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

STUDY DESIGN: Retrospective study. PURPOSE: To outline the etiology, complications and management difficulties encountered in the management of neglected thoracolumbar spine injuries. OVERVIEW OF LITERATURE: The English literature describes overlooked diagnosis as the most common cause of neglected spine injuries. However, the reasons differ in developing or under-developed nations. Moreover, there is scarcity of literature about the neglected spinal injuries. METHODS: Patients presenting with thoracolumbar traumatic injuries who had not received any form of treatment for more than three weeks were included in the study. The demographic details, operative procedure performed and complications encountered, along with American Spinal Injury Association grade and spinal cord independence measure score recorded on the history sheets were noted. The data were analyzed. RESULTS: Forty patients were included in the study. Inadequate treatment at the first contact hospital (45%) followed by late presentation (38%) and missed injury (17%) were the major etiological factors for the neglected traumatic injuries in the thoracolumbar spine. The most common complications seen in the management of these cases were pressure sores (58%), back pain (57%), urinary tract infection (42%) and residual kyphotic deformity (42%). CONCLUSIONS: Management of neglected thoracolumbar injuries is challenging. The delay in presentation should not prevent spine surgeon in proceeding with operative intervention as good results can be expected.
Back Pain ; Congenital Abnormalities ; Developing Countries ; Diagnosis ; Humans ; Neglected Diseases ; Pressure Ulcer ; Retrospective Studies ; Spinal Cord ; Spinal Cord Injuries ; Spinal Fractures ; Spinal Injuries ; Spine* ; Surgical Procedures, Operative ; Urinary Tract Infections

The development of the kidneys and other organs of the urinary tract follows the natural rule of gene-environment-lifestyle interaction. Both intrinsic and extrinsic factors may be associated with the etiology of various kinds of urinary malformations, but the environmental factor is an extrinsic factor. Related literatures were reviewed in this paper, which focuses on the association of congenital urinary malformations with possible environmental factors. It is concluded that urinary malformation is associated with low birth weight, maternal disease, placental insufficiency, maternal drug exposure, and maternal exposure to environmental pesticides. Living environment and socioeconomic factors may also influence the incidence of urinary malformation.
Female ; Fetus ; drug effects ; Gene-Environment Interaction ; Humans ; Infant, Low Birth Weight ; Pesticides ; toxicity ; Placental Insufficiency ; Pregnancy ; Socioeconomic Factors ; Urinary Tract ; abnormalities

PURPOSE: Pediatric urolithiasis is uncommon in children but is a cause of significant morbidity and damage to the kidney. Although much information on adult urolithiasis is available in the literature, large studies on the pediatric population are still scarce. In this report, we review our experience with pediatric urolithiasis over 22 years at a tertiary referral center. METHOD: We retrospectively reviewed the records of children with newly diagnosed urolithiasis between January 1991 and May 2013. We assessed the age, sex, family history, initial symptoms, location of stones, underlying cause, stone analysis, treatment, and recurrence among the patients. RESULTS: In total, 137 patients (96 male, 41 female) were assessed. The age range was 0-17 years (mean age, 6.0 years). Forty-three (31%) children were aged <1 year, and 37% (16/43) had a history of intensive care unit (ICU) admission. Thirteen patients (9.5%) had a family history of stones. The most common symptoms at presentation among the patients were gross hematuria (56/137, 41%) and flank or abdominal pain (46/137, 34%). The stones were located in the kidney (85/137, 62%), ureter (29/137, 21%), bladder (2/137, 1.4%), and multiple locations (20/137, 15 %). Congenital abnormalities of the genitourinary (G-U) tract, with or without metabolic abnormality, or urinary tract infection (UTI) was detected in 26 children (19%). Ninety-one patients (66%) underwent metabolic examination, and 38% of these patients exhibited an abnormality. UTI, with or without abnormalities of the G-U tract, or metabolic abnormality was detected in 26 children (19%). Of the 35 stones analyzed, the majority were calcium stones (20/35, 57%), followed by infected stones (5/35, 14%), uric acid stones (4/35, 11%), carbonate apatite stones (3/35, 7%), cystine stones (2/35, 6%), and phosphate stones (1/35, 3%). Five patients (4%) required open procedures, with or without non-open procedures, whereas 77 patients (56%) were managed conservatively; the remaining 55 patients (40%) received some other form of intervention. Eighteen patients (13%) had stone recurrence during the follow-up period. CONCLUSIONS: Pediatric urolithiasis is commonly associated with abnormalities of the G-U tract and/or metabolic disorders and/or UTI. Half of the patients will pass their stones spontaneously, and all the techniques of minimally invasive surgery are applicable in the treatment of children with stones. As the recurrence rates are high among this population, long-term follow-up is recommended and the complete clearance of stones is important.
Abdominal Pain ; Adult ; Apatites ; Calcium ; Carbon ; Child ; Congenital Abnormalities ; Cystine ; Follow-Up Studies ; Hematuria ; Humans ; Intensive Care Units ; Kidney ; Male ; Recurrence ; Referral and Consultation ; Retrospective Studies ; Ureter ; Uric Acid ; Urinary Bladder ; Urinary Tract Infections ; Urolithiasis*

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

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

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

PURPOSE: The clinical characteristics and associated anomalies in children with solitary kidney (SK) were analyzed retrospectively. METHODS: Total 38 children diagnosed to have SK at our hospital between December 1989 and December 2009 were recruited, and the clinical records including imaging studies were retrospectively reviewed. SK was defined as unilateral renal agenesis by imaging studies only, and patients with regression of unilateral dysplastic kidney were excluded. RESULTS: Among total 38 patients, 12 were male. The median age at the diagnosis of SK was 6.5 months (at birth-13 years). SK was detected by prenatal ultrasonography in 14 patients and during work-up for renal or urinary tract diseases in 13 (including urinary tract infection in 7). In 10 patients, SK was detected incidentally. Anomalies in the SK were noted in 17 patients including vesicoureteral reflux in 11. Other anomalies in the genitourinary tract were present in 16 patients, and multi-organ-involving syndromes or chromosomal anomalies were detected in 9. The mean duration of follow-up was 9 years (9 months-20 years). Two patients developed chronic renal failure during follow-up, and the median serum creatinine concentration of the remaining 36 at their last follow-up was 0.6 mg/dL. CONCLUSION: SK may be isolated and clinically asymptomatic; it is frequently accompanied by other anomalies in genitourinary tract and other organs, some of which can induce progressive renal dysfunction. Early recognition of associated anomalies with SK and regular follow-up is recommended to reduce long-term risk.
Child ; Congenital Abnormalities ; Creatinine ; Follow-Up Studies ; Humans ; Kidney ; Kidney Diseases ; Kidney Failure, Chronic ; Male ; Retrospective Studies ; Ultrasonography, Prenatal ; Urinary Tract Infections ; Urogenital Abnormalities ; Urologic Diseases ; Vesico-Ureteral Reflux

A case of a 52-year-old man with retroperitoneal fibrosis and a horseshoe kidney is presented. Horseshoe kidney is one of the most common renal anomalies and complicated with urinary tract infection, hydronephrosis, calculi, tumor of the renal pelvis, and other multiple congenital abnormalities. Idiopathic retroperitoneal fibrosis is a rare disease characterized by the presence of a retroperitoneal tissue, consisting of chronic inflammation and marked fibrosis, which often entraps ureters or other abdominal organs. The correlation between horseshoe kidney and retroperitoneal fibrosis has not been described. We report a rare case of idiopathic retroperitoneal fibrosis with horseshoe kidney disease demonstrating good response to steroid therapy.
Calculi ; Congenital Abnormalities ; Fibrosis ; Humans ; Hydronephrosis ; Inflammation ; Kidney ; Kidney Diseases ; Kidney Pelvis ; Middle Aged ; Rare Diseases ; Retroperitoneal Fibrosis ; Steroids ; Ureter ; Urinary Tract Infections

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