OBJECTIVE: To explore the clinical features and genomic abnorm ality of a fetus enlarged multicystic dysplastic kidneys with oligohydramnios caused by NPHP3 gene mutation. METHODS: The fetuse was found to have multicystic dysplastic kidneys with oligohydramnios upon ultrasonography during the second trimester. Following induced abortion, fetal tissue was collected for the extraction of DNA, chromosomal microarray analysis (CMA) and whole exome sequencing (WES). Sanger sequencing was used to verify the suspected variants in the family. RESULTS: Antenatal ultrasound examination at 19 weeks showed "polycystic" kidneys with Oligohydramnios. Delivery was by induced labour because of the critically low amniotic fluid volume. Testing of CMA was normal. WES showed a compound heterozygous mutation of c.1817G>A, p.W606X; c.432dupA, p.E145Rfs*18 mutations are novel mutations in this study. CONCLUSION The research may further expand the NPHP3 gene mutation spectrum. Enlarged multicystic dysplastic kidneys with oligohydramnios caused by NPHP3 gene mutation at least include one or two splice site mutation, frameshift mutation or nonsense mutation foetal poor prognosis.
Amniotic Fluid ; Female ; Humans ; Kidney Diseases, Cystic ; Multicystic Dysplastic Kidney/genetics* ; Mutation ; Oligohydramnios/genetics* ; Polycystic Kidney Diseases ; Pregnancy ; Ultrasonography, Prenatal

Herlyn-Werner-Wunderlich (HWW) syndrome is a rare congenital malformation syndrome that is characterized by a triad of uterine didelphys, blind hemivagina, and ipsilateral renal agenesis. There is a wide variety of phenotypic presentation which is recognized as a spectrum of disease rather than a separate entity. The exact incidence and pathogenesis of HWW syndrome are yet to be investigated. While this disease typically involves adolescent girls who present with abdominal pain or a pelvic mass that is secondary to hematocolpos, nowadays, a majority of potential patients with HWW are being prenatally screened for renal anomalies. Therefore, it is recommended to search for uterovaginal anomalies whenever a multicystic dysplastic kidney or the absence of a kidney is noted in a newborn female, and the role of pediatric nephrologists has become ever more important for early recognition of the disease.
Abdominal Pain ; Adolescent ; Female ; Hematocolpos ; Humans ; Incidence ; Infant, Newborn ; Kidney ; Multicystic Dysplastic Kidney

OBJECTIVETo explore the genetic etiology of fetuses with multicystic dysplastic kidney (MCDK) by chromosome microarray analysis (CMA).

METHODSSeventy-two fetuses with MCDK were analyzed with conventional cytogenetic technique, among which 30 fetuses with a normal karyotype were subjected to CMA analysis with Affymetrix CytoScan HD arrays by following the manufacturer's protocol. The data was analyzed with ChAS software.

RESULTSConventional cytogenetic technique has revealed three fetuses (4.2%) with identifiable chromosomal aberrations. CMA analysis has detected pathogenic CNVs in 5 fetuses (16.7%), which included two well-known microdeletion or microduplication syndromes, i.e., 17q12 microdeletion syndrome and Williams-Beuren syndrome (WBS) and three submicroscopic imbalances at 4q35.2, 22q13.33, and 1p33. PEX26, FKBP6, TUBGCP6, ALG12, and CYP4A11 are likely the causative genes.

CONCLUSIONCMA can identify the submicroscopic imbalances unidentifiable by conventional cytogenetic technique, and therefore has a significant role in prenatal diagnosis and genetic counseling. The detection rate of pathogenic CNVs in fetuses with MCDK was 16.7% by CMA. 17q12 microdeletion syndrome and WBS are associated with MCDK. Mutations of PEX26, FKBP6, TUBGCP6, ALG12, and CYP4A11 genes may be the causes for MCDK.

Adult ; Chromosomes ; genetics ; Female ; Fetus ; Humans ; Male ; Microarray Analysis ; methods ; Multicystic Dysplastic Kidney ; genetics ; Pregnancy ; Prenatal Diagnosis ; methods ; Young Adult

PURPOSE: Congenital anomalies of the kidneys and urinary tract (CAKUT) are the most common anomalies identified in newborns. This study aims to demonstrate the prevalence of CAKUT including hydronephrosis diagnosed by antenatal and postnatal ultrasound over a five-year period. METHODS: The records of births between May 1st, 2009 and April 30th, 2014 at our hospital were collected. The number of infants who underwent renal ultrasound after birth for the detection of CAKUT was counted. The incidence of each type of CAKUT such as hydronephrosis, size abnormality, horseshoe kidney, and Multicystic dysplastic kidney (MCDK) was retrospectively evaluated for antenatal screening and postnatal follow-up examination. RESULTS: During the study period, 33,276 infants were born and 521 neonates underwent postnatal renal ultrasound. 183 cases of CAKUT were detected prenatally and 140 postnatally using ultrasonographic examinations at the following time: (i) 3-7 days postnatally in 123 newborns (87.9%), (ii) during 1-3 months in 11 newborns (7.9%), and (iii) later than 3 months in 6 newborns (4.3%). Among diagnosed CAKUT, hydronephrosis was the most common anomaly with 113 newborns diagnosed prenatally and 46 postnatally. Duplex kidney was the second most common anomaly followed by horseshoe kidney, simple cysts in the kidney and so on. CONCLUSION: The detection of CAKUT is an important part of the prenatal ultrasound. This study analyzed the prevalence of CAKUT detected on prenatal screening and compared the results to those detected postnatally. Prenatal ultrasound screening fulfills the needs of postnatal examinations and therefore, both antenatal and postnatal sonographic investigations are of vital importance for diagnosis of renal and urinary tract anomalies.
Diagnosis ; Follow-Up Studies ; Humans ; Hydronephrosis ; Incidence* ; Infant ; Infant, Newborn ; Kidney* ; Mass Screening ; Multicystic Dysplastic Kidney ; Parturition ; Prenatal Diagnosis ; Prevalence ; Retrospective Studies ; Ultrasonography* ; Urinary Tract*

Phelan-McDermid syndrome is a rare genetic disorder caused by the terminal or interstitial deletion of the chromosome 22q13.3. Patients with this syndrome usually have global developmental delay, hypotonia, and speech delays. Several putative genes such as the SHANK3, RAB, RABL2B, and IB2 are responsible for the neurological features. This study describes the clinical features and outcomes of Korean patients with Phelan-McDermid syndrome. Two patients showing global developmental delay, hypotonia, and speech delay were diagnosed with Phelan-McDermid syndrome via chromosome analysis, fluorescent in situ hybridization, and multiplex ligation-dependent probe amplification analysis. Brain magnetic resonance imaging of Patients 1 and 2 showed delayed myelination and severe communicating hydrocephalus, respectively. Electroencephalography in patient 2 showed high amplitude spike discharges from the left frontotemporoparietal area, but neither patient developed seizures. Kidney ultrasonography of both the patients revealed multicystic kidney disease and pelviectasis, respectively. Patient 2 experienced recurrent respiratory infections, and chest computed tomography findings demonstrated laryngotracheomalacia and bronchial narrowing. He subsequently died because of heart failure after a ventriculoperitoneal shunt operation at 5 months of age. Patient 1, who is currently 20 months old, has been undergoing rehabilitation therapy. However, global developmental delay was noted, as determines using the Korean Infant and Child Development test, the Denver developmental test, and the Bayley developmental test. This report describes the clinical features, outcomes, and molecular genetic characteristics of two Korean patients with Phelan-McDermid syndrome.
Brain ; Child ; Child Development ; Electroencephalography ; Heart Failure ; Humans ; Hydrocephalus ; In Situ Hybridization, Fluorescence ; Infant ; Kidney ; Language Development Disorders ; Magnetic Resonance Imaging ; Molecular Biology ; Multicystic Dysplastic Kidney ; Multiplex Polymerase Chain Reaction ; Muscle Hypotonia ; Myelin Sheath ; Rehabilitation ; Respiratory Tract Infections ; Seizures ; Thorax ; Ultrasonography ; Ventriculoperitoneal Shunt

PURPOSE: Sacral cutaneous lesions, such as dimples and hairy patches, may be associated with occult spinal dysraphism and urogenital abnormalities. This study aim to delineate high risk infants who need early screening for intraspinal and urogenital abnormalities by identifying the association between cutaneous lesions and combined abnormalities. METHODS: Sacral ultrasonography was performed in 777 infants with sacral cutaneous lesions from January 2010 to July 2014. Of these, 317 infants underwent abdominal ultrasonography for urogenital abnormalities. We reviewed the patient's medical records and radiographic findings retrospectively. RESULTS: Of the 777 infants, abnormal intraspinal findings such as tethered cord or meningocele were reported in 26 (3.4%). Sixteen of these 26 patients with abnormal findings underwent follow-up ultrasonography or MRI; 4 infants were diagnosed with lipomeningomyelocele through MRI, and 1 infant underwent a neurosurgical procedure. Among the 317 infants who underwent abdominal ultrasonography, 78 infants (24.6%) had congenital hydronephrosis and 8 infants (2.5%) had other urogenital abnormalities including duplication of kidney, vesicoureteral reflux, horseshoe kidney, renal cyst, or multicystic dysplastic kidney. Urogenital abnormalities were more common in patients with sacral dimples associated with hair or deviated gluteal folds than in those with simple dimples (OR 3.24 and 8.88; P=0.007 and P=0.001, respectively). CONCLUSION: Midline sacral cutaneous lesions may be associated with occult spinal dysraphism and urogenital abnormalities. To detect intraspinal lesions, ultrasonography is recommended for infants with sacral cutaneous lesions. Likewise, infants with sacral dimples associated with either hair or deviated gluteal folds, should be evaluated via abdominal ultrasonography to assess for combined urogenital abnormalities.
Follow-Up Studies ; Hair ; Humans ; Hydronephrosis ; Infant* ; Kidney ; Magnetic Resonance Imaging ; Mass Screening ; Medical Records ; Meningocele ; Multicystic Dysplastic Kidney ; Neural Tube Defects ; Neurosurgical Procedures ; Retrospective Studies ; Ultrasonography ; Urogenital Abnormalities* ; Vesico-Ureteral Reflux

No abstract available.
Child ; Humans ; Hydronephrosis/*congenital/diagnosis/etiology ; Male ; Multicystic Dysplastic Kidney/diagnosis/*etiology ; Polyps/*complications/diagnosis/surgery ; Ureteral Diseases/complications/diagnosis/surgery ; Ureteral Obstruction/diagnosis/*etiology

PURPOSE: To assess the long-term follow-up results of laparoscopic pyeloplasty for ureteropelvic junction obstruction. MATERIALS AND METHODS: Sixty-five patients (mean age, 43.8 years) who underwent standard laparoscopic pyeloplasty by transperitoneal approaches were enrolled in this study. The chief complaint was flank pain (n=57 patients); the remaining cases were detected incidentally. Twenty-three patients had undergone previous abdominal surgeries, including open pyeloplasty and endopyelotomy. Mean stricture length was 1.06 cm. Grade 3/4 and 4/4 hydronephrosis was detected in 36 and 14 patients, respectively. An obstructive pattern was present on the renal scan in 53 patients (81.5%). RESULTS: Fifty-seven patients were treated with dismembered Anderson-Hynes pyeloplasty and eight patients with Fenger pyeloplasty. During the operation, crossing vessels were found in 27 patients (41.5%). Mean operating time was 159.42 minutes. Although there were no cases of open conversion, two patients with colon and spleen injuries were detected postoperatively. The mean starting time of postoperative ambulation and diet was 1.54 days and 1.86 days, respectively. Mean hospital stay was 8.09 days. Mean follow-up period was 36.5 months. Follow-up intravenous pyelography and renal scan showed improvements in 59 patients, and the radiologic success rate was 90.8%. Eight patients showed failure on radiologic or symptomatic evaluation, and the overall success rate was 87.7%. In the comparative analysis between the success and failure groups, drained amount was the only risk factor related to failure (554.41 mL. vs. 947.70 mL, p=0.024). CONCLUSIONS: Long-term follow-up results support laparoscopic pyeloplasty as the standard treatment for ureteropelvic junction obstruction. Drained amount is a risk factor for failure of the operation.
Adolescent ; Adult ; Aged ; Child ; Female ; Follow-Up Studies ; Humans ; Hydronephrosis/*congenital/pathology/surgery ; Kidney Pelvis/surgery ; Laparoscopy/adverse effects/methods ; Male ; Middle Aged ; Multicystic Dysplastic Kidney/pathology/*surgery ; Risk Factors ; Severity of Illness Index ; Treatment Failure ; Treatment Outcome ; Ureteral Obstruction/pathology/*surgery ; Young Adult

OBJECTIVETo compare clinical outcomes of three dimensional (3D) and traditional two dimentional (2D) laparoscopic pyeloplasty for ureteropelvic junction obstruction (UPJO).

METHODSClinical data on 31 patients who underwent retroperitoneoscopic pyeloplasty for UPJO in Peking Union Medical Hospital from January 2013 to March 2014 were retrospectively analyzed. There were 16 male and 15 female patients, and the age ranged from 21 to 42 years, mean (30 ± 6) years. The lesions of 20 cases were located on the left side and 11 cases on the right side. All cases were diagnosed as UPJO by B ultrasound and computed tomography urography (CTU). According to 3D or 2D laparoscopy, these patients were divided into two groups. The 3D laparoscopy group included 16 cases, who received 3D retroperitoneoscopic pyeloplasty. The 2D laparoscopy group included 15 cases, who received traditional 2D retroperitoneoscopic pyeloplasty. Demographic data (gender, age, laterality, body mass index), perioperative indexes and clinical outcomes (operative time, estimated blood loss , postoperative hospital stay, total hospitalization charge) were collected and compared between two groups.Numerical demographic and perioperative data were analyzed by using Student's t-test. Categorical data were compared using Pearson's Chi-square test.

RESULTSAll operations were completed successfully without open convertion.In the 3D laparoscopy group operative time was significantly shorter than 2D laparoscopy group ((106 ± 16) minutes vs. (124 ± 24) minutes, t = 5.993, P = 0.021) . There were no significant difference between two groups on the estimated blood loss ((54 ± 14) ml vs. (57 ± 16) ml, t = 0.285, P = 0.598), postoperative hospital stay ((7.3 ± 0.7) days vs. (7.5 ± 0.6) days, t = 1.415, P = 0.244), incidence of postoperative complications (0/16 vs. 1/15, χ(2) = 1.102, P = 0.484) and total hospitalization charge ((25 687 ± 3 032) RMB vs. (25 426 ± 2 626) RMB, t = 0.065, P = 0.800) . All patients were followed up from 3 to 12 months (mean 6 months).Ureteropelvic junction stricture recurred in 2 cases respectively from 3D laparoscopic group and traditional laparoscopic group. Both were cured.

CONCLUSIONS3D laparoscopic pyeloplasty is safe and feasible. Compared with the traditional 2D laparoscopic technology, 3D laparoscopy technology reduces the operation difficulty and shortens the operative time.

Adult ; Chi-Square Distribution ; Female ; Humans ; Hydronephrosis ; congenital ; surgery ; Imaging, Three-Dimensional ; Kidney Pelvis ; Laparoscopy ; methods ; Length of Stay ; Male ; Multicystic Dysplastic Kidney ; surgery ; Operative Time ; Postoperative Complications ; Recurrence ; Retrospective Studies ; Treatment Outcome ; Ureteral Obstruction ; surgery ; Urologic Surgical Procedures ; methods ; Young Adult

OBJECTIVETo investigate the diagnosis, treatment and surgical outcomes of ureteropelvic junction obstruction (UPJO) caused by renal crossing vessels.

METHODSThe case records of 24 patients discharged from Peking University Third Hospital between June 2001 and September 2011 with the diagnosis of UPJO caused by renal crossing vessels were reviewed .Of the 24 patients, 17 were male and 7 were female patients. The mean age was 28 years (range, 2-63 years). The mean disease duration was 22.3 months (range, 7 days to 180 months). Of which, 4 patients underwent open surgery, and the other 20 patients were treated with laparoscopic surgery. Surgical approach was decided by operative conditions: adhesion release technique, dismembered pyeloplasty or Y-V anastomosisor, with or without cut off the crossing vessels. The kind of crossing vessels was recorded, and the effect of surgery was evaluated by follow-up.

RESULTSFifteen cases were caused by oppressed renal crossing artery, 8 cases by renal crossing vein, and 1 case by 2 renal crossing arteries and 1 renal crossing vein. Among them, 11 cases were followed up successfully. Average follow-up time was 48.2 months (range, 13-120 months). Eight cases (8/11) were relieved, and 1 case (1/11) had no obvious improvement, another 2 cases (2/11) were aggravating. Among those 6 cases underwent adhesion release technique, 3 cases were relieved, 1 case had no obvious improvement, and 2 cases were aggravating. Five cases who underwent dismembered pyeloplasty was relieved significantly.

CONCLUSIONSRenal crossing artery is one of the main causes of UPJO, the crossing artery should be retained as far as possible. Crossing vessel oppression is not the only pathological cause of UPJO, so the treatment of UPJ constriction is also very important. Dismembered pyeloplasty seems to be the most efficacies treatment procedure for UPJO caused by repressed vessels, and the remission rate of adhesion release technique seems limited.

Adolescent ; Adult ; Arteries ; surgery ; Child ; Child, Preschool ; Female ; Humans ; Hydronephrosis ; congenital ; etiology ; surgery ; Kidney ; blood supply ; Kidney Pelvis ; blood supply ; Laparoscopy ; methods ; Male ; Middle Aged ; Multicystic Dysplastic Kidney ; etiology ; surgery ; Renal Artery ; abnormalities ; Treatment Outcome ; Ureteral Obstruction ; etiology ; surgery ; Young Adult