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To evaluate the course of prenatally diagnosed and early-enrolled congenital solitary functioning kidney patients followed until adulthood and to identify risk factors for kidney injury.Among all congenital solitary functioning kidney patients followed (1993-2018), we recalled 56 patients with prenatal diagnosis and congenital solitary functioning kidney confirmation at 1-3 months of life reaching at least 18 years of age. Serum uric acid, heavy smoking (≥25 cigarettes/day) and overweight/obesity were clustered as modifiable risk factors. Kidney injury was defined by estimated glomerular filtration rate90 ml/minute/1.73 mThe mean followup period was 21.1 years (range 18-33 years). Mild kidney injury was found in 15 out of 56 patients (26.8%). The mean age at proteinuria, reduced estimated glomerular filtration rate and hypertension onset was 19.7 years (1.2 SDS), 20.7 years (2.7 SDS), and 22 years (5.6 SDS), respectively. Patients with CAKUT of congenital solitary functioning kidney and with both CAKUT of congenital solitary functioning kidney and modifiable risk factors presented survival free from kidney injury of 0% at 22.2 and 24.2 years of age, respectively. Patients with modifiable risk factors presented 42.4% of survival at 30 years. Patients without CAKUT of congenital solitary functioning kidney nor modifiable risk factors presented 100% of survival at 30 years of age (p=0.002). The presence of CAKUT of congenital solitary functioning kidney was the only significant risk factor (HR 4.9; 95% CI 1.8-14.2; p=0.003).The outcomes of congenital solitary functioning kidney in early adulthood appear better than previously reported. Prompt diagnosis of congenital solitary functioning kidney, healthy lifestyle promotion and monitoring of serum uric acid may improve the prognosis of congenital solitary functioning kidney patients.

Rationale & Objective: The objective of this study is to evaluate the effect of body mass index (BMI) on estimated glomerular filtration rate (eGFR) levels in children with congenital solitary kidney (CSK). Moreover, we evaluated if other factors could influence this relationship. Study Design: Multicenter cross-sectional study. Setting & Participants: University hospital pediatrics departments. Subjects: Two hundred eighty-one patients with CSK. Predictors: Weight, height, BMI-SDS (standard deviation score), duration of overweight/obesity, pubertal stage, systolic (SBP) and diastolic (DBP) blood pressure, eGFR, and renal ultrasound were obtained at the last follow-up visit. The population was classified on the basis of nutritional status and divided in tertiles for duration of overweight/obesity. We compared eGFR levels among these categories. A simple regression was used to correlate eGFR with BMI-SDS. To evaluate if other factors could influence the relationship between eGFR and BMI-SDS, a general linear model was performed, including gender, birth weight

Aim: This study assessed the prevalence of wrongly diagnosed non-febrile urinary tract infections in patients who had not been toilet trained and presented with poor feeding and, or, failure to thrive. The diagnostic value of these signs in predicting non-febrile UTIs was also explored. Methods: We focused on 59 outpatients (56.7% male) with these criteria, who had positive urine cultures and were referred to our Italian University hospital from January 2017 to January 2019. None were on antibiotics and all underwent urine cultures by bladder catheterisation. Wrongly diagnosed non-febrile UTIs were defined by sterile urine cultures. The predictive value was evaluated using logistic regression. Results: The mean age was 8.5±5.7months and 72.9% had wrongly diagnosed non-febrile UTIs. Poor feeding was significantly higher among the 16 patients with true non-febrile UTIs (P=.04). It was significantly predictive of non-febrile UTIs (odds ratio 4.1, 95% confidence interval 1.1-16.6), especially when leucocyturia was present (odds ratio 9.7, 95% confidence interval 2.3-40.7). Conclusion: Wrongly diagnosed non-febrile UTIs were high in children with poor feeding and, or, failure to thrive. Only poor feeding and, in particular, the combination of poor feeding and leucocyturia, significantly increased the odds of non-febrile UTI.

BACKGROUND In paediatric patients with complicated nephrotic syndrome (NS), rituximab (RTX) administration can induce persistent IgG hypogammaglobulinemia among subjects showing low basal immunoglobulin G (IgG) levels. AIM To evaluate the effect of RTX on IgG levels and infections in patients with complicated NS and normal basal IgG levels. METHODS We consecutively enrolled all patients with complicated NS and normal basal IgG levels undergoing the first RTX infusion from January 2008 to January 2016. Basal IgG levels were dosed after 6 wk of absent proteinuria and with a maximal interval of 3 mo before RTX infusion. The primary outcome was the onset of IgG hypogammaglobulinemia during the follow-up according to the IgG normal values for age [mean ± standard deviation (SD)]. RESULTS We enrolled 20 patients with mean age at NS diagnosis of 4.2 ± 3.3 years. The mean age at the first RTX infusion was 10.9 ± 3.5 years. Eleven out of twenty patients (55%) developed IgG hypogammaglobulinemia. None of these patients showed severe or recurrent infections. Only one patient suffered from recurrent acute otitis media and underwent substitutive IgG infusion. Three patients undergoing only the two "starting doses" experienced normalization of IgG levels. Using Kaplan-Meier analysis, the cumulative proportion of patients free of IgG hypogammaglobulinemia was 57.8% after the first RTX dose, 51.5% after the third dose, 44.1% after the fourth dose, and 35.5% after the fifth dose. CONCLUSION RTX can induce IgG hypogammaglobulinemia in patients with pre-RTX IgG normal values. None of the treated patients showed severe infections.

Background: Vesicoureteral reflux (VUR) may be associated with renal dysplasia and reduced renal length (RL). The diagnosis of VUR in children with congenital solitary functioning kidney (CSFK) identifies patients at risk of kidney injury but exposes to invasive procedures. Objective: We aimed to test the hypothesis that an RL >2 standard deviation score (SDS) in the first months of life – reflecting renal hyperplasia – could identify CSFK patients with lower probability of presenting VUR. Method: We retrospectively selected 207 CSFK patients with prenatal diagnosis of CSFK and having undergone renal ultrasound (RUS) both at 0–3 and 10–13 months of life, renal scintigraphy, and cystourethrography/cysto­scintigraphy. We compared the cumulative proportion of an RL >2 SDS by Kaplan-Meier analysis and evaluated the odds to present VUR of patients with an RL >2 SDS both at the first and second RUS. Results: Overall, 3.3% of patients with VUR and 22.0% of patients without VUR presented an RL >2 SDS at the first RUS (p = 0.02). At the second RUS, 53.3% of patients with VUR and 52.5% of patients without VUR presented an RL >2 SDS (p = 0.93). Patients without VUR presented higher cumulative proportion of an RL >2 SDS at 3 months of life than those with VUR (p = 0.02). This difference however disappeared at 11 and 13 months of age (p = 0.17 and p = 0.54, respectively). An RL >2 SDS within 3 months of life presented an OR for VUR of 0.12 (95% CI: 0.02–0.92; p = 0.005), while an RL >2 SDS at 12 months of life presented an OR for VUR of 0.96 (95% CI: 0.45–2.1; p = 0.93). Conclusion: Only an RUS made in the first months of life could identify CSFK patients at lower risk of presenting an associated VUR.

Nephrogenic diabetes insipidus (NDI) is a rare tubulopathy characterized by urinary concentration defect due to renal resistance to vasopressin. Loss-of-function mutations of vasopressin V2 receptor (V2R) gene (AVPR2) is the most common cause of the disease. We have identified five novel mutations L86P, R113Q, C192S, M272R, and W323_I324insR from NDI-affected patients. Functional characterization of these mutants revealed that R113Q and C192S were normally localized at the basolateral membrane of polarized Madin-Darby Canine Kidney (MDCK) cells and presented proper glycosylation maturation. On the other side, L86P, M272R, and W323_I324insR mutants were retained in endoplasmic reticulum and exhibited immature glycosylation and considerably reduced stability. All five mutants were resistant to administration of vasopressin analogues as evaluated by defective response in cAMP release. In order to rescue the function of the mutated V2R, we tested VX-809, sildenafil citrate, ibuprofen and tolvaptan in MDCK cells. Among these, tolvaptan was effective in rescuing the function of M272R mutation, by both allowing proper glycosylation maturation, membrane sorting and response to dDAVP. These results show an important proof of concept for the use of tolvaptan in patients affected by M272R mutation of V2R causing NDI.

BACKGROUND: This article aimed to evaluate the outcome of laparoscopic vascular hitch (VH) as an effective alternative to dismembered pyeloplasty in the treatment of children with extrinsic ureteropelvic junction obstruction (UPJO) by crossing vessels (CVs), by reporting the experience of three Italian centers of Pediatric Surgery. METHODS: From 2006 to 2014, 54 children (18 girls and 36 boys, average age 10.7 years) affected by suspected extrinsic UPJO by CV were treated in three different institutions: 51 patients underwent laparoscopic VH, while 3 patients, in which a coexisting intrinsic etiology of UPJO was doubtful, underwent laparoscopic dismembered pyeloplasty. Preoperative diagnostic workup included: ultrasound (US)/Doppler scan, mercaptoacetyltriglycine (MAG3)-renal scan, and functional-magnetic-resonance-urography (fMRU). Symptoms at presentation were recurrent abdominal/flank pain and hematuria. All patients presented intermittent hydronephrosis (range 18-100 mm) on US and an obstructive pattern on MAG3 renogram. RESULTS: Average operative time was 108 minutes, and average hospital stay was 1.8 days. As for complications, we reported a small abdominal wall hematoma and a high UPJ distortion without obstruction in 2 patients, not requiring reintervention (grade I Clavien-Dindo). At follow-up (range 12-96 months), all patients reported resolution of symptoms, decrease in the hydronephrosis grade, and improved drainage on MAG3 renogram. CONCLUSIONS: Our results demonstrated the safety and efficacy of laparoscopic VH for treatment of extrinsic UPJO by CV, registering excellent outcomes in a very selected patient population. The careful selection of patients through intraoperative assessment of anatomical and functional aspects is a crucial step to confirm indications for VH and maintain a high success rate with the procedure. We believe that any concerns regarding the coexistence of intrinsic stenosis should certainly lead to opening the collecting system and to performing a classic dismembered pyeloplasty.

Background When the permeability of the glomerular filtration barrier increases, leading to proteinuria, nephrotic syndrome (NS) occurs. First episodes or relapses of NS can be concurrent with acute gastroenteritis (AGE) infections. This condition can cause further deterioration of the hypovolemic state, as intravascular water is lost through both AGE-related vomiting/diarrhea and NS-related fluid shifting into the interstitium. In this case report, we wish to raise the issues about the difficult management of children presenting with both NS and AGE. Case Report We report two cases characterized by concurrence of NS and AGE. Despite our intervention, case #1 required dialysis, whereas in the case #2 we restored the patient's liquid homeostasis. Why Should an Emergency Physician Be Aware of This? No guidelines helping general physicians in the management of children presenting with both NS and AGE are available in the literature. However, it is common for these patients to seek the first line of treatment at emergency departments. In these patients, restoring the liquid homeostasis is a challenge, but some key points can help the physicians with first-line management: 1) carefully evaluate the signs of hypovolemia (edematous state can be misleading); 2) bear in mind that—in hypovolemic, severely hypoalbuminemic (serum albumin levelsÂ

Patients affected by nephrogenic diabetes insipidus (NDI) can present with hypernatremic dehydration, and first-line rehydration schemes are completely different from those largely applied in usual conditions determining a mild to severe hypovolemic dehydration/shock. In reporting the case of a patient affected by NDI and presenting with severe dehydration triggered by acute pharyngotonsillitis and vomiting, we want to underline the difficulties in managing this condition. Restoring the free-water plasma amount in patients affected by NDI may not be easy, but some key points can help in the first line management of these patients: (1) hypernatremic dehydration should always be suspected; (2) even in presence of severe dehydration, skin turgor may be normal and therefore the skinfold recoll should not be considered in the dehydration assessment; (3) decreased thirst is an important red flag for dehydration; (4) if an incontinent patient with NDI appears to be dehydrated, it is important to place the urethral catheter to accurately measure urine output and to be guided in parenteral fluid administration; (5) if the intravenous route is necessary, the more appropriate fluid replenishment is 5% dextrose in water with an infusion rate that should slightly exceed the urine output; (6) the 0.9% NaCl solution (10 mL/kg) should only be used to restore the volemia in a shocked NDI patient; and (7) it could be useful to stop indomethacin administration until complete restoration of hydration status to avoid a possible worsening of a potential prerenal acute renal failure.

Antibiotics are often used to prevent post-catheterization urinary tract infections (UTIs) in patients undergoing cystography. However, there is no universally accepted protocol and the literature data are conflicting. We aimed to determine prevalence and risk factors of post-cystography UTIs in non-toilet-trained children. We retrospectively evaluated 216 non-toilet-trained children not assuming antibiotics when undergoing cystography. Only the patients with dilated vesico-ureteral reflux (VUR) assumed antibiotics just after the exam (within 15 min). One hundred eleven patients without vesico-ureteral reflux (VUR) and 29 patients with non-dilated VUR did not receive post-procedure antibiotics and did not develop UTIs. Out of the 76 patients who showed a dilated VUR and received post-procedure antibiotics, only 5 (6.6%) developed a UTI. The most significant factor associated with post-cystography UTIs was the presence of dilated VUR (p = 0.005) with the presence of bilateral VUR also being significant (p = 0.02).Conclusion: Patients without dilated VUR or bilateral VUR could not benefit from antibiotic prophylaxis for cystography. What is Known: • There is no universally accepted protocol about antibiotic administration in children undergoing cystography. • Literature data are conflicting. What is New: • Among 216 non-toilet-trained children undergoing cystography, 111 patients without vesico-ureteral reflux (VUR) and 29 patients with non-dilated VUR did not receive post-procedure antibiotics and did not develop UTIs. Out of the 76 patients who showed a dilated VUR and received post-procedure antibiotics, only 5 (6.6%) developed a UTI. • The most significant factor associated to post-cystography UTIs was the presence of dilated VUR (p = 0.005) with presence of bilateral VUR also being significant (p = 0.02).

Summary Introduction Bladder ultrasound is becoming pivotal in the management and treatment of lower urinary tract dysfunction. There is a paucity of data regarding intra-observer and interobserver reliability of bladder ultrasound, especially in children. A previous study assessed interobserver agreement for both the postvoid residual volume and measurement of the bladder dimensions in adults showing excellent agreement. Objective To examine the interobserver and intra-observer reliability of bladder wall thickness, bladder urinary and postvoid residual urinary volume using ultrasound evaluated by paediatricians having different training levels. Study design Four sonographers, 3 pediatric trainees and one experienced pediatric urologist measured the full bladder volume, the voiding residual volume, and the bladder wall thickness. Each sonographer made 3 measurements of each parameter. We assessed the interobserver and intra-observer variability by using intraclass correlations (ICCs). ICCs were calculated and tested with a significance level of 5%. The interrater ICC was calculated from the mean of the three measurements of each variable (full bladder volume, postvoid residual, bladder wall thickness). ICC ≥0.75 was considered excellent. Bland-Altman plots were also used to assess the interobserver agreement. Results Sixty children were recruited (7.3 ± 1.1 years). The interobserver ICCs for bladder volume and voiding residual volume were 0.91 (confidence interval 0.85–0.95) for both. The interobserver ICCs for the bladder wall thickness was satisfactory 0.43, with a minimum detectable difference of 2 mm. The observed values for intra-observer analysis showed an excellent (ICC ≥ 0.90) agreement between the three measurements performed by each one of the sonographers. Bland-Altman plots showed that the bias (mean difference) was −0.35 and the limits of agreement were −3.43 and 2.73 for the bladder wall thickness measurements (Figure). Discussion The interobserver reliability for both the postvoid residual volume and full bladder volume were excellent even in operators with different levels of training, pointing out the role of bladder ultrasound in the routine clinical practice. Weaker agreement was found for the bladder wall thickness measurement. The intra-observer agreement was excellent for all the measurements. Conclusion These results showed a good reliability of urinary bladder ultrasound in children aged 7.3 ± 1.1 years as far as bladder volume measurement is concerned. Given the variability of bladder wall thickness, a standardized methodology is desirable to increase its reliability.

The transmembrane 6 superfamily member 2 (TM6SF2) E167K polymorphism influences estimated glomerular filtration rate (eGFR) in adults without diabetes and without obesity. We aimed exploring the impact of this polymorphism on eGFR in children with obesity with and without non-alcoholic fatty liver disease (NAFLD). We genotyped 531 children with obesity for TM6SF2 E167K polymorphism. NAFLD was defined by ultrasound detected liver steatosis and/or ALT > 40 IU/L. Patients carrying the TM6SF2 167K allele showed higher eGFR levels compared with E167 homozygous patients both among subjects with and without NAFLD. A general linear model confirmed a direct and significant association of eGFR values with TM6SF2 genotype both in patients with and without NAFLD. This association, however, was stronger in patients with NAFLD. Children with obesity carrying the TM6SF2 167K allele show higher eGFR levels compared with E167 allele homozygous subjects, independently of NAFLD. A major effect of this polymorphism in the presence of NAFLD was captured.

Background: To evaluate sensitivity, specificity, and positive and negative predictive values (PPV and NPV, respectively) of renal ultrasonography (US) in predicting renal uptake defects or reduced renal function at Tc-99m dimercaptosuccinic acid (DMSA) scan (primary outcome). We also evaluated which factors could be associated with Tc-99m DMSA renal scan anomalies. Methods: We retrospectively included all the patients with vesico-ureteral reflux (VUR) undergoing the first Tc-99m DMSA renal scan within 3 months from the most recent renal US between 2016 and 2018. Results: Sensitivity, specificity, PPV, and NPV of US in predicting abnormal Tc-99m DMSA scan were 38.9%, 91.5%, 71.9%, and 72.9%, respectively. Different length between the kidneys, expressed as standard deviation score (SDS), showed an area under the receiver operating characteristic curve of 0.70 (95% CI, 0.60–0.80; p < 0.0001) when evaluated as predictor of abnormal Tc-99m DMSA scan. A different length between the two kidneys >1.11 SDS had 91.5% sensitivity and 57.6% specificity. At multivariate analysis, the factors with significantly increased odds ratio of abnormal Tc-99m DMSA scan were difference in length between two kidneys >1.11 SDS and dilated VUR. Conclusions: The Tc-99m DMSA scan remains the gold standard to detect renal parenchymal anomalies. A different length between the kidneys >1.11 SDS and dilated VUR are predictors of abnormal Tc-99m DMSA renal scan.

Background In our clinical practice we observed that –differently from patients with defined glomerulopathies– children with persistent isolated microscopic hematuria (PImH) usually shows at dipstick on first compared with second morning voiding lower degree of hematuria. We hypothesized that comparison of hematuria degree between first and second morning voiding (dipstick comparison test) could help in selection of patients needing of specific investigations. In this study, we aimed preliminarily validating our hypothesis. Methods To define the risk of active glomerulopathies we used patients with defined glomerulopathies as cases. We prospectively enrolled 103 children during a one-year period. Sixty-nine of them had PImH, 16 microscopic/macroscopic hematuria (mMH), and 18 defined glomerulopathies. Inclusion criteria were: 1) persistent microscopic hematuria (≥1+ at dipstick) with or without defined glomerulopathy and/or previous episodes of macroscopic hematuria; 2) for the patients without defined glomerulopathy, having made regular biannual follow-up visits for at least 2 years in our department; 3) normal renal function and blood pressure at enrollment visit. We compared hematuria degree between first and second morning voiding. Possible findings were absence (NH), less degree (LH), similar degree (SH), and higher degree (HH) of hematuria in the first compared with second voiding. Results At dipstick comparison test, 27.2% of patients presented NH, 44.7% LH, 28.1% SH, and none HH. NH showed specificity and PPV of 100% and significant area under receiver operating characteristic curve (AUROC = 0.66; 95%CI:0.55–0.78; p = 0.03) for absence of defined glomerulopathies. LH showed better sensitivity (76.9% Vs 33%) and NPV (78.9% Vs 24%) and lower specificity (88.2% Vs 100%) and PPV (87.0% Vs 100%) than NH for absence of defined glomerulopathies. Moreover, the LH showed a non-significant AUROC curve for presence of defined glomerulopathies. SH showed specificity of 80%, NPV of 91.9% and significant AUROC curve for presence of defined glomerulopathies (0.67; 95%CI:0.55–0.80; p = 0.009). The ROC curve analysis examining the delta of hematuria degree comparing first with second morning urine voiding showed a significant AUROC curve (AUROC = 0.78; 95%CI,0.68–0.89; p = 0.0002) with delta ≤ 1 showing the best sensitivity (80%) and specificity (66.7%) for defined glomerulopathies. None of the patients with defined glomerulopathies presented NH. Having SH presented relative risk for defined glomerulopathy of 5.1 (95%CI:1.9–13.6; p = 0.0007). Conversely, taken together NH and LH the RR was 0.2 (95%CI 0.1–0.5; p = 0.0007). Interpretations The dipstick on the first urine voiding underestimates the hematuria in about 70% of patients. The dipstick comparison test might easily screen patients with PImH and mMH needing of further investigations and treatment.

Background: PNPLA3 I148M polymorphism has an effect on modulation of estimated glomerular filtration rate (eGFR) in nonobese nondiabetic adults and in children with histologically confirmed nonalcoholic fatty liver disease (NAFLD). Objectives: The objective of the study is to explore the impact of PNPLA3 I148M polymorphism on eGFR in children with obesity with and without NAFLD. Methods: We genotyped 591 patients with obesity for PNPLA3 I148M polymorphism. Anthropometrical, biochemical, and instrumental data were collected. NAFLD was defined by the presence of ultrasound-detected liver steatosis and/or ALT levels greater than 40 IU/L. Results: Patients with NAFLD showed significantly lower eGFR levels compared with subjects without NAFLD. Children with PNPLA3 MM genotype showed lower eGFR levels compared with those with either PNPLA3 IM or II genotypes both in the presence and absence of NAFLD. A general linear model for eGFR variance, including gender, duration of obesity, PNPLA3 genotypes, HOMA, BMI-SDS, LDL-C, and triglycerides as covariates, confirmed an inverse association between eGFR and PNPLA3 genotype only in the presence of NAFLD. Conclusions: Children with obesity and PNPLA3 MM genotype show lower eGFR levels compared with other genotypes, with a major effect of this polymorphism in the presence of NAFLD.

Aim Our aim was to update the recommendations for the diagnosis, treatment and follow‐up of the first febrile urinary tract infection in young children, which were endorsed in 2012 by the Italian Society of Pediatric Nephrology. Methods The Italian recommendations were revised on the basis of a review of the literature published from 2012 to October 2018. We also carried out an ad hoc evaluation of the risk factors to identify children with high‐grade vesicoureteral reflux or renal scarring, which were published in the previous recommendations. When evidence was not available, the working group held extensive discussions, during various meetings and through email exchanges. Results Four major modifications have been introduced. The method for collecting urine for culture and its interpretation has been re‐evaluated. We have reformulated the algorithm that guides clinical decisions to proceed with voiding cystourethrography. The suggested antibiotics have been revised, and we have recommended further restrictions of the use of antibiotic prophylaxis. Conclusion These updated recommendations have now been endorsed by the Italian Society of Pediatric Nephrology and the Italian Society for Pediatric Infectivology. They can also be used to compare other recommendations that are available, as a worldwide consensus in this area is still lacking.

We evaluated, both in toilet-trained and not-toilet-trained children, the impact of cleaning the genital area with plain water on the false positive rate at urine dipstick, and evaluated which factors could be associated to falsely positive findings. We prospectively enrolled 612 patients consecutively attending our nephro-urological outpatient clinic. Firstly, we performed urine dipsticks on urine samples collected from patients whose genital area had not been cleaned before. Then we collected a second sample from the patients with positive urine dipstick, after their genital area had been cleaned with plain water. The urine dipstick was considered falsely positive if we documented its normalization at urine dipstick made on the urine sample collected after cleaning the genital area. We found a falsely positive urine dipstick in 25.5% of the patients, and more in detail in 22.9% of the not-toilet-trained children, and in 26.6% of the toilet-trained children (p = 0.37). The only factors leading to a significant increased RR to have a false positive were non-retractable foreskin (RR = 4.38; 95% CI, 2.15–8.9; p = 0.0001) and female gender (RR = 2.47; 95% CI, 1.77–3.44; p < 0.0001). Conclusion: Cleaning the genital area with plain water should always be performed before collecting urine samples, even if only a urine dipstick without culture is needed.What is Known:• Cleaning the genital area reduces the urine bacterial contamination rate in populations of toilet-trained pediatric patients.• There are no studies assessing the impact of cleaning the genital area on the quality of the urine dipstick, nor on which factors could affect the urine dipstick findings.What is New:• Falsely positive urine dipstick was found in 25.5% of the 612 prospectively enrolled toilet-trained and not-toilet-trained children.• Non-retractable foreskin and female gender significantly increases the relative risk of falsely positive urine dipsticks.

To compare the outcome of laparoscopic and retroperitoneoscopic approach for partial nephrectomy in infants and children with duplex kidneys. Data of 102 patients underwent partial nephrectomy in a 5-year period using MIS procedures were analyzed. Fifty-two children underwent laparoscopic partial nephrectomy (LPN), and 50 children underwent retroperitoneoscopic partial nephrectomy (RPN). Median age at surgery was 4.2 years. Statistical analysis was performed using χ 2 test and Student’s t test. The overall complications rate was significantly higher after RPN (15/50, 30 %) than after LPN (10/52, 19 %) [χ 2 = 0.05]. In LPN group, complications [4 urinomas, 2 symptomatic refluxing distal ureteral stumps (RDUS) and 4 urinary leakages] were conservatively managed. In RPN group, complications (6 urinomas, 8 RDUS, 1 opening of remaining calyxes) required a re-operation in 2 patients. In both groups no conversion to open surgery was reported. Operative time (LPN:166.2 min vs RPN: 255 min; p

Objective: We aimed to investigate which clinical and metabolic factors could influence the estimated glomerular filtration rate (eGFR) levels, evaluating a large population of obese children without suspect of primary kidney disease. Design: Retrospective, cross-sectional study. Setting: Pediatric university department. Subjects: We enrolled 2,957 obese children and adolescents consecutively attending our department between January 2000 and 2017. Inclusion criteria were body mass index (BMI) > 95th percentile and eGFR > 90 mL/min/1.73 m2. Exclusion criteria were secondary forms of obesity, eGFR < 90 mL/min/1.73 m2, proteinuria/hematuria at urine dipstick, or consumption of any medication. Interventions: Weight, waist circumference, height, waist to height ratio (W/Hr), BMI-standard deviation score (SDS), pubertal stage, systolic blood pressure (SBP) and diastolic blood pressure (DBP), duration of obesity, insulin, eGFR, and homeostasis model assessment (HOMA-IR) were obtained. A general linear model was performed for a multiple variable analysis. Main Outcome Measure: The population was divided in tertiles for BMI-SDS, W/Hr, SBP- and DBP-SDS, HOMA-IR, and duration of obesity. We compared eGFR levels among these tertiles. Results: The eGFR levels significantly increased across both BMI-SDS and W/Hr tertiles. Conversely the eGFR levels significantly decreased across SBP-SDS, HOMA-IR, and duration of obesity tertiles. No significant differences in eGFR levels across DBP-SDS tertiles were detected. Pubertal patients presented significantly lower eGFR values compared with prepubertal patients. A general linear model for eGFR variance including as covariates W/Hr, HOMA-IR, duration of obesity, pubertal stage, BMI-SDS, and SBP-SDS (model R239.7%; model P < .00001) was performed. It confirmed a direct association of eGFR values with BMI-SDS and an indirect association with HOMA-IR, duration of obesity, pubertal stage, and SBP-SDS. Conclusions: We showed a positive correlation of eGFR with both BMI-SDS and a negative one with SBP-SDS, HOMA-IR, pubertal stage, and duration of obesity. The duration of obesity was the variable most significantly associated to eGFR levels.

Frequently, general pediatricians could face a patient with syncope, which represents approximately 1% to 3% of emergency visits. Micturition syncope is a transient loss of consciousness with onset immediately before, during, or after micturition. Literature evidence indicates that healthy young men are a population with major risk for presenting micturition syncope, with a peak of incidence around 40 to 50 years of age. Usually, this syncope occurs in the morning, after wake-up, or, more generally, when the male patients assume the orthostatic position after a period of supine position in a warm bed. No information on micturition syncope clinical presentation and prevalence in childhood is available in the literature, and probably, this kind of syncope is unrecognized in childhood. We describe 4 unreported pediatric patients with a diagnosis of micturition syncope and well-defined clinical presentation. In all patients, the syncope has been presented in the same conditions: In the morning; after wake-up; in an orthostatic position; just before, after, or during urinary bladder voiding; and with spontaneous recovery in few minutes. Interestingly, 1 patient presented with the syncope during urinary bladder voiding by autocatheterization. In our patients, all investigations made as the first approach in the pediatric emergency department did not show any abnormal results, possibly underlying the syncope episodes. By describing our experience, we want to underline the clinical presentation of micturition syncope and give to the clinicians the elements to recognize and manage it easily in children.

Purpose This multicentric international retrospective study aimed to report the outcome of robot-assisted extravesical ureteral reimplantation (REVUR) in patients with unilateral vesico-ureteral reflux (VUR). Methods The medical records of 55 patients (35 girls, 20 boys) underwent REVUR in four international centers of pediatric robotic surgery for primary unilateral VUR were retrospectively reviewed. Patients’ average age was 4.9 years. The preoperative grade of reflux was III in 12.7%, IV in 47.3% and V in 40%. Twenty-six patients (47.3%) presented a loss of renal function preoperatively and 10 (18.1%) had a duplex system. Results Average robot docking time was 16.2 min (range 5–30). Average total operative time was 92.2 min (range 50–170). No conversions or intra-operative complications were recorded. All patients had a bladder Foley catheter for 24 h post-operatively. Average hospital stay was 2 days (range 1–3). Average follow-up length was 28 months (range 9–60). We recorded three (5.4%) postoperative complications: 1 small urinoma resolved spontaneously (II Clavien) and 2 persistent reflux, only one requiring redo-surgery using endoscopic injection (IIIb Clavien). Conclusion REVUR is a safe and effective technique for treatment of primary unilateral VUR. The procedure is easy and fast to perform thanks to the 6° of freedom of robotic arms. The learning curve is short and it is useful to begin the robotics experience with a surgeon expert in robotic surgery as proctor on the 2nd robot console. The high cost and the diameter of instruments remain the main challenges of robotics applications in pediatric urology. Keywords Vesico-ureteral reflux · Robot · Lich-Gregoire procedure · Children · Proctor

Summary Introduction Since standardization of the ICCS terminology, only two small case series of children with extraordinary daytime only urinary frequency (EDOUF) have been published. The aims of the present study were i) to describe a large cohort of children affected by EDOUF, to evaluate its rate among the main micturition pediatric disturbances, and to determine if there is different EDOUF onset among seasons; ii) to investigate possible associations with urodynamic abnormalities by non-invasive techniques; iii) to evaluate whether postponing micturition exercise (PME) can objectively verify the anamnestic data hinting at the EDOUF diagnosis; and iv) to determine the effect of postponing micturition at home. Material and methods We reviewed the records of all patients with EDOUF, nocturnal enuresis, and/or overactive bladder firstly examined from March 2012 to February 2016. We evaluated post-void residual and bladder wall thickness by urinary ultrasound and uroflowmetry and recorded the season in which the EDOUF started. Through the PME, the EDOUF diagnosis was confirmed if patients were able to postpone micturition reaching at least 80% of the expected bladder capacity without showing urinary incontinence. At home, we recommended postponing micturition for a maximum of 3 h if EDOUF affected the normal daily activities of both children and parents. We set a telephone interview for 3 months later. Results The clinical characteristics of the EDOUF population are shown in the Table. The EDOUF rate was 12.1%. The rate of EDOUF onset was significantly lower during the summer than in other seasons (p = 0.02) and the OR for onset of EDOUF in the summer – compared with the other seasons – was 0.37 (95% CI 0.18–0.74; p = 0.005). Eighty-five (80.2%) patients reported an intermittent trend of the EDOUF with variable periods of improvement and worsening. All the EDOUF patients had normal uroflowmetry, 1/106 had post-micturition bladder wall thickness >5 mm and one post-void residual. At the PME, 106 out of 106 (100%) patients with EDOUF were able to reach at least 80% of the EBC without showing urinary incontinence or urgency incontinence. After 3 months, in 98.1% of the patients the symptoms had disappeared or improved. Discussion and conclusions Childhood EDOUF is rather common and is generally associated with normal non-invasive urodynamic patterns. The PME allows verification of anamnestic data of EDOUF. The sole recommendation to postpone micturition for a maximum of 3 h or until the micturition postponement became stressful could be considered as a possible approach. Table . Clinical characteristics of the 106 patients with EDOUF. Age at EDOUF diagnosis, yr 6.8 ± 2.3 Female sex, no. (%) 53 (50) SBP, SDS 0.31 ± 0.7 DBP, SDS 0.17 ± 0.8 Age at continence, yr 2.3 ± 0.5 Nocturia, no. (%) 1 (0.9) Constipation, no. (%) 19 (17.4) Urgency, no. (%) 0 (0) Incontinence, no. (%) 0 (0) EBC >80% at PME, no. (%) 106 (100) Post-micturition bladder wall thickness >5 mm, no. (%) 1 (0.9) Presence of post-void residual, no. (%) 1 (0.9) a Maximum flow, mL/s 19.34 ± 10.2 Normal uroflowmetry, no. (%) 106 (100) Normal urinalysis, no. (%) 106 (100) Previous UTIs, % 2 (1.9) b Daily micturitions, no. 20.1 ± 7.2 Mean daily voided volumes (% of the EBC) 28.7 ± 9.2 Data are given as means ± SDS, unless stated otherwise. DBP, diastolic blood pressure; EBC, expected bladder capacity; EDOUF, extraordinary daytime only urinary frequency; PME, postponing micturition exercise; SBP, systolic blood pressure; SDS, standard deviation score; UTI, urinary tract infection. a Only one patient presented a post-void residual of 30 mL. b All the UTIs were not febrile.

Purpose: We evaluated the clinical course of patients prenatally diagnosed and enrolled early with congenital solitary functioning kidney, and identified the risk factors for renal injury. Materials and Methods: We retrospectively evaluated 322 patients with congenital solitary functioning kidney according to the inclusion criteria of 1) prenatal diagnosis of solitary kidney; 2) first evaluation at 1 to 3 months of life with confirmation of congenital solitary functioning kidney, and evaluation of possible associated congenital anomalies of the kidney and urinary tract by abdominal ultrasound, renal scintigraphy and cystography; and 3) absence of any condition potentially affecting renal function in the neonatal period as well as absence of renal injury at enrollment (1 to 3 months of life) confirmed by a normal estimated glomerular filtration rate, lack of proteinuria and hypertension. Followup of 306 patients was evaluated. Results: Median followup was 7.2 years (range 1 to 23) and 1 or more signs of renal injury were found in 12 of 306 patients (3.9%). Considering the entire population the cumulative proportion of patients free from renal injury at 17 years old was 93.7%, vs 81.3% and 95.9% for subjects with and those without congenital anomalies of the kidney and urinary tract of congenital solitary functioning kidney (p

Background: Congenital hydronephrosis due to intrinsic or extrinsic uretero-pelvic-junction (UPJ) obstruction (UPJO) is a common problem in childhood UPJO may be caused by intrinsic disorganization or by extrinsic compression from crossing vessels (CV); extrinsic causes usually present symptomatically in older children. This report the large Italian experience in the treatment of children with extrinsic-UPJO by CV. Methods: We analyzed the data of 51 children (17 girls and 34 boys, median age 10, 7 years) affected by extrinsic-UPJO were treated in three Italian institutions with laparoscopic transposition of CV (Hellstrom Vascular Hitch modified by Chapman).The intraoperative diuretic-test was performed in all patients before and after the vessels transpositions confirming the extrinsic-UPJO. We included in the study only patients with suspicion of vascular extrinsic obstruction of the UPJ. Symptoms at presentation were recurrent abdominal/flank pain and haematuria. All patients presented intermittent ultrasound (US) detection of hydronephrosis (range: 18–100 mm). Preoperative diagnostic studies included: US/doppler scan, MAG3-renogram, functional-magnetic-resonance-urography (fMRU). Results: Median operative time was 108 minutes; median hospital stay: 3, 4 days. Unique complications: a small abdominal wall hematoma and higher junction-translocation without obstruction. During follow-up (range: 12–96 months) all patients reported resolution of their symptoms, a decrease in the hydronephrosis grade and improved drainage on diuretic renogram. Conclusions: We believe that Vascular Hitch is less technically demanding than laparoscopic pyeloplasty, resulting in a lower complication rate and a significantly reduced hospitalization. The results of our study allow us to conclude that laparoscopic VH may be a safe, feasible, and attractive alternative to treat obstructed hydronephrosis due to CV presenting a useful alternative to AHDP in the management of symptomatic children where CV are deemed the sole aetiology. We recommend careful patient selection based on preoperative clinical and radiologic findings that are diagnostic of extrinsic-UPJO, combined with intraoperative-DT to confirm the appropriate selection of corrective procedure.

Factitious disorders are characterized by physical or psychological symptoms that are intentionally produced or feigned in order to assume the sick role. “Munchausen’s syndrome” is one of these disorders and often is under-recognized or only suspected after unnecessary investigations. We report the case of a 15-year-old boy who came to our notice because of reduced urine output and recurrent abdominal pain during the previous 3 months. The patient attended several emergency room visits and he had been hospitalized for 1 month in an adult internal medicine department because of “oliguria”. He had undergone several invasive investigations with normal results before the diagnosis of Munchausen’s syndrome was made. General pediatricians and practitioners should be aware that suspecting Munchausen’s syndrome in the first instance in the management of a patient showing discrepancies between reported urinary symptoms and the detectable clinical signs could avoid unnecessary and invasive exams.

Background. Lowe syndrome (LS) and Dent-2 disease (DD2) are disorders associated with mutations in the OCRL gene and characterized by progressive chronic kidney disease (CKD). Here, we aimed to investigate the long-term renal outcome and identify potential determinants of CKD and its progression in children with these tubulopathies. Methods. Retrospective analyses were conducted of clinical and genetic data in a cohort of 106 boys (LS: 88 and DD2: 18). For genotype-phenotype analysis, we grouped mutations according to their type and localization. To investigate progression of CKD we used survival analysis by Kaplan-Meier method using stage 3 CKD as the end-point. Results. Median estimated glomerular filtration rate (eGFR) was lower in the LS group compared with DD2 (58.8 versus 87.4 mL/min/1.73 m2, P < 0.01). CKD stage II-V was found in 82% of patients, of these 58% and 28% had moderate-to-severe CKD in LS and DD2, respectively. Three patients (3%), all with LS, developed stage 5 of CKD. Survival analysis showed that LS was also associated with a faster CKD progression than DD2 (P < 0.01). On multivariate analysis, eGFR was dependent only on age (b0.46, P < 0.001). Localization, but not type of mutations, tended to correlate with eGFR. There was also no significant association between presence of nephrocalcinosis, hypercalciuria, proteinuria and number of adverse clinical events and CKD. Conclusions. CKD is commonly found in children with OCRL mutations. CKD progression was strongly related to the underlying diagnosis but did not associate with clinical parameters, such as nephrocalcinosis or proteinuria.

Background: Cornelia de Lange syndrome is the prototype for cohesinopathy disorders, which are characterized by defects in chromosome segregation. Kidney malformations, including nephrogenic rests, are common in Cornelia de Lange syndrome. Only one post-mortem case report has described an association between Wilms tumor and Cornelia de Lange syndrome. Here, we describe the first case of a living child with both diseases. Case presentation: Non-anaplastic triphasic nephroblastoma was diagnosed in a patient carrying a not yet reported mutation in NIPBL (c.4920 G > A). The patient had the typical facial appearance and intellectual disability associated with Cornelia de Lange syndrome in absence of limb involvement. The child's kidneys were examined by ultrasound at 2 years of age to exclude kidney abnormalities associated with the syndrome. She underwent pre-operative chemotherapy and nephrectomy. Seven months later she was healthy and without residual detectable disease. Conclusion: The previous report of such co-occurrence, together with our report and previous reports of nephrogenic rests, led us to wonder if there may be any causal relationship between these two rare entities. The wingless/integrated (Wnt) pathway, which is implicated in kidney development, is constitutively activated in approximately 15-20 % of all non-anaplastic Wilms tumors. Interestingly, the Wnt pathway was recently found to be perturbed in a zebrafish model of Cornelia de Lange syndrome. Mutations in cohesin complex genes and regulators have also been identified in several types of cancers. On the other hand, there is no clear evidence of an increased risk of cancer in Cornelia de Lange syndrome, and no other similar cases have been published since the fist one reported by Cohen, and this prompts to think Wilms tumor and Cornelia de Lange syndrome occurred together in our patient by chance.

Summary Background Most children with symptoms of urolithiasis and urinary solute excretion abnormalities leading to stone formation have no calculi revealed by ultrasound or X-ray plain film (“occult urolithiasis”). This covers a large group of children presenting with common symptoms such as abdominal pain, hematuria, and dysuria, often faced by general practitioners and pediatricians. However, half or more of children with urolithiasis could present with abdominal/flank pain without specific urinary symptoms. Study design We review the current evidence about prevalence, clinical presentation, and radiological detection of overt and “occult” urolithiasis in children, aiming to give readers the instruments to suspect and diagnose urolithiasis while avoiding cost-ineffective and undue diagnostic procedures. Conclusions It is important to investigate for urolithiasis first by ultrasound and, in specific cases, by urinary metabolic and different imaging studies in the following groups: 1) in children with non-glomerular hematuria or/and dysuria not presenting inflammation of external genitalia; 2) in children with acute/sub-acute or infrequent recurrent abdominal pain and family history of urolithiasis in first or second degree relatives or being at higher risk of developing stones although hematuria and dysuria are lacking; 3) in children under 8 years old, even though pain is central or diffuse to the whole abdomen; and 4) in children presenting risk factors or conditions predisposing to urolithiasis. Finally, it seems reasonable to repeat ultrasound 1–2 years later also in children with “occult” urolithiasis and high risk of developing stones to detect any (re-)appearance of calculi.

We report the recommendations for the diagnosis, treatment, imaging evaluation and use of antibiotic prophylaxis in children with the first febrile urinary tract infection, aged 2 months to 3 years. They were prepared by a working group of the Italian Society of Pediatric Nephrology after careful review of the available literature and a consensus decision, when clear evidence was not available. Conclusion: These recommendations are endorsed by the Italian Society of Pediatric Nephrology. They can also be a tool of comparison with other existing guidelines in issues in which much controversy still exists.

Objective To estimate dietary protein intake in children with idiopathic hypercalciuria (HC) and/or hyperuricosuria (HU). Patients and methods We compared the 24-h urinary excretion of urea, as a reflection of protein intake, in four age- and sex-matched groups, each comprising 56 consecutive children: (1) HC, (2) HU, (3) HC + HU and (4) control. Results Urinary urea excretion was significantly higher in HC, HU and HC + HU than in controls. HC and HU children had similar urea excretion. HC + HU children had urinary urea significantly higher than HC and HU, but urinary calcium similar to HC and urinary uric acid excretion similar to HU subjects. Urinary calcium was significantly (R2 = 0.21) correlated with urea excretion in HC children only, whereas urinary uric acid was significantly (R2 = 0.21) correlated with urinary urea in HU children only. No significant correlation between urinary urea and calcium or uric acid excretion was found in HC + HU patients although they had the highest urinary urea. A significant (p = 0.004) interaction between urinary urea and sodium in increasing urinary calcium excretion resulted only in the HC group. Conclusion The association of dietary protein excess with HC and/or HU is conditioned by an individual (genetic?) predisposition and may be produced by different mechanisms.

Vesicoureteral reflux (VUR) is the most common disease of the urinary tract in children. In order to identify gene(s) involved in this complex disorder, we performed a genome-wide search in a selected sample of 31 patients with primary VUR from eight families originating from southern Italy. Sixteen additional families with 41 patients were included in a second stage. Nonparametric, affected-only linkage analysis identified four genomic areas on chromosomes 1, 3, and 4 (p < 0.05); the best result corresponded to the D3S3681-D3S1569 interval on chromosome 3 (nonparametric linkage score, NPL = 2.75, p = 0.008). This region was then saturated with 26 additional markers, tested in the complete group of 72 patients from 24 families (NPL = 2.01, p = 0.01). We identified a genomic area on 3q22.2-23, where 26 patients from six multiplex families shared overlapping haplotypes. However, we did not find evidence for a common ancestral haplotype. The region on chromosome 1 was delimited to 1p36.2-34.3 (D1S228-D1S255, max. NPL = 1.70, p = 0.03), after additional fine typing. Furthermore, on chromosome 22q11.22-12.3, patients from a single family showed excess allele sharing (NPL = 3.35, p = 0.015). Only the chromosome 3q region has been previously reported in the single genome-wide screening available for primary VUR. Our results suggest the presence of several novel loci for primary VUR, giving further evidence for the genetic heterogeneity of this disorder.

BACKGROUND: Two main techniques are adopted to perform partial nephrectomy in children: laparoscopy and retroperitoneoscopy. The aim of this paper is to review the larger multicentric experience recently published by our group to review indications, techniques and results of both approaches. METHODS: Data of 102 patients underwent partial nephrectomy in a 5-year period using minimally invasive surgery (MIS) procedures were analyzed. Fifty-two children underwent laparoscopic partial nephrectomy (LPN), and 50 children underwent retroperitoneoscopic partial nephrectomy (RPN). Median age at surgery was 4.2 years. Statistical analysis was performed using χ2 test and Student's t-test. RESULTS: The overall complications rate was significantly higher after RPN (15/50, 30%) than after LPN (10/52, 19%) (χ2 =0.05). In LPN group, complications [4 urinomas, 2 symptomatic refluxing distal ureteral stump (RDUS) and 4 urinary leakages] were conservatively managed. In RPN group, complications (6 urinomas, 8 RDUS, 1 opening of remaining calyxes) required a re-operation in 2 patients. In both groups no conversion to open surgery was reported. Operative time (LPN: 166.2 min vs. RPN: 255 min; P

Recurrent abdominal pains (RAPs) represent a common problem in children sometimes leading to unnecessary and invasive procedures. The rates of appendectomy were evaluated consecutively in 180 children with idiopathic hypercalciuria (HC) and/or hyperuricosuria (HU) and RAPs, and in 270 control subjects. Of the HC/HU patients 10% and of controls 1.5% underwent appendectomy (p0.0001). In 15 out of 18 HC/HU patients appendectomized, RAPs persisted with the same frequency and severity after the operation; 10 out of 18 had dysuria and/or gross hematuria 2 days-12 months after appendectomy. At our first visit, urinalysis was negative for hematuria in 13 out of 18 patients and in eight out of the 10 with a previous history of dysuria or gross hematuria. Pain recurrences resolved or improved in nine out of the 11 patients followed at least 1 year after general or specific therapy for HC/HU. The inconstant association of dysuria and hematuria with RAPs in children with HC/HU may lead to the urological origin of pain being overlooked, and may explain the high rate of appendectomy among these children. The possibility of HC/HU therefore should be taken into account in children with RAPs even when dysuria and hematuria are not present.

Background: An increased spot urine Na/K ratio (UNa/K) has been found to be related to urinary stone disease in adults with a history of nephrolithiasis and in children with idiopathic hypercalciuria (HC). However, the respective role played by Na and K excretion in the rise of the UNa/K in growing individuals is not well clarified. Methods: The urinary excretion of Na and K was evaluated in fasting morning and 24-hour urine samples of 37 consecutive children with HC and of 21 previously HC children who were normocalciuric at the time of the study (ExHC). None of them had received any dietary or specific drug prescription. Results: In the HC and in the ExHC group, respectively, the Na excretion was 4 ± (SD) 2.4 and 2.9 ± 1.3 mmol/kg/day (p = 0.009); the K excretion was 1.1 ± 0.4 and 1.2 ± 0.7 mmol/kg/day (p = 0.86); the fasting UNa/K was 3 ± 1.6 and 2.1 ± 1 mmol/mmol (p = 0.044), and the 24-hour UNa/K was 4.2 ± 3.9 and 2.8 ± 1.5 mmol/ mmol (p = 0.045). The 24-hour UNa/K was significantly higher than the fasting UNa/K in both HC (p = 0.002) and ExHC (p = 0.002) subjects. The 24-hour UNa/K significantly increased with age in both HC (p = 0.02) and ExHC (p = 0.015) children. The K excretion significantly decreased with age in HC (p = 0.0001) and ExHC (p = 0.005) subjects, as well as with body weight gain in HC (p = 0.005) and ExHC (p = 0.0001) children and with increasing body height in HC (p = 0.006) and ExHC (p = 0.001) subjects. In neither group was the K excretion significantly related to body mass index Z score nor to height Z score. No significant relation resulted between Na excretion and age, body weight and height, and body mass index Z score and height Z score. Conclusions: HC children have a higher Na excretion as well as a higher fasting and 24-hour UNa/K than ExHC children, but no different K excretion. Meals are accompanied by a significant rise in UNa/K. The rise in UNa/K with age is mostly due to a decrease in K excretion which possibly depends on childhood body growth.

We distinguished the scintigraphy pattern of congenital reflux nephropathy from that of acquired scarring in children with primary vesicoureteral reflux.We retrospectively evaluated the frequency and pattern of renal scintigraphy abnormalities in 41 patients with prenatally detected primary vesicoureteral reflux and in 322 with a mean age plus or minus standard deviation of 3.6 + or - 1 years in whom primary reflux was detected after urinary tract infection. Dimercapto-succinic acid scintigraphy was performed 4 to 6 and 1 to 4 months after reflux was diagnosed and/or the infection was cured in patients with urinary tract infection and prenatal detection, respectively.We identified 3 patterns of renal damage, including overall decreased uptake of renal radionuclide that was 20% to 40% of relative uptake, focal defects in uptake and shrunken kidney with relative uptake less than 20%. Scintigraphy revealed renal damage in 12 prenatally detected cases of vesicoureteral reflux, including overall decreased uptake in 58% and shrunken kidney in 42%, and in 111 cases of reflux detected at urinary tract infection, including overall decreased uptake in 50%, uptake focal defects in 37% and shrunken kidney in 13%. In the urinary tract infection group overall decreased uptake was present in 25 of 90 boys and in 40 of 232 girls (p = 0.05). Of these children 15% of the girls had uptake focal defects and 17% had overall decreased uptake. Overall decreased uptake and uptake focal defects were significantly more common in kidney-ureter units with reflux grade 4 or greater than in those with grade 3 or less (p = 0. 00001 and 0.027, respectively).When assuming that overall decreased radionuclide uptake indicates congenital reflux nephropathy and uptake focal defects indicate postnatal acquired scarring, congenital reflux nephropathy appears to be an important cause of renal damage in children with primary vesicoureteral reflux even beyond the neonatal age and even in girls. This finding is of interest because postnatally acquired scarring may but congenital reflux nephropathy may not be prevented.

A 6-month-old male infant born by normal vaginal delivery (birth weight 3.150 kg, length 49 cm) and affected by hypospadias underwent renal ultrasound scan (Fig. 1). Expert advice was required after an “uncertain renal US report”. The patient suffered decreased appetite, vomiting, constipation, polyuria and polydipsia during the previous 2 months. At our appointment, we found hypotonia, irritability, failure to thrive, anterior fontanelle 1.5×1 cm, and moderate dehydration. His mother reported that the infant was taking no drugs except prophylaxis with vitamin D (400 IU/day). Serum chemistry was as follows: calcium 18.67 mg/dl (normal range, 8.4–10.2 mg/dl), urea 65 mg/dl (10–50 mg/ dl), creatinine 0.45 mg/dl, phosphorus 5.7 mg/dl, Ca×P 106 mg (normal value

The incidence of urolithiasis in children has been steadily increasing in developed countries mainly due to changes in dietary habits. The occurrence of symptoms suggestive of urolithiasis in children with urinary solute abnormalities predisposing to stone formation but with normal renal ultrasound and X-ray plain film is approximately 9 times higher than the occurrence of overt stone disease. This discrepancy may depend on several factors, for example: the limited sensitivity of these methods of imaging, the presence of urinary crystals that, while not detectable with imaging, injure bladder epithelium, in addition to imaging studies performed after the passage of calculi giving negative results. Correct technique during urine collection is also essential for diagnosis. Urolithiasis must be suspected in the face of abdominal pain even central or diffuse pain in younger children when there is a positive family history even though specific urinary symptoms such hematuria and dysuria may be lacking.

Background: Maturity onset diabetes of young (MODY) type 5 is a form of non-insulin-dependent diabetes mellitus associated with renal cysts. It is an autosomal dominant disorder caused by mutations in the gene encoding hepatocyte nuclear factor-1beta (HNF-1beta). Methods: We performed molecular screening of HNF-1beta in a 13-year-old patient and his affected father, and analyzed polycystic kidney disease 2 (PKD2) gene and suppressor of cytokine signaling 3 (SOCS3) expression in lymphoblastoid cell lines and lymphocytes from both patients. Results: We found a novel HNF-1beta frameshift mutation (c.C1304del) that results in a truncated protein (p.I434IfsX1). The genetic change is localized in the transactivated protein domain. Conclusions: We demonstrated that this novel HNF-1beta mutation strongly influences the expression of both PKD2, responsible for the formation of the renal cysts, and SOCS3, which is associated with early diabetes onset.

Growth retardation and osteopenia have been reported in some children with idiopathic hypercalciuria (IHC), particularly in those with nephrocalcinosis. The duration of hypercalciuria might be a risk factor for osteopenia. A retrospective longitudinal analysis of statural growth and a cross-sectional evaluation of bone mineral density (BMD) was carried out in 26 IHC children followed for 4-13 years. None of the patients had nephrocalcinosis. Growth, including pubertal growth spurt, was normal in all subjects. BMD Z score less than -1 was recorded in 3 subjects with hyperuricosuria. BMD Z score averaged -0.68+/-0.99 in the 9 subjects with associated hyperuricosuria and 0.21+/-0.64 in the 17 with occasional or no hyperuricosuria ( P=0.018). Our analysis shows that children with long-lasting IHC without nephrocalcinosis have normal growth, but those with associated hyperuricosuria may be at risk for osteopenia.

Innovative approaches are needed for patients with systemic lupus erythematosus (SLE) who develop autoimmune haemolytic anaemia (AIHA) that does not respond to conventional treatment. Rituximab, a chimaeric anti-CD20 monoclonal antibody, has been demonstrated to be highly effective for in vivo B-cell depletion. We report an 18-year-old-girl with SLE and life-threatening AIHA that did not respond to steroids, intravenous immunoglobulin and cyclosporin A. Rituximab was given weekly at 375 mg/m2 for two doses. The drug was well tolerated and the patient had no adverse effects. Her haemolytic disorder markedly ameliorated, with a progressive increase of haemoglobin levels, starting a few days after therapy. The patient remains disease-free 7 months later.