Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0403608 (ureter)
 9,655 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We present two unrelated patients with various duplications in the caudal region. One patient presented with a duplication of the distal spine from L4, left double ureter, duplication of the vagina and cervix, and duplication of the distal colon. The second patient was diagnosed with a duplication of the colon, bladder, vagina and uterus. The first patient had an unaffected monozygotic twin sister. Dominguez et al. [1993: Am J Dis Child 147:1048-1052] presented six similar cases, and introduced the name "caudal duplication syndrome." The pathogenesis of the caudal duplication anomaly is unclear. The possibility of a polytopic primary developmental field defect or a disruptive sequence are discussed. On the other hand, somatic or germline mutations in certain developmental genes could be involved, as illustrated by the mouse mutations disorganisation and fused. DNA-analysis of the AXIN1 gene, the human homologue of the gene responsible for fused, performed in our first patient, did not show any apparent pathogenic mutation.
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PMID:Two cases of the caudal duplication anomaly including a discordant monozygotic twin. 1237 42

Slit3 along with Slit1 and Slit2 comprise the Slit family of proteins. The latter two proteins are known to be involved in axon guidance and cell migration during animal development. However, little is know about the functions of Slit3. We created a Slit3-deficient mouse model from an OmniBank ES cell line with a Slit3 allele trapped by insertional mutagenesis to analyze the in vivo functions of this protein. In this model, congenital diaphragmatic hernia is the most obvious phenotype. Herniation was found to be caused by a defective central tendon (CT) of the diaphragm that remained fused with the liver. Electron microscopic analyses of the defective CT revealed disorganized collagen fibrils that failed to form tight collagen bundles. The hearts of Slit3-deficient mice have an enlarged right ventricle. In addition, 20% of homozygous mice also showed a range of kidney defects that include unilateral or bilateral agenesis of the kidney and ureter, or varying degrees of renal hypoplasia. Thus, we concluded that Slit3 is involved in the development of multiple organ systems that include the diaphragm and the kidney. Slit3-deficient mice represent a genetic animal model for physiological and pathological studies of congenital diaphragmatic hernia.
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PMID:Congenital diaphragmatic hernia, kidney agenesis and cardiac defects associated with Slit3-deficiency in mice. 1455 May 34

Hepatocyte nuclear factor-1beta (HNF-1beta) is a homeodomain-containing transcription factor that regulates tissue-specific gene expression in the kidney and other epithelial organs. Mutations of HNF-1beta produce congenital cystic abnormalities of the kidney, and previous studies showed that HNF-1beta regulates the expression of the autosomal recessive polycystic kidney disease (ARPKD) gene, Pkhd1. Here we show that the C-terminal region of HNF-1beta contains an activation domain that is functional when fused to a heterologous DNA-binding domain. An HNF-1beta deletion mutant lacking the C-terminal domain interacts with wild-type HNF-1beta, binds DNA, and functions as a dominant-negative inhibitor of a chromosomally integrated Pkhd1 promoter. The activation of the Pkhd1 promoter by wild-type HNF-1beta is stimulated by sodium butyrate or coactivators CREB (cAMP-response element)-binding protein (CBP) and P/CAF. The interaction with CBP and P/CAF requires the C-terminal domain. Expression of an HNF-1beta C-terminal deletion mutant in transgenic mice produces renal cysts, increased cell proliferation, and dilatation of the ureter similar to mice with kidney-specific inactivation of HNF-1beta. Pkhd1 expression is inhibited in cystic collecting ducts but not in non-cystic proximal tubules, despite transgene expression in this nephron segment. We conclude that the C-terminal domain of HNF-1beta is required for the activation of the Pkhd1 promoter. Deletion mutants lacking the C-terminal domain function as dominant-negative mutants, possibly by preventing the recruitment of histone acetylases to the promoter. Cyst formation correlates with inhibition of Pkhd1 expression, which argues that mutations of HNF-1beta produce kidney cysts by down-regulating the ARPKD gene, Pkhd1. Expression of HNF-1alpha in proximal tubules may protect against cystogenesis.
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PMID:Role of the hepatocyte nuclear factor-1beta (HNF-1beta) C-terminal domain in Pkhd1 (ARPKD) gene transcription and renal cystogenesis. 1564 52

The authors reported the surgical treatment of a 2-year-old girl with complete duplication of the kidney, ureter, bladder, urethra, and the vulva, associated with intestinal duplication and complete duplication of the appendix and colon. Congenital intestinal malrotation also concurred. After a series of preoperative examinations, exploratory operation including reduction of intestinal malrotation, fusion of bladder and colon, obliteration of the duplicated urethra, resection of the intestinal and appendiceal duplications, and cosmetic repair of the vulva was performed. Incontinence of urine and stool disappeared, and she had been followed up for 10 months until this report. Repeat voiding cystourethrography performed recently demonstrated a fused bladder and the disappearance of the duplicated urethra.
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PMID:An exceptional combined malformation: duplication of the urinary and intestinal tracts and the vulva (04-80CR). 1579 15

We report two cases of rare cystic dilatations of the ejaculatory system. In case 1, a 6-month-old boy was referred to us for the management of recurrent epididymo-orchitis (E-O) complicating open drainage and a colostomy was performed elsewhere for a purulent rectal discharge thought to be rectal duplication. Diagnostic imaging showed a retrovesical cyst. Urethrocystoscopy showed a swelling of the verumontanum. No fistula was seen between the cyst and rectum on colonoscopy. At laparotomy, both ejaculatory ducts and seminal vesicles were found to be fused into a mass with cystic dilatation of the ejaculatory duct. Intraoperative histopathology of the cyst identified a metaplastic epithelial lesion. The cyst was excised with bilateral vasoligation. Since surgery, 8 years ago, urination and defecation have been normal. In case 2, a 4-month-old boy presented with fever and a swollen right scrotum. Ultrasonography showed a retrovesical cyst. Right grade IV vesicoureteral reflux diagnosed on voiding cystourethrography was treated by ureter reimplantation (Cohen) but complicated by recurrent E-O. Urethrocystoscopy with retrograde contrast via the utriculus showed that the cyst opened on the verumontanum, that both ejaculatory ducts opened into the cyst, and there was reflux into the right vas deferens. Right vasoligation alone was performed through a scrotal approach. Although the cyst was not excised, there has been no recurrence of E-O nor enlargement of the cyst for 6 years. Cysts of the ejaculatory system should be considered in the etiology of recurrent E-O in prepubertal children and a high index of awareness is recommended.
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PMID:Cysts of the ejaculatory system: a report of two cases. 1613 9

Semi-serial sections from the lumbosacral region of nine fetuses (8-25 weeks gestation) were examined to clarify the lumbar prevertebral fascial arrangement. The prevertebral fasciae became evident after 12 weeks of age. After 20 weeks of age, the hypogastric nerve (HGN) was sandwiched by two fascial structures; the ventral fascia which seemed to correspond to the mesorectal fascia, whereas the dorsal fascia corresponded to the presacral fascia. These fasciae or the HGN sheaths extended laterally along the ventral aspects of the great vessels and associated lymph follicles. The ventral fascia is, to some extent, fused with the mesocolon descendens on the left side of the body. Notably, the lateral continuation of these two fasciae also sandwiches the left ureter, but not the right ureter, presumably due to modifications by the left-sided fusion fascia. A hypothetical common sheath for the HGN and ureter (i.e., the ureterohypogastric or vesicohypogastric fascia) might thus be an oversimplification. Before retroperitoneal fixation, the morphology of the peritoneal recess along the mesocolon descendens and mesosigmoid suggested interindividual differences in location, shape, and size. Therefore, in adults the ease of surgical separation of the rectum and left-sided colon from the HGN seems to depend on interindividual differences in the development of the embryonic peritoneal recess. On the caudal side of the second sacral segment, fascial structures were restricted along and around the HGN, pelvic splanchnic nerve, and pelvic plexus. The rectal lateral ligament thus seems to represent a kind of migration fascia formed by mechanical stress.
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PMID:Development of the human hypogastric nerve sheath with special reference to the topohistology between the nerve sheath and other prevertebral fascial structures. 1856 17

Removal of toxic substances from the blood depends on patent connections between the kidneys, ureters and bladder that are established when the ureter is transposed from its original insertion site in the Wolffian duct, to the bladder, its final insertion site. The Ureteral Bud Theory of Mackie and Stephens suggests that repositioning of the ureter orifice occurs as the trigone forms from the common nephric duct (CND), the caudal-most Wolffian duct segment. According to this model, insertion of the CND into the bladder and its expansion into the trigone both repositions the ureter in the bladder and enables it to separate from the Wolffian duct. The availability of new mouse models has enabled to re-examine this hypothesis using morphological analysis and lineage studies to follow the fate of the ureter and CND during the maturation process. We find that in contrast to what has been previously thought, the CND does not differentiate into the trigone but instead, undergoes apoptosis, a step that enables the ureter to separate from the Wolffian duct. Apoptosis occurs as the CND and ureter merge with the urogenital sinus positioning the ureter orifice at a site close to the Wolffian duct. Finally, expansion of the bladder moves the ureter orifice which is now fused with epithelium to its final position which is at the bladder neck. Interestingly, CND apoptosis appears to depend on close proximity to the bladder, suggesting that the bladder may be a source of signals that induce cell death. Together, these studies provide new insights into the normal process of ureter maturation, and shed light on possible causes of obstruction and reflux, ureteral abnormalities that affect 1-2% of the human population.
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PMID:Using mouse models to understand normal and abnormal urogenital tract development. 1956 52

Cross-fused renal ectopia is an uncommon anomaly, typically drained by 2 ureters. We present a rare case of a patient with bilateral absence of the vas deferens found to have a "cake" or "lump" kidney with fused collecting systems drained by a single ureter.
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PMID:Pelvic cake kidney with a solitary ureter and bilateral congenital absence of the vas deferens. 1962 69

An ectopic vaginal ureter is an infrequent cause of urinary incontinence. Most cases are associated with a duplex kidney in which the lower moiety ureter drains into the bladder. Occasionally, some cases of ectopic kidney with single vaginal ectopic ureter can occur. In this study, we present a case of chronic continuous urine incontinence caused by the extremely rare combination of a fused-crossed kidney and a single vaginal ectopic ureter. Laparoscopic nephroureterectomy was carried out smoothly and uneventfully. In our experience, laparoscopic navigation and surgery can be valuable tools to delineate and manage unusual congenital anomalies.
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PMID:An atrophic crossed fused kidney with an ectopic vaginal ureter causing urine incontinence. 1993 94

We previously found newborns exhibiting syndactyly of both fore- and hindlimbs in a litter from a pair of Sprague Dawley rats. Continuous breeding of the parental animals yielded pups with the same anomaly in following litters, suggesting that the syndactyly was genetic in origin. In the present study, as all the syndactylous pups died on postnatal day 0, we conducted genetic analyses using 30 phenotypically normal female progeny and the sire. The females were subjected to caesarean section on day 20 of gestation and the fetuses were examined for the phenotypes. The results of the mating experiments suggest that the mutant phenotype is caused by a single autosomal recessive gene at a homozygous condition. As homozygous mutants are lethal at the neonatal stage, the mutant gene was named syndactyly lethal, gene symbol syl. The mutant rats have multiple abnormalities, such as syndactyly, micrognathia, fused/absent/small lung lobes, absent kidney and ureter, small spleen, small uterus, fused phalanges, sternoschisis, absent/detached rib, and splitting/fused/absent/small thoracic vertebra, some of which must be the cause of death on postnatal day 0. This mutant is considered to be useful for investigating the mechanisms and/or pathogenesis of syndactyly, as well as the accompanying malformations.
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PMID:Syndactyly lethal: new mutation with multiple malformations occurring in Sprague Dawley rats. 2002 86


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