Developmental abnormalities

pediatria

Abnormalities of the urinary tract and male genital development are of great importance clinical in relation to their frequently observed (35-40% of all organic malformations) and high morbidity of the organs that are affected. They occur often associated with malformations of other organs and systems in real syndromes. The element pathophysiological they have in common is identifiable in a functional or structural alteration of urinary flow that may apply to one district (for example, a glass) or the entire route Upper tract. This favors, through the urinary stasis, the occurrence of secondary infection and calculi.

Pathology their goblets kidney

These anomalies related to alterations of the development of the ureteric bud. From a clinical not present with pathognomonic signs. The subjective symptoms manifested by pain, hematuria, and recurrent urinary tract infections. The diagnosis is radiological. Surgical therapy is conservative and makes use of plastic operations or, in more severe cases, amputations polar or kidney resections.

-         Diverticula goblets and pelvis: consist of cystic cavities, located in full renal parenchyma, communicating with the cup or the pelvis by means of a thin coated via by transitional epithelium. Often get complicated with calculi. To document how you urography cavity atonic, paracaliciali you radiopacizzano contrast medium. The channel Communication is not always documented.

-         Megacalice and megapolicalicosi: dilations elective or diffuse goblets with increased of their number, is not supported due to obstructive. From the point of view anatomoistologico are characterized by congenital hypoplasia of the pyramid Malpighi with normal structures glomerulotubulari. Are often associated with the disease ureteropelvic junction and are complicated by stones. At radiourografia is documented an increase in number and size of the glasses that appear faceted appearance ("Roman mosaic") with ampoule kidney and urinary tract High unscathed.

-         Idrocalicosi congenital dilatation elective of a chalice for stenosis of the pedicle (plant abnormal the pelvis with consequent alteration of the dynamics calicopielica and hypertrophy smooth muscle pedicle sclerosis). At radiourografia we highlight the ectasia caliciale and signs of parenchymal inflammation secondary.

-          Goblets extrarenal: characterized by dislocation topographic extrarenal pelvis and chalices. The kidney is crushed in anteroposterior diameters up to assume a discoid. The hilum is expanded and further forwards. Concomitano often vascular abnormalities. The malformation is associated with other abnormalities of shape and location of the kidney (merger with the kidney contralateral, dystopia and ectopic). The diagnosis is radiologica.Alla radiourografia is identified the typical appearance "to rake gardener".

-         Syndrome glass top or syndrome Fraley: elective dilation of the cup or the group caliciale superior intrinsic stenosis or vascular compression of the pedicle. On functionally hypokinesia or atony of the district concerned than the rest of the urinary tract that presents instead normal. Clinically, pain can be seen also in "type colic" with recurrent urinary infection. At radiourografia, signs of ectasia caliciale upper pedicle thin and elongated appearance with dual type district incomplete.

Alterations in number and location

-Renal agenesis is relatively frequent observation (1 in 1000), may be associated with complete or partial absence of the ureter (ureter dead-end). normally the adrenal gland is present (the association of unilateral renal and adrenal is found in 2% of autopsies). The contralateral kidney is constantly in compensatory hypertrophy. The renal agenesis is asymptomatic and his response is often incidental being instrumental investigations carried out for screening or other symptoms. At radiourografia you notice the absence shadow renal failure and opacification of the urinary tract. The alternative diagnostic constituted by ultrasonography and computed tomography. Arteriography and cystoscopy identifying respectively the absence of renal and ureteral ostium.

- Rene supernumerary: of rare observation. It consists of renal parenchyma often connected partially or completely to normal kidney and almost always abnormal way. Upper tract. Clinically it may manifest with pain, recurrent urinary infection and hypertension nefrogena. The diagnosis is radiological (radiourografia, ultrasound, computed tomography, arteriography).

- Ectopies kidney: are characterized by an abnormal position of the kidney which are associated systematically abnormal vascularization. The diagnosis of renal ectopia is radiological. Urography allows to highlight the topography of kidney, malrotation longitudinal axis and the conformation of the urinary tract. Arteriography allows to verify the vascular morphology, which can originate from the aorta abdominal or even the iliac arteries. Regarding the differential diagnosis, it is imposed with renal ptosis which consists of a modification of the original position in relation to the posture of the kidney with a rotation about the transverse axis; all'arteriografia proves the normal position of the renal compared aorta but with an oblique course and a length substantially greater than normal (up to 10-12 cm). From a clinical ectopies the kidney have some interest in relation to the possible morbidity (calculi and pyelonephritis) for abnormalities of the urinary outflow resulting from malformations or to kinking calicopieloureterali.

- Renal hypoplasia

It may be primary (congenital) or secondary to parenchymal disease processes and can affect one or both kidneys. Congenital kidney disease are observed in which both kidneys are hypoplastic nephronophthisis, the uremic medullary cystic disease family, bilateral renal hypoplasia with oligomeganefronia. A typical example of nephropathy is instead acquired bilateral chronic glomerulonephritis. Are of greater clinical interest instead unilateral hypoplasia. Among the congenital forms the most municipality consists of the small hypoplastic kidney (1/6, ¼ of the volume of normal kidney) resulting, in terms of etiological, ischemia by insufficient or abnormal development of the pedicle vascular. The latter, in relation to the variability of vascular anomalies that can be more or less extended, can induce hypoplasia or simple harmonic, characterized by normal parenchyma, and a hypoplasia or dysplasia parenchyma irregular, characterized by a defect in part of tissue differentiation metanefrogeno with persistence of inadequate facilities at the age of subject, in relation to impaired function of the ampullary portions of the branching ureteral button. Some hypoplastic kidneys are asymptomatic and discovered incidentally. In other cases (especially in those associated with dysplasia) they are diagnosed by the presence of pain, urinary infection, albuminuria or hypertension. The diagnosis is radiological (x-ray, urography, ultrasonography, possibly angiography). the diagnosis differential must be made with the forms of small secondary kidney; among them the small kidney vascular (from obliteration arterial or venous thrombosis), the small kidney postnefritico (interstitial nephritis, tuberculosis) or obstructive origin (outcomes of ureteral obstruction). The therapy is radical surgical in cases of manifest symptomatology and especially arterial hypertension.

Symphysis renal

Group of malformation characterized by the fusion of the two kidneys, each of which retains However its system manifold. In the kidney horseshoe (1 in 600 births) union between the two parenchyma may be mediated by an isthmus also parenchymal or fibrous, located in front of the aorta and to the quarry are often vascular anomalies (supernumerary arteries to anomalous origin) and pielo-calyceal (chalices and extrarenal pelvis, not sloping high insertion of the ureteropelvic junction). The horseshoe kidney is clinically asymptomatic and is incidental finding in many cases; rarely shows hydronephrosis, stones and pyelonephritis, related to the difficulty of outflow Urinary. Rarely can cause a syndrome with characteristic referred pain periumbilical or epigastric more evident however in hyperinflation (Rovsing's sign) or a disorder digestive syndrome (Gutierrez). At radiourografia is detected obliquity medial pole kidney lower longitudinal malrotation of urinary tract with pelvis sagittal and goblets lower closest to the midline. Urografici dynamic studies have ruled out the alteration of runoff Urinary compression isthmus on the urinary tract. Morbidity kidney horseshoe is therefore be correlated to altered dynamics pielocaliciale. In cases where the presence of pathology associated conditions surgery (which is still conservative), the latter should tend to the correction of the urinary tract in order to improve the dynamic calicopielica (through the section of the isthmus and plastic ureteropelvic), in addition to the elimination of associated pathology (stones, hydronephrosis). In the case of kidney stones is also possible, in the light of current therapeutic options, make a clearance calculation by extracorporeal shock wave lithotripsy and delegate any intervention in case of relapse or failure to remove the fragments.

Duplicity ureteropelvic

Is a malformation quite frequent and of which there are two variants: a complete and incomplete or partial. In the first case there is an outlet to separate the two ureters into the bladder, where the meatus superolateral corresponds all'emirene lower (Law Weigert); the two ureters also starting to run into one sheath and intersect. In the second case (bifid ureter) is the confluence of the ureters before the entrance into the bladder. The duplicity ureteropelvic is often associated with other malformations such as the ureteral orifice ectopic, the ureterocele, the pathology of the ureteropelvic junction, congenital stenosis of the ureter terminal, and is often asymptomatic. Often occurs when associated with another disease acquired (in particular the calculi). In other cases the pain and recurring infections are correlated to the multitudes of urinary flow (in particularly at the confluence of the two ureters - phenomenon of yo-yo - or the point of their intersection). The diagnosis is urographic with particular indication dynamic study regarding the above problems described. Surgical therapy varies from case to case and may be conservative, or simple plastic demolitiva of the urinary tract.

Ureter dead-end and Retrocaval

Of rare observation, the ureter dead-end is documented investigations and contrastographic especially in the course of cystography. May be responsible for recurrent infections. The treatment is surgical and consists nell'ureterectomia. In cases of Retrocaval ureter ureter creeps in a horizontal between the spine and the quarry at III-IV of the lumbar vertebra and emerges between the aorta and cava, obliquely crosses the front face quarry and resumes its normal route. It therefore creates a spiral around the quarry which can be due to obstruction of the urinary flow also in relation to the possibility of a periureterite fibrous.

Follows a venous vascular anomaly (resorption atypical of cardinal veins). Symptoms are nonspecific pain, hematuria and recurrent infections. The diagnosis is urographic with renal pelvis and ureter and dilated infundibulum prestenotic lying; to lumbar ureter forms a siphon S Italic, open medially and upward. To investigations dynamic pelvis and ureter sopracavale are atonic. The therapy is surgical interventions with plastic terminoterminale.

Syndrome dell'ovarica

Clinical and radiological related to ureteral compression (more frequent on the left) by plexus ovarian ectatic causes congenital or acquired. From a clinical syndrome dell'ovarica is expressed with flank pain with the rhythmic cycle menstruation, which can sometimes be building up and take on the characteristics of colic renoureterale, especially in the premenstrual phase. The diagnosis urographic detects a ectasia upstream one or more fingerprints of the vascular type that are changed to vary the decubitus of the patient, usually located at the level of the first sacral foramina or lower levels. Surgical therapy involves alternately section vascular or transposition with ureteral section and Plastic-to-end.

Megaureter

It consists of a dilatation of the ureter is not resulting in a ureteral obstruction. The impairment of the renal parenchyma is related to the extent of Megaureter (absent or scarce in Megaureter cases of segmental and remarkable in the cases dolicomegauretere). We distinguish idiopathic or primitive, based congenital prevalent observation of age pediatric, which may affect all the ureter or a portion of it (Megaureter segmental); in cases where there is also a greater length of the ureter it comes to dolicomegauretere. The secondary forms are resulting from changes in bladder function for cervico-urethral obstruction or neurogenic bladder. Stands still Megaureter with reflux (with normal or dilated ureteral meatus) and without reflux (with meatus ureteral stricture). The symptoms are characterized by pain and recurrent infections; in severe cases kidney failure. The diagnosis must ascertain urographic addition to pathological also functionality of the ureter in view of a surgical correction; cystography should detect any presence of reflux. Surgical therapy is feasible in cases clinically manifest and especially affecting the renal function (resection and reimplantation into the bladder with antireflux technique).

Ureterocele

It is a dilation of the ureter saccular terminal, particularly in its portion submucosa. Accompanies ureteral ostium obstruction resulting in difficulty to transit urinary bladder. We distinguish shapes orthotopic, affecting the distal segment of a ureter and are normally mellow characteristics of the adult forms and ectopic or childhood, affecting the final stretch of the ureter with outlet the latter in the cervicouretrale, gravity undoubtedly increased because of the size that can reach with possible effects on the urinary tract high. This variety is often associated with duplicity ureteropelvic with upper district, often atrophic, which continues with the ureter interested dall'ureterocele.

The wall consists of ureterocele outside from inside the bladder mucosa and mucosa ureteral, sometimes with interposition of muscle fibers. Of fairly frequent observation is bilateral in 20-25% of cases and more frequent in females where often associated bifidità ureteropelvic. So, while the adult forms have little clinical significance, the ureterocele involves ectopic kidney function and, when bilateral, may induce renal failure overt. The symptoms are varied: some forms are latent and then discovered occasionally, other induce pain and recurrent infections sometimes with hematuria. In other cases are the signs of renal failure to show up first. The therapy is abstention in small ureteroceli asymptomatic and surgery (endoscopic or transvesical) to Depending on the type and severity of the case.

Megacystis

Condition poorly known, more frequent in females. The bladder is large, with walls thin and without urinary obstruction. The patient's urine a few times in the 24 hours, without dysuria or residual significant. The symptomatology is attributable to the presence of vesicoureteral reflux with consequent recurrent episodes of urinary infection. The urodynamic study demonstrates a hypotonic bladder with high capacity. Urography candemonstrate a high urinary tract more or less affected, depending on the extent of reflux. The treatment consists in milder cases in a reeducation bladder (frequent urination - every 2-3 hours – or catheterization "intermittently"). In severe cases may be indicated partial cystectomy. In some cases, you can associate with megacystis Megaureter with bilateral reflux and aplasia anterior bladder wall (syndrome of "prune belly", prune-belly syndrome). Congenital bladder diverticula, and vesicoureteral reflux Relatively frequent observation, the congenital bladder diverticula cause urinary infection relapsing. Diagnosis is made by radiocistografia and cystoscopy. The therapy is surgical (excision and plastic bladder). The vesicoureteral reflux consists in countercurrent reflux of urine upstream of the bladder. It is symptom of a failure vescicosfinterica, more frequent in children in relation to immaturity of neuromuscular structures.

Stand out:

-         Reflux primary (or idiopathic): the disease is attributable to a situation that affects the malformation trine bladder with ureteral orifices ectopic superolateral and shortening intramural tract. May be associated with abnormalities of the urinary tract superior (duplication ureteropelvic outlet with ectopic ureter, where reflux affects only the upper district).

-         Reflux secondary may be due to cervical-urethral obstruction, disectasia bladder neck, valves and

urethral stricture, neurogenic bladder lesions, abnormal detrusor and chronic inflammatory lesions. In relation to the amount of reflux and alteration on the upper tract, distinguish various degrees: The partial; The total without alterations calyceal; III with total dilation ureterovaginal pielo-caliciale moderate; IV with total dilation ureteropielo- caliciale marked. From a clinical reflux is expressed with recurrent urinary infections with possible kidney damage

in relation to the evolution and cistopielitica pielonefritica process. The radiourografia can appear normal in many cases; this can sometimes be rather modest expansion ureter terminal or the entire urinary tract with high indirect signs of chronic impairment parenchyma. The voiding cystography, especially that seriata being controlled with urination retrograde cystourethrography, allows us to ensure the reflux and evaluate exactly features. Surgical therapy involves the uretero-cistoneostomia (UCN) with replanting and antireflux technique or, more simply different ways of antireflux plastic.

Bladder exstrophy

Rare developmental abnormality of the bladder (1 per 5000 births), more frequent in males. The bladder, missing of its front wall, is eversa and open the urethra and form a shower in continuation with the plan bladder. Is associated with an abnormality of the basin with diastasis of pubic bones. from the point etiopathogenetic terms, is a variant of dysplasia in cloacal membrane. in the forms minor occurs isolated epispadias without exstrophy. In the most severe forms can have cleft Bladder estrofica intestine (cloacal exstrophy). The evolution is attributable to insufficient renal chronic pyelonephritis. Not great cancerization plaque bladder. The symptoms, as well as showing the characteristic appearance of the abdominal wall, shows urinary incontinence ureteral ostia, localized in the lower portion of the bladder estrofica. Surgical therapy is intended to eliminate incontinence, remove the bladder and create a estrofica neoserbatoio urinary efficient. This objective can be achieved either by plastic reconstructive bladder and through the urinary diversion with orthotopic neobladder continent.

Stenosis of the bladder neck

It is a condition secondary to neurogenic bladder disorders or congenital. It shows intense dysuria, abdominal pain, recurrent urinary infections, and weak urinary stream discontinuous. It can get complicated with vesicoureteral reflux. The diagnosis is cistografica or radiourografica or urodynamics. Treatment consists of surgical or endoscopic unblocking. Malformations of the penis and urethra The penis and urethra in men and the urethra in women may be congenitally absent. Rare anomalies are represented by double penis, congenital penile curvature or malrotation, from Microphallus from congenital urethral strictures and duplication of the urethra.

-         Hypospadias: the external urethral meatus opens in the male more proximally than normal. We distinguish a balanica hypospadias, penile, penoscrotale, perineal. Is usually associated with a ventral curvature of the penis to the presence of a "rope" fibrous along the course of the body cancellous and sometimes a ventral opening of the foreskin. May be present or impotentia coeundi generandi. Surgical therapy, to be implemented in preschool, is the removal of the fibrous rope urethral reconstruction in one or two times.

-         Epispadias: is related to a lack of fusion dorsal urethra. May be associated with exstrophy bladder. Surgical therapy involves the reconstruction of the urethra.

-         Urethral valves: can be observed in both sexes but are more frequent in males in relation to the length of the urethra (prostatic urethra). They cause obstructions and can be complicated by kidney failure. Symptoms shows mitto thin and irregular, Overflow incontinence, recurrent urinary infections. The diagnosis and cistouretrografica Endoscopic (cystourethroscopy). Surgical therapy of choice is endoscopic transurethral.

-         Phimosis: stenosis of the skin of the foreskin. It can be congenital or acquired in relation to situations Local inflammatory or metabolic diseases (diabetes mellitus). Surgical therapy consists of the circumcision.

-         Paraphimosis: inability to extend the glans the foreskin retracted earlier. Requires a reduction in surgical emergency (circumcision incision with exhaust back). Malformations of the testicle and scrotum The scrotum may have developmental abnormalities unilateral (emiscroto) or bilateral, associated or not cryptorchidism. Observation of rare hemangiomas scrotal ranging however removed early so as to avoid spreading. The transposition of exceptional observation penile scrotum front.

-         Cryptorchidism: defining an ectopic testis outside the normal site. There incomplete testicular descent in prenatal defines cryptorchidism; in these cases the hormonal function is usually normal, although it is indicated the liberation early surgical waves prevent alterations of spermatogenesis or the risk of neoplastic evolution.

       Stand out:

-         True cryptorchidism, in which the testes remain in the abdominal cavity or in the retroperitoneum relationship to hormonal abnormalities (rare) mechanical (brevity of the pedicle, abnormal insertion of gubernaculum, anatomical obstacles to the descent in the channel). It goes usually indirect inguinal hernia;

-         The descent incomplete, where the testis is located in the inguinal canal in relation to the presence of obstacles mechanical;

-         Ectopic testis located outside the normal way (in front of the pubis, perineum or within the thigh);

-         Testis mobile testicle into the scrotum but shrink in the inguinal canal. The true cryptorchidism, bilateral can be treated with chorionic gonadotropin dose of 500 - 1000 IU intramuscularly for 2-3 times a week or with LHRH analogues administered intranasally (Cryptocur). The hormonal treatment leads in some cases to the descent of testicle. Surgical therapy, to be made after an attempt to medical therapy, consists in Orchidopexy and Plastic hernia. It is still important to state that the delay in the implementation of the project (no more than 2-3 years) can impair spermatogenesis in adulthood but above exposes widely risk carcinomatous. The testicle Mobile normalizes usually spontaneously at puberty.

-         Testicular torsion: testicular torsion on its pedicle, spontaneous or after exertion. May be related to incomplete or incorrect insertion of the insertion of the epididymis mesorchio. The symptomatology is in intense pain, nausea, vomiting, local edema and fever. the diagnosis differential should be paid with testicular tumors, trauma or acute inflammation. Surgical therapy is mandatory as the only chance to save the testicle.