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

Congenital Abnormalities ; pathology ; Endometrial Neoplasms ; pathology ; Female ; Humans ; Kidney ; abnormalities ; pathology ; Kidney Diseases ; congenital ; pathology ; Middle Aged ; Mullerian Ducts ; abnormalities

Hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is a rare condition inherited as autosomal dominant trait and characterized by hypoparathyroidism, sensorineural deafness, and renal dysplasia. HDR syndrome is caused by haploinsufficiency of the GATA3 gene located on chromosome 10p15. Here, we report the case of a 32-day-old Korean male with HDR syndrome. He was presented due to repeated seizures over previous 3 days. The patient was born after 40 weeks of gestation with birth weight of 2930 g, and was the first-born baby of healthy Korean parents. Hypoparathyroidism was first noticed due to seizure. A multicystic left dysplastic kidney and vesicoureteral reflux were detected by ultrasound after birth. Auditory brainstem response (ABR) testing revealed that the patient had moderate sensorineural deafness, with hearing losses of 80 dB at the mid and higher frequencies for both ears. Echocardiography finding revealed secundum atrial septal deftect. Based on biochemical results and clinical findings, a presumptive diagnosis of HDR syndrome was made. GATA3 mutation analysis identified a heterozygous deletion, c.153del (p.Phe51Leufs*144) in exon 1 causing a frameshift mutation, which is a novel de novo mutation. Therefore, we suggest that HDR syndrome should be considered in the differential diagnosis in symptomatic or asymptomatic patients with hypoparathyroidism, and that renal ultrasound or ABR testing be performed to prevent a missed diagnosis. This is the first report on Korean patient with confirmed HDR syndrome with novel mutation.
Base Sequence ; DNA Mutational Analysis ; GATA3 Transcription Factor/genetics ; Hearing Loss, Sensorineural/*genetics/*pathology ; Heterozygote ; Humans ; Hypoparathyroidism/*genetics/*pathology ; Infant, Newborn ; Kidney/abnormalities/ultrasonography ; Male ; Molecular Sequence Data ; Nephrosis/*genetics/*pathology ; Reproducibility of Results ; Republic of Korea ; Sequence Deletion

Calyceal diverticulum is a cystic intrarenal cavity lined by nonsecretory transitional epithelium that communicates with the collecting system via a narrow isthmus or infundibulum. It is a rare anatomic anomaly with an incidence of 0.2% to 0.6% in the patients undergoing renal imaging.1 Single imaging modality usually cannot differentiate calyceal diverticulum from other cystic renal diseases.2 Here, we report a 60-year-old male who was reliably diagnosed with calyceal diverticulum by retrograde urography combined with non-enhanced computed tomography (CT) and magnetic resonance urography (MRU).
Cysts ; diagnosis ; diagnostic imaging ; Diagnosis, Differential ; Humans ; Kidney ; abnormalities ; diagnostic imaging ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Pelvis ; diagnostic imaging ; pathology ; Tomography, X-Ray Computed

OBJECTIVETo study the clinical characteristics and diagnostic methods of rare autosomal recessive inherited Bardet-Biedl syndrome in patients presented with renal abnormalities.

METHODComprehensive analyses were performed on data of 4 confirmed Bardet-Biedl syndrome cases seen at nephrology department of Beijing Children Hospital affiliated to Capital Medical University, including clinical features, laboratory examination and diagnostic criteria.

RESULT(1) Four cases were confirmed to meet Bardet-Biedl syndrome diagnostic criteria (male: female = 1: 1): first diagnosis age was 10 y, 9 y 8 m, 10 y 10 m, 8 y 2 m. (2) Cases 1, 2, and 3 had a history of polyuria and polydipsia, cases 4 began with edema and oliguria. (3) All had slight change in urine routine test. Case 3 and Case 4 were presented with small to medium amount of proteinuria. None had microscopic hematuria. (4) All had different degree of renal injury, Case 1 and 3 were at the third phase of chronic kidney disease (CKD), Case 4 was at the fourth phase of CKD, Case 4 was at the fifth phase of CKD and needed dialysis. (5) All cases had obvious abnormalities of urinary tract ultrasound, 3 of them had chronic diffuse lesions with cyst formation of both kidneys. The rest one had dysplasia of right kidney and fused kidney. (6) All cases were presented with vision loss with 100% of electroretinogram abnormalities and 50% of fundus examination abnormalities. (7) Three cases were presented with obesity. (8) Multiple organs were involved in all cases, including electrocardiographic abnormality and/or thickening of the left ventricular wall (4/4) , polydactyly (2/4) , small penis and testicles (2/4) and short stature (2/4) .

CONCLUSIONClinical manifestations of Bardet-Biedl syndrome (BBS) conceals, routine urine test changes slightly, abnormalities of renal structure and (or) tubular interstitial function is a typical manifestation of children with BBS. Urinary tract ultrasound screening may show diffuse lesions with double kidney with cyst formation or structural abnormalities. Clinical manifestation accompany with retinal degeneration, obesity, myocardial involvement, polydactyly, and hypogonadism.

Abnormalities, Multiple ; Bardet-Biedl Syndrome ; complications ; diagnosis ; pathology ; Biomarkers ; blood ; urine ; Child ; Female ; Humans ; Intellectual Disability ; Kidney ; abnormalities ; diagnostic imaging ; Kidney Diseases ; diagnosis ; etiology ; pathology ; Male ; Renal Insufficiency ; etiology ; pathology ; Retinal Diseases ; etiology ; pathology ; Tomography, X-Ray Computed ; Ultrasonography, Doppler, Color

OBJECTIVETo identify the anatomical variability of the left spermatic vein (LSV) and determine its effect on the induction of experimental left varicocele (ELV) in adolescent rats.

METHODSWe equally randomized 30 adolescent male SD rats to groups A (LSV collaterals fully ligated and the left renal vein constricted), B (only the left renal vein constricted), and C (sham operation), observed the courses of the LSVs and measured their diameters. At 30 days after operation, we analyzed the changes in the left kidneys and the diameters of the LSVs.

RESULTSIrregular collaterals were observed in 90% of the LSVs and no abnormal changes were found in the left kidneys after surgery. The postoperative LSV diameter was remarkably increased in group A as compared with the baseline ([1.47 +/- 0.15 ] vs [0.16 +/- 0.08] mm, P < 0.01), but showed no significant difference in group B ([0.31 +/- 0.49] vs [0.15 +/- 0.07] mm, P > 0.05) and C ([0.17 +/- 0.07] vs [0.16 +/- 0.06] mm, P > 0.05), and it was significantly longer in A than in B (P < 0.01). The success rate of ELV induction was 100% in group A and 10% in group B, but no varicocele was observed in group C.

CONCLUSIONCorrect identification of the anatomical course of the LSV and ligation of its irregular collaterals are essential for the establishment of a stable and consistent ELV model.

Animals ; Disease Models, Animal ; Kidney ; pathology ; Ligation ; Male ; Rats ; Rats, Sprague-Dawley ; Spermatic Cord ; blood supply ; Varicocele ; Veins ; abnormalities

We present a case of vaginal ectopic ureter with ipsilateral partial duplication of the upper ureter (Y-type ureter), ipsilateral hypoplastic pelvic kidney and bicornuate uterus in a 20-year-old woman who presented with mild urinary incontinence since infancy. Ultrasonography, computed tomography and intravenous pyelography examination showed a left kidney with no evidence of a right kidney. Cystourethroscopy showed absence of the right hemitrigone. Magnetic resonance (MR) urography demonstrated the presence of a bicornuate uterus, an ectopic dysplastic right kidney in the pelvic cavity, and a right ureter that terminates in the vaginae fornix. The patient underwent right nephroureterectomy and urinary continence was restored completely. Although congenital malformations of the urinary tract are frequently associated with genital tract abnormalities, to best our knowledge, this is the first report of the coexistence of all of these anomalies in an individual. Our report also highlights the importance of MR urography in the diagnosis of such rare and complex anomalies.
Female ; Humans ; Kidney ; abnormalities ; pathology ; Kidney Diseases ; diagnosis ; pathology ; Magnetic Resonance Imaging ; Ureter ; abnormalities ; pathology ; Urinary Incontinence ; etiology ; Uterus ; abnormalities ; pathology ; Vagina ; abnormalities ; pathology ; Young Adult

OBJECTIVE: To analyze magnetic resonance imaging (MRI) findings of Mullerian remnants in young females clinically suspected of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome in a primary amenorrhea workup. MATERIALS AND METHODS: Fifteen young females underwent multiplanar T2- and transverse T1-weighted MRI at either a 1.5T or 3.0T MR imager. Two gynecologic radiologists reached consensus decisions for the evaluation of Mullerian remnants, vagina, ovaries, and associated findings. RESULTS: All cases had bilateral uterine buds in the pelvic cavity, with unilateral cavitation in two cases. The buds had an average long-axis diameter of 2.64 +/- 0.65 cm. In all cases, bilateral buds were connected with fibrous band-like structures. In 13 cases, the band-like structures converged at the midline or a paramedian triangular soft tissue lying above the bladder dome. The lower one-third of the vagina was identified in 14 cases. Fourteen cases showed bilateral normal ovaries near the uterine buds. One unilateral pelvic kidney, one unilateral renal agenesis, one mild scoliosis, and three lumbar sacralization cases were found as associated findings. CONCLUSION: Typical Mullerian remnants in MRKH syndrome consist of bilateral uterine buds connected by the fibrous band-like structures, which converge at the midline triangular soft tissue lying above the bladder dome.
Abnormalities, Multiple/*pathology ; Adolescent ; Adult ; Female ; Humans ; Kidney/abnormalities/pathology ; Magnetic Resonance Imaging/*methods ; Middle Aged ; Mullerian Ducts/abnormalities/pathology ; Retrospective Studies ; Somites/abnormalities/pathology ; Spine/abnormalities/pathology ; Uterus/abnormalities/pathology ; Vagina/abnormalities/pathology

One of the most widespread cellular organelles in nature is cilium, which is found in many unicellular and multicellular organisms. Formerly thought to be a mostly vestigial organelle, the cilium has been discovered in the past several decades to play critical motile and sensory roles involved in normal organogenesis during development. The role of cilia has also been implicated in an ever increasing array of seemingly unrelated human diseases, including blindness, kidney cysts, neural tube defects and obesity. In this article we review some of the recent developments in research on cilia, and how defects in ciliogenesis and function can give rise to developmental disorders and disease.
Abnormalities, Multiple ; pathology ; Animals ; Cerebellar Diseases ; genetics ; pathology ; Cilia ; physiology ; ultrastructure ; Flagella ; physiology ; Hedgehog Proteins ; metabolism ; Humans ; Models, Animal ; Polycystic Kidney Diseases ; pathology ; Protein Transport ; Signal Transduction ; Wnt Proteins ; metabolism

PURPOSE: A seminal vesicle cyst in combination with ipsilateral renal agenesis is rarely encountered. We present cases of this disease entity with symptoms, which were treated with a laparoscopic approach as a minimally invasive surgical treatment. MATERIALS AND METHODS: We experienced 4 patients with seminal vesicle cysts and ipsilateral renal agenesis. The mean age was 45.8 years. Chief complaints were perineal pain and hematospermia. Seminal vesicle cysts and remnant ureters were excised by laparoscopic surgery with transperitoneal approaches. RESULTS: The mean operative time was 133.8 minutes. The mean hospital stay was 6.8 days. There were no operative complications or transfusions. CONCLUSION: In our report, patients of congenital seminal vesicle cyst associated with renal agenesis are presented. Laparoscopy is considered a minimal invasive management of these combined anomalies, providing a good image and an easy approach.
Adult ; Aged ; Cysts/*congenital/*diagnosis/surgery ; Genital Diseases, Male/congenital/diagnosis/surgery ; Humans ; Kidney/*abnormalities/surgery ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Seminal Vesicles/*pathology/radiography/surgery ; Tomography, X-Ray Computed ; Young Adult