Nephrological and urological symptoms in patients with Robinow syndrome - a report of two cases.

Robinow syndrome is a rare congenital syndrome described in 1969 by Meinhard Robinow. The genetic background is heterogeneous - mutations of DVLI1, DVLI3, WNT5A genes (mild, autosomal dominant inheritance) or ROR2 gene (severe, autosomal recessive inheritance) are responsible for the syndrome. The syndrome is characterized by facial dysmorphism, skeletal defects, short stature, cardiovascular and urinary system abnormalities. CASE REPORT: We report nephrological and urological problems in two 4-year-old male patients with Robinow syndrome. The first patient has a horseshoe kidney located mainly on the right side, right vesicoureteral reflux grade II, dysfunctional voiding, buried penis, and retractile testicles. The second patient has recurrent urinary tract infections; diagnostic findings include left kidney duplication, grade II left vesicoureteral reflux, large posterior urethral diverticulum, dysfunctional voiding, buried penis, glanular hypospadias, and bilateral cryptorchidism. CONCLUSIONS: Patients with Robinow syndrome require multidisciplinary care, including nephrology-urology care. Nephrological and urological manifestations in children with Robinow syndrome are diverse, and urinary tract defects may be atypical and complex.

Pyonephrosis as the first symptom of congenital hydronephrosis in a 6-year old girl.

Pyonephrosis in the course of hydronephrosis usually provides to total or near-total loss of renal function. In adults pyonephrosis usually results from urolithiasis. In children usually congenital urinary tract anomalies are present as contributing factors. CASE REPORT: 6-year old girl was admitted to the hospital because of 2-day history of high fever, abdominal pain, progressive deterioration of general condition and ultrasonographically (US) detected left hydronephrosis. US on admission showed grossly dilated left renal collecting system together with extensive echogenic debris and laboratory tests highly elevated inflammatory markers. Once diagnosis of pyonephrosis was established on the basis of clinical picture and US as well as laboratory tests results, nephrostomy tube was placed percutaneously. Pus culture obtained during placement of nephrostomy showed E.Coli ESBL (-) growth. Intensive antibiotic treatment (Meropenem) was continued for 3 weeks, nephrostomy was removed after 12 days after receiving normal urine. Further evaluation of urinary tract (US and computed tomography urography) showed large hydronephrosis due to ureteropelvic junction obstruction, while dynamic scintigraphy obstructive renogram with grossly diminished left kidney function to 20% of differential renal function. The girl was referred for operative treatment on urgent basis. Intraoperatively long distance utreteropelvic junction stenosis was found and dismembered Anderson- Hynes pyeloplasty was performed. During 2-years follow-up postoperatively US showed gradually decrease of dilatation of left renal collecting system, while dynamic scintigraphy revealed permanent improvement of drainage together with almost normal renal function (up to 45%). No urinary tract infections were noted. CONCLUSIONS: Proper management of pyonephrosis in hydronephrotic kidney due to congenital ureteropelvic junction obstruction enables good final result of treatment.

[Dodatkowa tetnica nerkowa przyczyna skrajnego wodonercza u 5-letniego chlopca]. / Accessory renal artery as a cause of extreme hydronephrosis in 5-year old boy.

Hydronephrosis in children is most often due to an intrinsic ureteropelvic junction obstruction or by compression on ureter by accessory renal artery coming from the aorta to the lower pole of the kidney. AIM: The aim of study was to present a case with a late onset of hydronephrosis caused by accessory renal artery. CASE REPORT: 5-year old boy with a mild pyelectasia during first 10 months of age was admitted to hospital because of abdominal pain and vomiting. Abdominal ultrasound revealed a marked dilatation of the right pelvicalyceal system with renal pelvis measuring 23 mm in anterior-posterior (ap) diameter, enlargement of calyces to 10 mm and narrowed cortex to 5 mm. Dynamic scintigraphy (99mTc-EC) showed right-sided hydronephrosis with decreased isotope intake up to 31%, prolonged time of tissue perfusion and signs of ureteropelvic junction obstruction. Computed tomography urography with vascular option revealed right kidney length of 116 mm with narrow cortex, and dilated renal pelvis up to 53x52x28 (ap) mm and dilated calyces up to 16 mm. Apart from dilated collecting system, the computed tomography showed two renal arteries: normal artery coming from the aorta at the L1 level and the accessory renal artery, which originated from the aorta to the lower pole of the kidney at the L2/L3 level. The accessory renal artery compressed on the ureter causing hydronephrosis. The pyeloplasty modo Hynes-Anderson was performed. After 3 months an abdominal ultrasound revealed the right kidney of 89 mm in length with only moderate hydronephrosis: dilatation of renal pelvis up to 15-18 mm and calyces up to 7-8 mm. Scintigraphy showed isotope intake 48%. CONCLUSIONS: Hydronephrosis caused by accessory renal artery can be asymptomatic, with mild dilatation of pyelocalyceal system seen on abdominal ultrasonography. The first clinical symptoms may occur after several years and be associated with large hydronephrosis.

[Congenital megacalycosis in a girl with unilateral renal agenesis]. / Wrodzone kielichonercze u dziewczynki z jednostronna agenezja nerki.

Renal agenesis occurs in pediatric population with the incidence 1:500- 2000 children. It is more often diagnosed in boys and on the left side of the body. Renal agenesis may be isolated or it may be a part of complex malformation syndrome. Megacalycosis is a very rare anomaly of urinary tract associated with abnormal structure of the kidney pyramids. AIM: The aim of the study was to present for the first time in the medical literature the case of a girl with unilateral renal agenesis and megacalycosis. CASE REPORT: A girl, born at term in good general medical condition, and with normal birth weight was admitted to the hospital because of urinary tract infection caused by E.coli. Antenatal abdominal ultrasounds were normal. In a diagnostic, repeated ultrasound studies, unilateral, left renal agenesis and the righ-sided megacalycosis were found. The right kidney had dilated collecting system, with normal size of renal pelvis and enlarged calyces up to 26 mm. The kidney function was normal. Voiding cystourethrography excluded vesicoureteral reflux. Dynamic scintigraphy 99mTc-EC showed the lack of function of the left kidney, postinflammatory changes and dilation of collecting system without signs of obstruction. During two-years follow up we didn't observe clinical relapse of urinary tract infection. Blood pressure and kidney function were normal. CONCLUSIONS: Complex congenital anomalies of the kidney and the urinary tract (CAKUT) can be diagnosed at any age. Normal antenatal abdominal ultrasound does not exclude CAKUT. Every patient with congenital abnormalities of the kidney and the urinary tract requires long-term follow up, because of increased risk of chronic kidney disease.

Testicular necrosis secondary to incarcerated inguinal hernia in male infants. Own observations.

One of the possible consequences of incarcerated inguinal hernia in boys is testicular ischemia because of the prolonged compression of spermatic cord structures by the sac contents, resulting in ipsilateral testicular atrophy. This complication is well described in the literature and occurs in 5-34% of patients. The incidence of testicular atrophy secondary to incarcerated hernia is estimated to be 2-3%. Testicular necrosis as the result of hernia incarceration is, however, an extremely rare clinical setting. We present 4 male infants aged 3-10 weeks with inguinal hernia incarceration which led to ipsilateral testicular loss. All the boys had to be operated on because of irreducible incarcerated hernia and in all the cases testicular necrosis was found intraoperatively. The time of incarceration before surgical intervention ranged from 4 to 12 hours (mean 6.75). Our data show that every case of hernia incarceration in a very young male infant requires rapid diagnosis and proper intervention, i.e. surgical treatment, instead of repeated attempts of manual reduction. Ultrasound examination should estimate not only blood flow through the incarcerated intestinal loop, but also through the ipsilateral testis. Moreover, during the operation of the incarcerated hernia in a boy it is necessary to estimate the ipsilateral testis.

Endoscopic correction of vesicoureteral reflux in children using polyacrylate-polyalcohol copolymer (Vantris): 5-years of prospective follow-up.

INTRODUCTION: The endoscopic correction of vesicoureteral reflux (VUR) in children is a currently well accepted therapy in many pediatric urology centers. Polyacrylate-polyalcohol copolymer (PPC), namely Vantris®, is one of the tissue-augmenting substances used for endoscopic reflux therapy. The aim of this study was to evaluate the results with PPC in children. MATERIAL AND METHODS: From 2012 to 2016, 125 children (73 girls and 52 boys) aged 0.6-17.9 years (mean 4.9 ±3.58) were treated with PPC. VUR was unilateral in 64 and bilateral in 61 patients, comprising 197 renal refluxing units (RRUs) grades: II in 72, III in 50, IV in 33 and V in 42. Of these primary reflux was present in 132 RRUs and 65 were complex cases. Voiding cystourethrogram (VCUG) was done 3 months after procedure. RESULTS: Follow-up was completed in 89.6% of patients (112 children), and 89.8% of RRUs (177 out of 197). Reflux resolved in 86.4% of RRUs after single injection, in 99.4% after second and in 100% after the third. The only significant, but serious complication observed was late ureteral obstruction after PPC injection correcting high grade reflux, which required ureteral re-implantation. This complication was found in 9 out of 112 children (8%), and in 11 out of 177 RRUs (6.2%), 1.1 -2.9 years (mean 2 ±0.7) after the PPC injection. The longest follow-up reaches 4.5 years. CONCLUSIONS: Our data show that the PPC injection is an effective procedure for treating all grades of VUR with high success rate. However, because of the possibility of late ureteral obstruction, which requires ureteroneocystostomy, long-term follow-up is mandatory.

Ultrasonography of Extravaginal Testicular Torsion in Neonates.

BACKGROUND: Extravaginal testicular torsion (ETT), also called prenatal or perinatal, occurs prenatally and is present at birth or appears within the first month of life. It has different etiology than intravaginal torsion, which appears later in life. Testicular torsion must be taken into consideration in differential diagnosis of acute scrotum and should be confirmed or ruled out at first diagnostic step. Ultrasonography is a basic imaging modality, however diagnostic pitfalls are still possible. There is still wide discussion concerning management of ETT, which varies from immediate orchiectomy to conservative treatment resulting in testicle atrophy. MATERIAL/METHODS: In this article we present ultrasonographic spectrum of ETT in neonates, which were diagnosed and treated in our hospital during the last 8 years (2008-2015), in correlation with clinical and intraoperative findings. RESULTS: Thirteen neonates with ETT were enrolled in the study - 11 patients with a single testicle affected and 2 patients with bilateral testicular torsion. Most common signs on clinical examination were: hardened and enlarged testicle and discoloration of the scrotum. Most common ultrasonographic signs were: abnormal size or echostructure of the affected testicle and absence of the blood flow in Doppler ultrasonography. In 3 patients ultrasound elastography was performed, which appeared very useful in testicle structure assessment. CONCLUSIONS: Testicular torsion may concern boys even in the perinatal period. Ultrasonographic picture of acute scrotum in young boys may be confused. Coexistence of the abnormal size or echostructure of the torsed testicle with absence of the blood flow in Doppler ultrasonography appear as very specific but late ultrasonographic sings. Ultrasound elastography may be a very useful tool for visualisation of a very common clinical sign - hardening of the necrotic testicle.

Comparison of results of endoscopic correction of vesicoureteral reflux in children using two bulking substances: Dextranomer/hyaluronic acid copolymer (Deflux) versus polyacrylate-polyalcohol copolymer (Vantris).

BACKGROUND: Endoscopic correction of vesicoureteral reflux (VUR) in children offers minimally invasive management and is widely used as a first-line procedure for all grades of reflux. However, there is debate about which tissue-augmenting substance is the best to use. The aim of this study was to evaluate the efficacy of two bulking substances, Deflux (Dx/HA) and Vantris (PPC), for endoscopic treatment of VUR in children. METHODS: From 2009 to 2012, 65 children (50 girls and 15 boys) aged 1.45-9.9 years (mean 4.85 ± 2.52) underwent endoscopic correction of VUR using Deflux. VUR was unilateral in 31 patients and bilateral in 34 patients, comprising 108 renal refluxing units (RRUs) grades: II in 52, III in 47, IV in 7, and V in 2. From 2012, 68 children (43 girls and 25 boys) aged 0.6-17.9 years (mean 4.89 ± 3.46) were treated with Vantris. VUR was unilateral in 33 and bilateral in 35 patients, comprising 109 RRUs grades: II in 48, III in 29, IV in 13, and V in 19. Voiding cystourethrogram was done 3 months after procedure. RESULTS: All patients completed follow-up (summary Table). With Deflux, reflux resolved in almost 93% of RRUs after two procedures (in 63% after first injection), with Vantris, VUR was corrected in the same percentage after one procedure. DISCUSSION: The success rate with Deflux ranges between 68% and 92% (only 50-70% after single injection). The reported possibility of reflux recurrence after successful Deflux treatment, and the need for repeated injection led to introduction of the new substance Vantris. The results of a multi-centre survey published in 2014 showed that reflux is corrected in more than 90% of cases after single PPC injection. Our results with PPC confirm a high level of reflux resolution. CONCLUSIONS: Our data show that Vantris injection is a safe and effective procedure for treating all grades of VUR with good clinical outcome, and provides a higher and almost complete level of reflux resolution after first injection compared with Deflux.

Extreme hydronephrosis due to uretropelvic junction obstruction in infant (case report).

BACKGROUND: Hydronephrosis is the one of the most common congenital abnormalities of urinary tract. The left kidney is more commonly affected than the right side and is more common in males. AIM OF THE STUDY: To determine the role of ultrasonography, renal dynamic scintigraphy and lowerdose computed tomography urography in preoperative diagnostic workup of infant with extreme hydronephrosis. CASE REPORT: We presented the boy with antenatally diagnosed hydronephrosis. In serial, postnatal ultrasonography, renal scintigraphy and computed tomography urography we observed slightly declining function in the dilated kidney and increasing pelvic dilatation. Pyeloplasty was performed at the age of four months with good result. CONCLUSIONS: Results of ultrasonography and renal dynamic scintigraphy in child with extreme hydronephrosis can be difficult to asses, therefore before the surgical procedure a lower-dose computed tomography urography should be performed.

Calyceal diverticulum of the kidney - diagnostic imaging dilemma in pediatric patients - case report.

BACKGROUND: Calyceal diverticula are rarely diagnosed in children. They can mimic other renal cystic lesions and correct diagnosis can be difficult to establish. Connection between fluid collection and collecting system confirmed by imaging studies is the key diagnostic finding. CASE REPORT: In this report we present a case of pediatric patient with calyceal diverticulum, with initial ultrasonographic diagnosis of simple renal cyst. Final diagnosis was established after extended diagnostics following infection of a fluid collection. CONCLUSIONS: 1. Differential diagnosis of well-circumscribed solitary renal fluid collections in children should include particularly: simple cyst, calyceal diverticulum and the first demonstration of ADPKD. 2. Diagnosis of calyceal diverticulum should be confirmed by contrast studies. 3. Standard management of calyceal diverticula in children includes ultrasonographic follow-up and conservative treatment and rarely requires surgical intervention.

Adrenal abscess in a 3-week-old neonate - a case report.

The authors present a case of a 6-year-old boy operated on in the 4th week of life because of adrenal abscess. The diagnosis of an adrenal abscess in the neonatal period is challenging due to its rare occurrence and non-specific signs. Adrenal abscesses can develop via two mechanisms: as a result of a hematogenic infection and a spread of bacteria to "normal" adrenal glands or, which is much more common, a complication of an adrenal hematoma. Early and accurate diagnosis is crucial for appropriate therapeutic management. Imaging, including ultrasound, can be problematic. The final diagnosis is frequently established on the basis of a histological examination of a surgical specimen.

Ectopic ureter, renal dysplasia, and recurrent epididymitis in an infant: case report and review of the literature.

KEY CLINICAL MESSAGE: The most common etiologies of acute scrotum in boys <1 year of age are torsion of the testis or an appendix, urogenital anomalies, and epididymitis. We report an infant with recurrent epididymitis associated with single-system ectopic ureter opening into the seminal vesicle and dysplastic right kidney. Treatment included nephroureterectomy.

Lower-dose CT urography (CTU) with iterative reconstruction technique in children - initial experience and examination protocol.

BACKGROUND: Conventional X-ray urography is one of the basic imaging techniques in urinary tract diseases in children. CT urography (CTU) employing standard Filtered Back Projection (FBP) reconstruction algorithms is connected with higher radiation dose. Advanced iterative reconstruction techniques enable lowering the radiation dose to the level comparable with conventional X-ray urography with better visualization of the urinary tract. Study protocol and indications for this modified technique should be discussed. MATERIAL/METHODS: Introduction of iterative image reconstruction techniques allowed to significantly reduce the radiation dose delivered during examinations performed at our Department, including CT examinations of urinary tract in children. During the last two years, CT urography replaced conventional X-ray urography and became the basic imaging technique in our Department. We discuss the study protocol regarding pediatric CTU examinations. The main goal is to receive an optimal image quality at reduced radiation dose. RESULTS: CTU examinations performed using the standard filtered back projection (FBP) reconstruction technique are associated with radiation doses about 1.5 times higher than those in conventional X-ray urography. Implementation of iterative reconstruction algorithms in advanced CT scanners allow to reduce the radiation dose to a level comparable or even lower than that in X-ray urography. In addition, urinary tract can be evaluated more precisely in multiplanar reformatted (MPR) and volume rendered (VR) images. CONCLUSIONS: 1. Advanced iterative reconstruction techniques allow to reduce radiation dose in CT examinations and to extend indications for CT urography in children. 2. Urinary tract can be evaluated more precisely in multiplanar reformatted and volume rendered images. 3. CTU may replace conventional X-ray urography in children.

Usefulness of lower-dose computed tomography urography with iterative reconstruction technique in diagnosis of congenital anomalies in urinary tract in children.

Introduction of iterative reconstruction technique in modern computed tomography allowed to reduce the radiation dose and to extend indications for computed tomography urography in children. We describe the case of boy with congenital anomalies in urinary tract including bilateral double collecting system, dilatation of double collecting system in the right kidney and dilatation of lower pelvis in left kidney and bilateral dilatation of ureters. Anomalies were detected in prenatal and then confirmed in postnatal ultrasonography. Voiding cystourethrograhy, which was performed on the 4th day of life revealed grade IV vesicoureteral reflux to the lower part of double collecting system in the right kidney and grade V vesicoureteral reflux to the left kidney. In cystoscopy posterior urethral valves were excluded and presence of double ureters was confirmed. Dynamic scintigraphy (99mTc-EC) detected impaired parenchymal secretory function in the lower pole of left kidney. The patient was qualified for surgical treatment including left lower heminephoureterectomy. Before surgery procedure computed tomography urography was performed and revealed congenital anomalies in urinary tract: bilateral double collecting system, bilateral hydronephrosis of the lower part of kidneys, dilatation of ureters associated with high grade of vesicoureteral refluxes, narrow cortex of left kidney. Computed tomography urography with iterative reconstruction techniques enables precise visualization of urinary tracts with reduced radiation dose. It replaces conventional X-ray urography because of much better visualization of urinary tracts with comparable or even lower radiation dose.