Crossed Renal Ectopia Without Fusion: A Multidetector Computed Tomography Study.

Background: Congenital positional, rotational and fusion anomalies of the kidney are frequently encountered. Crossed renal ectopia is a condition in which the kidney is located on the side contralateral to its ureteral insertion into the urinary bladder. Crossed renal ectopia without fusion is a very rare anomaly sporadically reported in the literature. We have attempted to analyse such renal anomalies in a large series of patients. Materials & Methods: Contrast enhanced multidetector computed tomographic scans of 960 patients (491 males and 469 females, age range 4-90 years) were reviewed . Observations: Crossed renal ectopia without fusion was detected in three patients (0.31%; 1 in 320 cases). All three patients were males and left- to-right renal ectopia was noted in two cases and right-to-left ectopia in one case, in whom the ectopic right kidney was exhibiting multicystic dysplasia. An interesting observation was vascularisation of crossed ectopic unfused left kidneys by branches arising from the right common iliac artery. Conclusion: Crossed renal ectopia without fusion is an extremely rare anomaly and may remain asymptomatic without being detected. Multidetector computed tomography angiography is an excellent imaging modality to detect renal positional and rotational anomalies. To the best of our knowledge the present study is the first study to detect renal anomalies in a large series of cases.

Renal Problems in Early Adult Patients with Turner Syndrome

PURPOSE: This study aimed to evaluate the status of renal function and the presence of urinary abnormalities in early adult patients with Turner syndrome (TS). METHODS: Sixty-three girls with TS, who are attending pediatric endocrine clinics in Busan Paik Hosp., were studied. Urine and blood chemistry tests were performed in every visiting times. Renal ultrasonography was performed in all patients at the initial diagnosis, and intravenous pyelography, DMSA renal scan and renal CT were also performed, if necessary. RESULTS: Of the 63 patients, the karyotype showed 45,X in 32 (50.8%) , mosaicism in 22 (34.9%) and structural aberration in 9 (14.3%). The renal function at the latest visit was shown as normal in all patients. Nephrotic syndrome had developed in one patient. Hematuria was observed in seven patients. Renal anomalies were observed in 20 of the 63 TS (31.7%). Of the 32 TS patients with 45,X karyotype, 13 (40.6%) had renal anomalies, while these were found in 7 (22.6%) of 31 TS patients with mosaicism/structural aberration. But there was no significant statistical difference between two karyotype groups. CONCLUSION: Based on this study, most of the patients with TS do not have any significant problems related to renal function until early adulthood, regardless of renal malformation or hematuria.

Tracheal agenesis with broncho-esophageal fistula in VACTERL / TACRD association.

Tracheal agenesis (TA) is an extremely rare malformation. We report here autopsy findings in a case of TA with bronchoesophageal fistula of Floyd type III. The other malformations present included laryngeal atresia, Right lung hypolobulation, ventricular septal defect in membranous portion, bilateral cystic renal dysplasia, spleninculus, Meckel's diverticulum, and imperforate anus. The constellations of malformations present in our case have overlapping features with Vertebral anomalies, Anal atresia, Cardiovascular anomalies, Tracheo-esophageal fistula, Esophageal atresia, Renal anomalies, Limb anomalies and Tracheal atresia or laryngo tracheal atresia, Cardiac anomalies, Renal anomalies, Duodenal atresia association described previously in the literature.

A Case of Genitopatellar Syndrome / 대한주산의학회잡지

We report a female with genitopatellar syndrome, a recently identified arthrogryposis syndrome. Genitopatellar syndrome is a suggested autosomal recessive disorder, which is characterized by absent patellae, genital and renal anomalies, dysmorphic features, bilateral hypoplasia of the ischia and corpus callosum dysgenesis, mental retardation, micrognathia and swallowing difficulty. External genital anomaly consists of scrotal hyperplasia, clitoris hypertrophy or small clitoris. Possible renal anomalies are multicystic kidneys or hydronephrosis. Dysmorphic features include a coarse face and a broad nose with a high nasal bridge. In our case, the patient has an absent patellae, hydronephrosis, clitoris hypertrophy, dysmorphic features, club foot, corpus callosum dysgenesis, micrognathia and swallowing difficulty.

Incidence of Renal Anomalies According to the Karyotype in Children with Turner Syndrome / 대한소아내분비학회지

PURPOSE: The prevalence of renal anomalies in Turner syndrome (TS) has been reported varies from 33% to 60%. In order to clarify the true incidence of renal malformations in Korean TS, and the incidence of renal anomalies according to the karyotype, we have a plan to study this subject. METHODS: We evaluated 51 patients with TS diagnosed by karyotype in Inje University Busan Paik Hospital and Youngnam University from January 1995 to March 2005. The study population was divided into two groups according to the cytogenetic results as classic group (45,X karyotype) and variant group (mosaicism and structural aberration). RESULTS: Of the 51 patients, the karyotype showed 45,X in 26 (51.0%) patients, mosaicism in 17 (33.3 %) patients and structural aberration in 8 (15.7%) patients. Of the 26 patients with 45,X karotype, 12 (46.2%) had renal anomalies, while these were found in 7 (28.0%) of the 25 patients with mosaicism/ structural aberration. The renal anomalies included 9 cases of horseshoe kidney, 7 cases of abnormal renal collecting system, 2 cases of single kidney and 1 case of malrotation. CONCLUSION: The incidence of renal anomalies in Korean TS was 37.3%. The incidence of renal anomalies of the patients with 45,X karotype was higher than that of the patients with mosaicism/structural aberration, but the difference was not statistically significant. We recommend that renal ultrasonography or IVP for investigation of renal anomalies should be done as a screening procedure for the better quality of life in patients with TS.

Renal Anomalies in Children with Turner Syndrome

PURPOSE: The prevalence of renal anomalies in Turner syndrome(TS) has been reported to vary from 33% to 60%. The purpose of this study was to clarify the true incidence of renal malformations in Korean TS. METHODS: We evaluated 33 patients with Turner syndrome diagnosed by karyotype in Inje University Busan Paik hospital and Youngnam University from January 1995. Intravenous pyelography(IVP) was performed on all patients; abdominal ultrasonography and 99mTc-DMSA renal scan were performed on some. Cytogenetic analysis was performed on all patients with peripheral blood lymphocytes. RESULTS: Of the total 33 patients, the karyotype showed 45, X in 18(54.5%) patients, mosaicism in 11(33.3%) patients and structural aberration in 4(12.2%) patients. The overall incidence of renal anomalies was 36.4%. The renal anomalies included four cases of horeshoe kidney, six cases of abnormal renal collecting system one case of single kidney and one case of malrotation. The incidence of renal anomalies in 45, X karotype(44.4%) showed a higher rate than that of mosaicism and structural aberration(26.7%), but there is no statistical significance. CONCLUSION: The incidence of renal anomalies in Korean TS reveals 36.4%. This rate is similar to other foreign TS studies. We recommend that renal ultrasonography or IVP for investigation of renal anomalies should be done as a screening procedure for the better quality of life in patients with TS.

Huge Seminal Vesicle Cyst Associated with Ipsilateral Renal Agenesis / 대한남성과학회지

We report a case of huge seminal vesicle cyst associated with ipsilateral renal agenesis in a 49-year-old man with frequency, urethral discomfort with a full bladder, and tenesmus as complaints.