Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:Q9UIJ5 (Rec)
 58,342 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The urogenital system was involved in 92 (22.9 per cent) of 401 malformed lambs examined over a three year period; genital 69 (six males: one female) and urinary 23 (three males: one female). Ten lambs had both genital and urinary defects. Sixty-eight (73.0 per cent) of the 92 lambs had defects of other organs, the most common being atresia ani, various skeletal and central nervous system defects, and arthrogryposis. The most common external defect of the male genital system was partial to complete cleft of the scrotum and the most common internal defect was cryptorchidism (six unilateral and 12 bilateral). Both penile agenesis and diphallia were observed twice. Defects of the female genital system included two uterine agenesis, four atresia vaginam, and one freemartin. Male pseudohermaphroditism was found in three lambs. The most common external urinary defect was male hypospadias and the most common internal defect was renal agenesis (12 unilateral and one bilateral). Other urinary defects were hydronephrosis (two unilateral and two bilateral), cystic kidneys (four unilateral and two bilateral), one bilateral polycystic kidneys, one patent urachus and six dysgenic kidneys.
Vet Rec 1979 Oct 13
PMID:Urogenital defects in sheep. 55 25

Pregnant Wistar rats injected intraperitoneally on gestational day 12 with single doses (100-1,000 mg/kg) or 600 mg/kg of 4(5)-(3,3-dimethyl-1-triazeno) imidazole-4-carboxamide (dic) were autopsied on day 21 (100-1,000 mg/kg) or at 24-hour intervals on days 13-20 (600 mg/kg). Controls received CMC on the same schedule. All fetuses were weighed and examined for urogenital system (UGS) malformations. Those given 600 mg/kg were also studied histologically. DIC produced significant growth retardation at all doses on day 21 (18-72%). UGS malformations occurred in 27-67% of the fetuses at 200-400 mg/kg and in 100% of those given 600 mg/kg or more of DIC. Abnormalities included renal growth inhibition, fusion, ectopia, and ureteropelvic dilatation. At 600 mg/kg renal and body weights were reduced 40 and 55%, respectively. Ureteropelvic dilation was common, and cortical glomeruli, nephric collecting tubules, and papillae were retarded in development. The juxtamedullary glomeruli were well developed. Proximal nephric tubular mitotic activity was 85% greater than in control animals (day 17). On the basis of pertinent morphological and physiological data, it is postulated that the dilated upper urinary tracts represent functional hydronephrosis incident to severe renal retardation and its resultant compensatory response.
Anat Rec 1976 Nov
PMID:Urogenital anomalies in fetal rats produced by the anticancer agent 4(5)-(3,3-dimethyl-1-triazeno) imidazole-4-carboxamide. 99 39

Close phenotypic similarity between two cases carrying a rec(3) dup q,inv(3) (p25q21), 12 additional infants from the same inv (3)(p25q21) kindred who lived less than 1 year, and eight cases studied in other medical centers has led us to postulate the existence of a distinct chromosome 3 duplication-deletion syndrome. In the presence of trisomy for (3)q21 leads to qter and monosomy for (3)p25 leads to pter, the facial dysmorphy is unique: a distorted head shape due to irregular cranial sutures, thick low eyebrows, long eyelashes, persistent lanugo, distended veins on the scalp, hypertelorism, oblique palpebral fissures, a very short nose with a broad depressed bridge and anteverted nares, protruding maxilla, thin upper lip, micrognathia, low-set ears, and a short webbed neck. Port-wine stains, congenital glaucoma, cloudy corneas, cleft palate and harelip also occur frequently. Each infant has difficulty sucking and swallowing. Congenital anomalies of the cardiovascular system, of midgut rotation, and of the urogenital system are noted for the infants who died neonatally. Most frequent is a ventricular septal defect, followed by atrial septal defect, patent ductus arteriosus, patent foramen ovale, and coarctation of the aorta. Omphalocele, umbilical hernia, hyperplastic kidneys, polycystic kidneys, double ureter, hydro-ureter, hydronephrosis, and undescended testes often occur. The extremities are short in proportion to the length of the trunk. Clinodactyly, coxa valga, talipes, and spina bifida are frequently observed.
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PMID:Chromosome 3 duplication q21 leads to qter deletion p25 leads to pter syndrome in children of carriers of a pericentric inversion inv(3) (p25q21). 120 27

Nineteen cases of feline congenital urinary incontinence (10 cats with ureteral ectopia and nine with incompetence of the urethral sphincter mechanism) are reviewed. The 10 cats with ureteral ectopia are considered together with 13 from previous reports. There was no apparent breed predisposition. Most of the 23 cats were presented for urinary incontinence but two of them were continent. Thirteen were females and ectopia was unilateral in 13 and bilateral in 10. Twenty-eight of 31 ectopic ureters terminated in the urethra. The commonest complication was hydroureter/hydronephrosis (10 cases). Eighteen of the cats were treated surgically, 13 by ureteral transplantation, four by ureteronephrectomy and one by ligation of the renal blood vessels; 16 of them were cured by surgery. Congenital urethral sphincter mechanism incompetence has not been reported previously in the cat. Nine cases are presented and the urethras of all were markedly hypoplastic. A common concomitant abnormality was vaginal aplasia, with the uterine horns terminating in the dorsum of the bladder. Bacteriuria was more common in this group than in the cats with ureteral ectopia.
Vet Rec 1992 May 16
PMID:Congenital urinary incontinence in cats: a review of 19 cases. 162 41

The case histories of 175 dogs with ureteral ectopia were reviewed; there were 156 females and 19 males. Golden retrievers, labrador retrievers and Skye terriers appeared to be over-represented. Their median age when examined was 10 months, and the males were significantly older than the females. Fifty-six animals were affected bilaterally, 50 were affected on the left side alone and 69 on the right side alone. One hundred and twenty-two cases had other abnormalities and 67 had more than one; they included hydro-ureter, hydronephrosis, pyelonephritis, bladder hypoplasia and congenital incompetence of the urethral sphincter mechanism. Forty-one cases were not treated, and the other 134 were treated by ureteronephrectomy, extravesicular ureteric transplantation or intravesicular ureteric transplantation. One hundred and twelve cases were available for follow-up for a median period of over two years (range one month to 15 years). The response to surgery and the incidence of complications was similar after each method of treatment. Sixty-five of the 112 cases were cured of incontinence and 26 were improved. The complication rate (14 per cent overall) was similar for each procedure although different types of complications occurred. Hydronephrosis occurred most commonly after extravesicular transplantation and dysuria occurred most commonly after intravesicular transplantation.
Vet Rec 1995 Apr 08
PMID:Canine ureteral ectopia: an analysis of 175 cases and comparison of surgical treatments. 761 May 37

A seven-month-old male alpaca (Lama pacos) with signs of abdominal straining was examined. A fluid-filled structure was palpable in the mid-abdominal region, and ultrasonography revealed a hydronephrosis of the right kidney, with an associated mega-ureter. The affected kidney was removed and the clinical signs resolved. Histological examination of the kidney revealed the unusual congenital abnormality of ureteral duplication. It is suggested that the hydronephrosis developed as a result of this underlying condition.
Vet Rec 1999 Jul 24
PMID:Hydronephrosis and ureteral duplication in a young alpaca. 1046 35

A rec(5)dup(5)(q23.2q31.3) inherited from a maternal ins(5)(p13.1q23.2q31.3) was detected in a 4-month-old male child who showed hypotonia, microcephaly, cardiac defects, pulmonary hypoplasia and stenosis, bilateral hydronephrosis, hydrocele, testicular hypoplasia and phimosis. Dysmorphisms were also observed. We compare the clinical characteristics of our patient with those of the previously reported dup5q cases in an attempt to define the phenotype-karyotype correlation. The maternal insertion responsible for the duplicated 5q23.2-31.3 region in the child was characterized in detail by FISH analysis, which identified a complex rearrangement involving four breakpoints (bkp's): a 5q segment excised following breakage at 5q23.2 and 5q31.3 became inverted and inserted at 5p13.1, probably coincidentally with an internal breakage at 5q23.3 causing a 180 degrees rotation of the two subsegments. The mother's karyotype was consequently defined as 46,XX, ins(5)(pter --> p13.1 Colon, two colons q23.3 --> q23.2 Colon, two colons q31.3 --> q23.3 Colon, two colons p13.1 --> q23.2 Colon, two colons q31.3 --> qter). There are clusters of Alu sequences in the genomic clones spanning all the four bkp's, suggesting their possible involvement in the rearrangement. No clinical phenotype was associated with this balanced rearrangement in the mother and a number of other carriers in the same family.
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PMID:Unbalanced segregation of a complex four-break 5q23-31 insertion in the 5p13 band in a malformed child. 1505 94

By exposing rat fetuses to adriamycin prenatally, a rat model of VATER association has been created. Absence of the fetal bladder is prominent and the kidneys show features of chronic obstruction with hydronephrosis/hydroureter, loss of parenchyma, fewer glomeruli, and less differentiation. The aim of this study was to elucidate this rat model, to determine exactly when the changes in the kidneys develop, hopefully thereby to expand our understanding of congenital obstructive uropathy. Timed-pregnant Sprague-Dawley rats were injected intraperitoneally with adriamycin on days 6-9 of gestation. The control group received saline. Fetuses were recovered on gestational days (GDs) 20, 19, 18, 17, 16, 15, 14, 12, and 10 (total, 120 control, 121 treated). Macroscopic features were determined. Serial sections were then taken and stained with hematoxylin and eosin. Comparisons were made under light microscopy. The metanephric kidney first became apparent at GD12. The development of the control and treated kidneys appeared similar till GD18. Beyond this day, the treated kidneys exhibited increasing degrees of distension of Bowman's capsule, ducts, and subsequently pelvis and ureter. There were fewer levels of glomeruli, which were also less differentiated. Less differentiation was also noted in the medulla, and with time this became thin in comparison to the control kidneys. By GD20, the renal pelvis was grossly dilated with a blunted papilla, and the renal parenchyma was thin. Prenatal exposure of rat fetuses to adriamycin results in kidneys that are chronically obstructed, as the majority of the fetuses show absence of the bladder. Absence of renal dysmorphology until GD18, when urine is first produced, suggests strongly that the effect of adriamycin on the kidney is indirect, via agenesis of the bladder and secondary to backpressure from early urine production. This is a unique, simple, and reliable model of fetal obstructive uropathy and will be very useful to facilitate further investigation into its pathophysiology and to explore new treatment options.
Anat Rec A Discov Mol Cell Evol Biol 2004 Jun
PMID:Ontogeny of the VATER kidney in a rat model. 1516 39

Prenatal diagnosis of trisomy 7 is complex due to only a few reported cases. We report here on a stillborn boy with very large duplication of 7q11.22 --> qter, encompassing almost the entire long arm of chromosome 7. Ultrasound, fetal and parental chromosome banding, fluorescence in situ hybridization (FISH), and array comparative genomic hybridization (CGH) analyses were performed. Sonographic findings included growth retardation, micrognathia, ventricular septal defect (VSD), aortic coarctation, bradyarrhythmia, pericardial effusion, bilateral hydronephrosis, infravesical obstruction, and cerebellar hypoplasia. Chromosome analysis after cordocentesis at 23 weeks of gestation revealed an abnormal male karyotype with 46 chromosomes and a derivative chromosome 7 with a very large duplication of the long arm, 46,XY,der(7)(qter --> q11.2::p22 --> qter). The mother was found to carry an apparently balanced pericentric inversion, 46,XX,inv(7)(p22q11.2). Thus, the recombinant chromosome 7 [rec(7)dup(7q)inv(7)(p22.3q11.22)mat] of the fetus must have arisen through meiotic crossing-over between the inverted chromosome and the normal chromosome 7 in the maternal germline. FISH and array CGH results confirmed the recombinant chromosome 7 in the fetus and indicated a loss of 1.9 Mb at chromosome 7pter --> p22.3 (pter to 1,948,072 bp), and a gain of 87.04 Mb at chromosome 7q11.22 --> qter (71,760,154 bp to qter). The rare syndrome of almost complete trisomy 7q may be suspected in cases of growth retardation, cerebellar hypoplasia, micrognathia, aortic coarctation and VSD and hydronephrosis. Invasive prenatal diagnosis must be offered to the parents.
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PMID:Prenatal diagnosis of a recombinant chromosome 7 resulting in trisomy 7q11.22 --> qter. 2018 10

Congenital anomalies of the kidney and urinary tract occur at a frequency of 1 in 500 live births in humans. Mutant mice null for Dlg1 (Dlg1(-/-) mice), a membrane-associated guanylate kinase containing PDZ domains, exhibit various urogenital malformations, including hypoplasia of the kidney and ureter, megaureter, hydronephrosis, and aplasia of the seminal vesicle and the vagina. The common nephric duct (CND) is a distal part of the Wolffian duct between the ureteric branch and the opening to the urogenital sinus, and normally disappears by embryonic day (E) 12.5 by a downward shift of the ureteric branch. Although retardation of the disappearance of the CND is apparent during urogenital development in Dlg1(-/-) mice, its pathogenesis and prognosis are unclear. In the present study, we found a decrease in apoptotic cells in the CND epithelium in Dlg1(-/-) mice at E11.5. Cell proliferation did not change. Additionally, histological observation of the development of the ureteral orifice indicated that the CND remained at E15.5 and was widely open to the vesical lumen in Dlg1(-/-) mice, in contrast to the complete disappearance of the CND and a narrow ureteric orifice in control mice. The dilatation of the vesicoureteral junction remained at E18.5. Opening of the vesicoureteral junction is known to cause vesicoureteral reflux and subsequent megaureter and hydronephrosis. Therefore, our present observation demonstrates that lack of the Dlg1 gene induces a decrease in apoptotic epithelial cell death and the persistence of the CND, which result in a dysfunctional vesicoureteral junction and cause megaureter or hydronephrosis through vesicoureteral reflux.
Anat Rec (Hoboken) 2013 Dec
PMID:Decreased apoptosis and persistence of the common nephric duct during the development of an aberrant vesicoureteral junction in Dlg1 gene-targeted mice. 2414 60


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