Abnormalities ; genetics ; Whole Exome Sequencing

OBJECTIVETo investigate the proportion of children with congenital abnormalities of the kidney and urinary tract (CAKUT) among those who received screening, analyze the rate, diagnosis and treatment of each abnormality, and evaluate the value of ultrasonography in the CAKUT diagnosis.

METHODTotally 489 of 26 989 children who received screening for urinary tract abnormalities were found to have CAKUT and were followed up by telephone interviews and were asked whether they had defined diagnosis of CAKUT, had clinical symptoms and received treatment. Children who had been operated on were also asked about the operation time, surgical procedure, postoperative diagnosis, and outcome. Children who had never been reviewed or still had no diagnosis were arranged to Beijing Children's Hospital for ultrasound follow-up. The final data were summed up for a retrospective analysis.

RESULT1) The proportion of children with CAKUT was 1.67%. Most children with CAKUT had no clinical manifestations. 2) Of the 489 cases, 320 were followed up, and 169 were lost. Of the cases who were followed up, 16 out of 295 cases who had clear diagnosis showed inconsistent results in ultrasound screening. 3) Hydronephrosis was identified in 137 cases (0.78%), among whom 111 were males and 26 were females, in 98 cases the hydronephrosis was on the left, in 28 on the right and in 11 were bilateral. Ureterovesical junction obstruction occurred in 33 cases (0.19%), 25 males and 8 females, in 22 cases on the left, in 10 on right and bilateral in 1 case. Renal dysplasia was shown in 30 cases (0.17%), 22 males and 8 females; renal cysts in 26 cases (0.15%); duplex kidney in 24 cases (0.14%); solitary kidney in 22 cases (0.12%); ureterocele in 16 cases (0.09%); fused kidney in 10 cases (0.06%); renal hypoplasia in 9 cases (0.05%); ectopic kidney in 5 cases (0.03%); polycystic kidney in 3 cases (0.02%). Primary vesicoureteral reflux, posterior urethral valves, renal malrotation, branch renal pelvis, extrarenal pelvis in 1 case each. 4) Totally 114 of the 295 cases (38.6%) who were followed up for CAKUT in screening test required surgical treatment. Only one case of ureteropelvic junction obstruction (UPJO) failed in surgery.

CONCLUSIONThe proportion of children with CAKUT was high. CAKUT is difficult to detect since there is no significant clinical manifestations in early ages. More than one third of patients with CAKUT needed surgical treatment. Ultrasonography showed obvious advantages in detecting children's CAKUT, proven to be the most preferred method of screening, thus could be recommended as a routine of children's physical examination.

Adolescent ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Kidney ; abnormalities ; Male ; Retrospective Studies ; Ultrasonography ; Urinary Tract ; abnormalities ; Urogenital Abnormalities ; diagnostic imaging ; epidemiology