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Background: Little is known about the long-term social and professional outcomes in adults after pediatric kidney replacement therapy (KRT). In this study, we described social and professional outcomes of adults after kidney failure during childhood and compared these outcomes with the general population. Methods: We sent a questionnaire to 143 individuals registered in the Swiss Pediatric Renal Registry (SPRR) with KRT starting before the age of 18 years. In the questionnaire, we assessed social (partner relationship, living situation, having children) and professional (education, employment) outcomes. Logistic regression models adjusted for age at study and sex were used to compare outcomes with a representative sample of the Swiss general population and to identify socio-demographic and clinical characteristics associated with adverse outcomes. Results: Our study included 80 patients (response rate 56%) with a mean age of 39 years (range 19–63). Compared to the general population, study participants were more likely to not have a partner (OR = 3.7, 95%CI 2.3–5.9), live alone (OR = 2.5, 95%CI 1.5–4.1), not have children (OR = 6.8, 95%CI 3.3–14.0), and be unemployed (OR = 3.9, 95%CI 1.8–8.6). No differences were found for educational achievement (p = 0.876). Participants on dialysis at time of study were more often unemployed compared to transplanted participants (OR = 5.0, 95%CI 1.2–21.4) and participants with > 1 kidney transplantation more often had a lower education (OR = 3.2, 95%CI 1.0–10.2). Conclusions: Adults after pediatric kidney failure are at risk to experience adverse social and professional outcomes. Increased awareness among healthcare professionals and additional psycho-social support could contribute to mitigate those risks. [ABSTRACT FROM AUTHOR]

Background: Little is known about health-related quality of life (HRQoL) in adults after kidney failure during childhood. In this study, we analyzed HRQoL of adults after pediatric kidney failure in Switzerland and investigated socio-demographic and clinical factors associated with HRQoL. Methods: In this cohort study, we sent questionnaires to 143 eligible patients registered in the Swiss Pediatric Renal Registry with continuous kidney replacement therapy starting before the age of 18 years. We assessed HRQoL using the Short-Form 36 version 1, compared HRQoL scores between our sample and the Swiss general population, and used linear regression models to examine socio-demographic and clinical factors associated with HRQoL. Results: We included 79 patients (response rate 55%) with a mean age of 38.6 years (range 19.4–63.1). Compared to the general population, HRQoL scores were lower for physical functioning (− 12.43, p < 0.001), role physical (− 13.85, p = 0.001), general health (− 14.42, p < 0.001), vitality (− 4.98, p = 0.035), and physical HRQoL (− 6.11, p < 0.001), but we found no difference in mental HRQoL (− 0.13, p = 0.932). The socio-demographic factors—lower education, unemployment, and not being in a relationship—were associated with lower HRQoL. The only clinical factor associated with HRQoL was the type of kidney disease. Patients with acquired kidney diseases had lower mental HRQoL than patients with congenital anomalies of the kidney and urinary tract (− 11.4, p = 0.007) or monogenetic hereditary diseases (− 9.5, p = 0.018). Conclusions: Adults after pediatric kidney failure in Switzerland have lower physical, but similar mental HRQoL compared to the general population. Subgroups may require special attention with regard to their HRQoL. [ABSTRACT FROM AUTHOR]

The objective of the study was the development of an abridged risk-stratified imaging algorithm for the management of children with unilateral ureteropelvic junction obstruction (UPJO). Data on timing, frequency and duration of diagnostic imaging in children with unilateral UPJO was extracted retrospectively. Based on these findings, an abridged imaging algorithm was developed without changing the intended management by the clinicians and the outcome of the individual patient. The potential reduction of imaging studies was analysed and stratified by risk and management groups. The reduction in imaging studies, seen for ultrasound (US) and functional imaging (FI), was 45% each. On average, this is equivalent to 3 US and 1 FI studies less for every patient within the study period. The change was more pronounced in the low-risk groups. Progression of UPJO never occurred after 2 years of age and all secondary surgeries were carried out until the age of 3.Conclusions: Although our findings need to be validated by further prospective research, the developed imaging algorithm represents a risk-stratified approach towards less imaging studies in children with unilateral UPJO, and a follow-up beyond 3 years of age should be considered only in selected cases at the discretion of the clinician. What is Known: • ultrasound and functional imaging represent an integral part of therapeutic decision-making in children with unilateral ureteropelvic junction obstruction • imaging studies cannot accurately assess which patients are in need of surgical intervention, therefore close, serial imaging is preferred What is New: • a new, risk-stratified imaging algorithm was developed for the first 3 years of life • applying this algorithm could lead to a considerable reduction of imaging studies, and also the associated risks and health-care costs. [ABSTRACT FROM AUTHOR]

Unlabelled: Congenital anomalies of the kidney and urinary tract are common findings on fetal ultrasound. The aim of this prospective observational study was to describe outcome and risk factors in 115 patients born 1995-2001. All prenatally diagnosed children were stratified into low- and high-risk group and followed postnatally clinically and by imaging at defined endpoints. Risk factors were evaluated using odds ratios. Neonatal diagnosis included pelvi-ureteric junction obstruction (n = 33), vesicoureteral reflux (n = 27), solitary mild pelvic dilatation (postnatal anteroposterior diameter 5-10 mm; n = 25), and further diagnosis as primary obstructive megaureter, unilateral multicystic dysplastic kidney, renal dysplasia and posterior urethral valves. In 38 children with prenatal isolated hydronephrosis, ultrasound normalized at median age of 1.2 years (range 0.1-9). Surgery was performed in 34 children at median age of 0.4 years (0.1-10.8). Persistent renal anomalies without surgery were present in 43 children and followed in 36 for median time of 16 years (12.2-18). Oligohydramnios and postnatal bilateral anomalies were significantly associated with surgery and impaired renal function.Conclusion: The majority of children had a favourable postnatal outcome, in particular children with prenatally low risk, i.e. isolated uni- or bilateral hydronephrosis. Oligohydramnios and postnatal bilateral anomalies were risk factors for non-favourable outcome.What Is Known: • In congenital anomalies of the kidney and urinary tract significantly poorer outcome is known in patients with bilateral renal hypoplasia or solitary kidney associated with posterior urethral valves. • Other factors as proteinuria and vesicoureteral reflux were associated with a higher risk of progression to chronic renal failure in these patients. What is New: • Unlike other studies giving us above-mentioned information, we included all patients with any kind of prenatally diagnosed congenital anomalies of the kidney and urinary tract. Our study shows long-term follow up (median 16 years, range 12.2-18 years), especially in patients not needing surgery, but with persistent anomalies. • During postnatal long-term follow up (median 2.2 years, range 0.1-18 years) one third each showed normalization, need of surgery or persistence of anomalies without need of surgery. Our study revealed a good prognosis in the majority of these children, in particular with prenatally low risk, i.e. isolated uni- or bilateral hydronephrosis, and revealed oligohydramnios and postnatal bilateral anomalies as risk factors for a non-favourable outcome, defined as need of surgery, persistent anomalies with impaired renal function, end stage renal failure or death. [ABSTRACT FROM AUTHOR]

Background: Infants with a body weight of less than 10 kg are often not considered to be suitable candidates for renal transplantation (RTx). The objective of this study was to evaluate this arbitrary weight threshold for pediatric RTx.Methods: We conducted a multicenter, retrospective, match-controlled cohort study on infants weighing less than 10 kg at time of engrafting (low-weight group [LWG], n = 38) compared to a matched control group (n = 76) with a body weight of 10-15 kg, using data from the first 2 years post-transplant derived from the CERTAIN Registry.Results: Patient survival was 97 and 100% in the LWG and control groups, respectively (P = 0.33), and death-censored graft survival was 100 and 95% in the LWG and control groups, respectively (P = 0.30). Estimated glomerular filtration rate at 2 years post-transplant was excellent and comparable between the groups (LWG 77.6 ± 34.9 mL/min/1.73 m2; control 74.8 ± 29.1 mL/min/1.73 m2; P = 0.68). The overall incidences of surgery-related complications (LWG 11%, control 23%; P = 0.12) and medical outcome measures (LWG 23%, control 36%, P = 0.17) were not significantly different between the groups. The medical outcome measures included transplant-related viral diseases (LWG 10%, control 21%; P = 0.20), acute rejection episodes (LWG 14%, control 29%; P = 0.092), malignancies (LWG 3%, control 0%; P = 0.33) and arterial hypertension (LWG 73%, control 67%; P = 0.57).Conclusions: These data suggest that RTx in low-weight children is a feasible option, at least in selected centers with appropriate surgical and medical expertise. [ABSTRACT FROM AUTHOR]

Ureteropelvic junction obstruction (UPJO) is the most common obstructive uropathy and its optimal management remains controversial. However, there is a current trend towards non-surgical management. We aimed to determine the effects of the non-surgical management in children with unilateral UPJO. For a systematic review, we searched MEDLINE, EMBASE, CENTRAL, clinical trials registries, and selected conference proceedings for eligible studies. Any type of study reporting the outcomes renal function, secondary surgical intervention, drainage pattern or hydronephrosis of non-surgical management in children with unilateral UPJO was included. Data from 20 studies were extracted and evaluated by two independent authors. The pooled prevalence was 21% for split renal function deterioration, 27.9% for secondary surgical intervention, 3.2% for progressive hydronephrosis, and 82.2% for improved drainage pattern. Not all patients with surgical intervention regained split renal function from enrolment. Renal imaging methods did not strongly correlate with each other. Many studies had to be excluded because of a lack of detection of an obstruction or mixed populations with bilateral UPJO or other uropathies. The variable definitions of UPJO, different criteria for surgical intervention, incongruity of management protocols, and the imprecise reporting of outcomes were limiting factors in the comparability of the results, leading to heterogeneity in meta-analyses. Although the available evidence cannot recommend or refute the current non-surgical management, the systematic review clarifies aspects of the ongoing controversy by providing realistic estimates for non-surgical management in children with unilateral UPJO. Additionally, it reveals unclear potential risks, particularly for long-term outcomes, which were rarely reported. [ABSTRACT FROM AUTHOR]

Background: In children after haemolytic-uraemic syndrome (HUS), little is known about long-term health-related quality of life (HRQoL) and psychological adjustment as defined by behavioural problems, depressive symptoms and post-traumatic stress symptoms. Methods: Sixty-two paediatric patients with a history of HUS were included in this study. Medical data of the acute HUS episode were retrieved retrospectively from hospital records. Data on the clinical course at study investigation were assessed by clinical examination and laboratory evaluation. HRQoL and psychological adjustment data were measured by standardised, parent- and self-reported questionnaires. Results: Haemolytic-uraemic syndrome was diagnosed at a mean of 6.5 years before the initiation of the study (standard deviation 2.9, range 0.1-15.7) years. Among the preschool children, parents reported that their child was less lively and energetic (HRQoL emotional dimension), while no increased behavioural problems were reported. In the school-age children, self- and proxy-reported HRQoL was well within or even above the norms, while increased total behavioural problems were found. The school-age children reported no increased depression scores. Also none of the children met the criteria for full or partial HUS-associated posttraumatic stress disorder. Conclusions: Healthcare providers should be particularly alert to behavioural problems in school-age children with a history of HUS and to lower HRQoL in preschool children. [ABSTRACT FROM AUTHOR]

We report on seven patients with a novel neuroimaging finding that involves exclusively the cerebellar gray matter at the bottom of several fissures of both hemispheres but spares the vermis. The abnormal fissures were predominantly located in the lower and lateral parts of the cerebellar hemispheres. The affected cerebellar cortex was hypointense on T1-weighted and hyperintense on T2-weighted and fluid attenuation inversion recovery sequences. In some patients, the involved cerebellar gray matter was mildly thickened and the affected fissures slightly widened. In three of seven patients, the neuroimaging findings were unchanged on follow-up studies up to 6 years. The seven patients had various indications for the brain magnetic resonance imaging studies, and none of them had cerebellar dysfunction. Based on the similarity of the neuroimaging pattern with the cerebral 'bottom-of-sulcus dysplasia,' we coined the term 'cerebellar bottom-of-fissure dysplasia' to refer to this novel neuroimaging finding. The neuroimaging characteristic as well as the unchanged findings on follow-up favors a stable 'developmental' (malformative) nature. The lack of cerebellar dysfunction in the affected patients suggests that cerebellar bottom-of-fissure dysplasia represents most likely an incidental finding that does not require specific diagnostic investigation but allows a reassuring attitude. [ABSTRACT FROM AUTHOR]

Background: Febrile urinary tract infections (fUTIs) are common after kidney transplantation (KTx); however, prospective data in a multicenter pediatric cohort are lacking. We designed a prospective registry to record data on fUTI before and after pediatric KTx. Methods: Ninety-eight children (58 boys and 40 girls) ≤ 18 years from 14 mid-European centers received a kidney transplant and completed a 2-year follow-up. Results: Posttransplant, 38.7 % of patients had at least one fUTI compared with 21.4 % before KTx ( p = 0.002). Before KTx, fUTI was more frequent in patients with congenital anomalies of kidneys and urinary tract (CAKUT) vs. patients without (38 % vs. 12 %; p = 0.005). After KTx, fUTI were equally frequent in both groups (48.7 % vs. 32.2 %; p = 0.14). First fUTI posttransplant occurred earlier in boys compared with girls: median range 4 vs. 13.5 years ( p = 0.002). Graft function worsened ( p < 0.001) during fUTI, but no difference was recorded after 2 years. At least one recurrence of fUTI was encountered in 58 %. Conclusion: This prospective study confirms a high incidence of fUTI after pediatric KTx, which is not restricted to patients with CAKUT; fUTIs have a negative impact on graft function during the infectious episode but not on 2-year graft outcome. [ABSTRACT FROM AUTHOR]

Background: Little is known about health-related quality of life (HRQoL) and mental health of parents having children with a history of hemolytic uremic syndrome (HUS). Methods: This study included 63 mothers and 58 fathers of a cohort of 63 HUS-affected children. At assessment, the mean time since a child experienced an acute episode of HUS was 6.4 years. Parental HRQoL, mental health and posttraumatic stress disorder (PTSD) were assessed with standardized self-report questionnaires. Medical data were extracted from patients' hospital records. Results: The HRQoL and mental health of both the mothers and fathers were not impaired compared to normative data. However, a shorter time since a child's acute HUS episode was a significant predictor of lower HRQoL among the mothers, while no such effect was found among the fathers. Two fathers (3 %), but no mothers, met the criteria for a diagnosis of HUS-related full PTSD; one father (2 %) and four mothers (6 %) met the criteria for a diagnosis of HUS-related partial PTSD. Conclusions: Our study shows that most parents of our study sample were doing well in terms of HRQoL and mental health, although a small number met the criteria for full or partial PTSD diagnosis due to their child's HUS. We therefore recommend that healthcare providers pay special attention to parents regarding PTSD symptoms during the clinical follow-up of a HUS-affected child since some parents may benefit from psychological support. [ABSTRACT FROM AUTHOR]

Background: The oculocerebrorenal syndrome of Lowe (OCRL) is a rare X-linked multi-systemic disorder, almost always characterized by the triad of congenital cataract, cognitive and behavioral impairment and a proximal tubulopathy. Methods: Twenty-eight novel patients with suspected Lowe syndrome were studied. Results: All patients carried OCRL gene defects with mutational hot spots at CpG dinucleotides. Mutations previously unknown in Lowe syndrome were observed in ten of the 28 patients, and carriership was identified in 30.4 % of the mothers investigated. Mapping the exact breakpoints of a complete OCRL gene deletion revealed involvement of several flanking repeat elements. We noted a similar pattern of documented clinically relevant symptoms, and even though the patient cohort comprised relatively young patients, 32 % of these patients already showed advanced chronic kidney disease. Thrombocytopenia was seen in several patients, and hyperosmia and/or hyperacusis were reported recurrently. A p.Asp523Asn mutation in a Polish patient, associated with the typical cerebrorenal spectrum but with late cataract (10 year), was also evident in two milder affected Italian brothers with ocular involvement of similar progression. Conclusions: We have identified clinical features in 28 patients with suspected Lowe syndrome that had not been recognized in Lowe syndrome prior to our study. We also provide further evidence that OCRL mutations cause a phenotypic continuum with selective and/or time-dependent organ involvement. At least some of these mutants might exhibit a genotype-phenotype correlation. [ABSTRACT FROM AUTHOR]

Background: To investigate the long-term neurodevelopmental outcome in children after hemolytic uremic syndrome (HUS) and to compare outcome dependent on central nervous system (CNS) involvement during HUS. Methods: A single-center retrospective cohort of 47 children was examined at a median age of 10.6 (range 6-16.9) years and a median follow-up of 7.8 (range 0.4-15.3) years after having had HUS. Intellectual performance was assessed with the German version of the Wechsler Intelligence Scale 4th version and neuromotor performance with the Zurich Neuromotor Assessment (ZNA). The occurrence of neurological symptoms during the acute phase of HUS was evaluated retrospectively. Results: Mean IQ of the whole study population fell within the normal range (median full scale IQ 104, range 54-127). Neuromotor performance was significantly poorer in the domains 'adaptive fine,' 'gross motor,' 'static balance' (all p < 0.05) and 'associated movements' ( p < 0.001); only the 'pure motor' domain was within the normal reference range. Neurological findings occurred in 16/47 patients (34 %) during acute HUS. Neurodevelopmental outcome was not significantly different between children with or without CNS involvement. Conclusions: Our follow-up of children after HUS showed a favorable cognitive outcome. However, neuromotor outcome was impaired in all study participants. Neurological impairment during acute HUS was not predictive of outcome. [ABSTRACT FROM AUTHOR]

The spectrum of pathology in native kidney biopsies varies considerably between different countries. Based on similar biopsy policy and joint workup, biopsy data of native kidneys of children in Yerevan (Armenia) and Zurich (Switzerland) were compared over a period of two decades (1993-2002 and 2003-2012). A total of 487 renal biopsies in Yerevan (EVN), n = 253; median age 11.2 years (range 0.8-18; 56 % males) and in Zurich (ZRH), n = 234; median age 8.7 years (range 0.1-18; 61 % males) were analyzed. Biopsies from EVN were locally analyzed by light microscopy (LM) and sent to ZRH for electron microscopy (EM) and immunohistochemistry. Biopsies from ZRH were evaluated by LM, EM, and immunofluorescence. The significant difference concerns the high frequency of amyloidosis in EVN (25.4 % in the first and 19.4 % in the second decade vs. 0 % in ZRH) and of IgA nephropathy in ZRH (30.2 % in the first and 26.1 % in the second decade vs. 8.1 in EVN). Certain forms of glomerulonephritis (membranoproliferative type I and membranous) and primary focal segmental glomerulosclerosis tended to be more frequent in EVN than in ZRH. Amyloid nephropathy due to familial Mediterranean fever is still highly frequent in Armenia with a slight decrease in the second decade. In Switzerland, the most common finding was IgA nephropathy. [ABSTRACT FROM AUTHOR]

Clinical gout has rarely been described after pediatric renal transplantation (RTx), although asymptomatic hyperuricemia is common in these patients. We describe three male pediatric patients who presented with gouty arthritis 7-8.5 years following RTx. Since receiving allopurinol, all patients had been free of gouty symptoms. To prevent severe bone marrow depletion, the dosage of azathioprine, an immunosupressant drug, was reduced by 50% to prevent interaction with allopurinol. Because atypical presentation of gout can occur, a high index of suspicion is needed to allow appropriate diagnosis of this disease in patients with skeletal pain after RTx. [ABSTRACT FROM AUTHOR]

A correction is presented to the article "Health-related quality of life and mental health in parents of children with hemolytic uremic syndrome," by Kathrin Buder and others, published in a previous issue.

Cystinosis is a rare multisystemic progressive disorder mandating lifelong medical treatment. Knowledge on the intellectual and motor functioning, health-related quality of life and psychosocial adjustment in children with cystinosis is limited. We have investigated nine patients (four after renal transplantation) at a median age of 9.7 years (range 5.3–19.9 years). Intellectual performance (IP) was analysed with the Wechsler Intelligence Scale for Children-III (seven children) and the Kaufman Assessment Battery for Children (two children). Motor performance (MP) was evaluated using the Zurich Neuromotor Assessment Test, and quality of life (QOL) was studied by means of the Netherlands Organization for Applied Scientific Research Academical Medical Center Child Quality of Life Questionnaire. Psychosocial adjustment was assessed by the Child Behavior Checklist. The overall intelligence quotient (IQ) of our patient cohort (median 92, range 71–105) was significantly lower than that of the healthy controls ( p = 0.04), with two patients having an IQ < 85. Verbal IQ (93, range 76–118) was significantly higher than performance IQ (90, range 68–97; p = 0.03). The MP was significantly below the norm for pure motor, pegboard and static balance, as well as for movement quality. The patients’ QOL was normal for six of seven dimensions (exception being positive emotions), whereas parents reported significant impairment in positive emotions, autonomy, social and cognitive functions. Significant disturbance was noted in terms of psychosocial adjustment. Based on the results from our small patient cohort, we conclude that intellectual and motor performance, health-related QOL and psychosocial adjustment are significantly impaired in children and adolescents with cystinosis. [ABSTRACT FROM AUTHOR]

Knowledge of health-related quality of life (QOL) and psychosocial adjustment (PA) in children after renal transplantation (RTPL) is limited. QOL and PA were evaluated by standardized tests in patients after RTPL. Thirty-seven children of median age 14.5 years (range 6.5–17 years) were investigated a mean 4.5 years (range 0.5–12.8 years) after RTPL. Child- and parent-rated QOL was evaluated with the Child Quality of life Questionnaire of The Netherlands Organization for Applied Scientific Research Academical Medical Centre (TNO-AZL). PA was assessed by the Child Behaviour Checklist (CBCL) providing parental reports of a child’s behaviour. In patients’ self-ratings, the QOL dimension physical complaints ( P < 0.0005) scored significantly better than that of healthy controls, whereas the dimension positive emotional functioning was impaired ( P = 0.02). Parents rated motor functioning ( P = 0.002), autonomy ( P = 0.01), cognition ( P = 0.04) and positive emotions ( P < 0.0005) as significantly impaired. Parents also assessed PA significantly ( P = 0.02) impaired with regard to internalizing behaviour. Dialysis duration, young age at RTPL, living-related donation, steroid treatment, adverse family relationships and maternal distress had a significantly negative impact on QOL and PA ( P < 0.05). Patients rated QOL higher than did healthy controls. Parents evaluated their children’s QOL and PA more pessimistically than did the patients themselves. Both illness-related variables and family environment played an important role. [ABSTRACT FROM AUTHOR]

Comprehensive information on neurodevelopmental outcome in children and adolescents with chronic kidney disease is still limited. Intellectual performance (IP) and motor performance (MP) were systematically assessed in 27 patients at a median age of 14.1 years (range 6.5–17) and 6 years (range 0.5–12.7) after renal transplantation (RTPL). IP was analyzed with the Wechsler Intelligence Scale for Children-III (WISC-III) in 25 patients and by the Kaufman Assessment Battery for Children in two patients. MP was evaluated by the Zurich Neuromotor Assessment. Median full- scale intelligent quotient (FSIQ) was 97 (range 49–133). Twenty-one patients had an FSIQ ≥ 85 (i.e. ≥ mean–1 standard deviation). The five patients with neurological comorbidity had a median FSIQ of 81 (range 49–101). Verbal IQ (VIQ) (median 104; range 50–146) was significantly ( p < 0.01) higher than performance IQ (PIQ) (median 88; range 48–117). The PIQ was significantly lower compared with controls ( p < 0.007), and patients scored significantly lower compared with controls in five of 11 subtests of the Wechsler Scale. All MP tasks were significantly ( p < 0.01) lower than in controls, and also in children without neurological comorbidity. Socioeconomic status was significantly correlated with FSIQ ( p = 0.03). IP after RTPL was within the normal range for the majority of children. PIQ was lower compared with VIQ, and MP was significantly affected in all children after RTPL. [ABSTRACT FROM AUTHOR]

Steroid withdrawal (SW) after paediatric renal transplantation (RTPL) is controversial. Selective late SW has been performed in our unit since 1995. The safety and effects of SW were analysed retrospectively in 47 patients undergoing RTPL between 1995 and 2004. Initial immunosuppression consisted of cyclosporine A, azathioprine or mycophenolate mofetil and steroids. Criteria for SW were: (1) stable renal function, (2) time interval after RTPL ≥ 1 year, (3) no rejection or time interval after last rejection ≥ 1 year and (4) good compliance. SW was performed in 30 patients at an age of 13.5 years (range 4.5–18.5) and 2.2 years (range 1–6.6) after RTPL. After SW, one patient experienced a steroid-sensitive rejection. Follow-up after SW (1.3 year; range 0.25–7.5) showed maintained renal function: glomerular filtration rate at SW and currently was 82 (65–128) and 82 (42–115) ml/min per 1.73 m2, respectively. The number of patients on antihypertensive treatment did not significantly change (at SW: n = 15; currently: n = 11). Height and body mass index (BMI) remained stable: Median standard deviation score (SDS) for height/BMI at SW and currently was −1.1/0.2 and −0.8/0.1, respectively. Selective late SW was safe regarding renal function and had no significant effect on blood pressure and growth. [ABSTRACT FROM AUTHOR]

We have determined levels of glutathione (GSH), ATP, mitochondrial complex activity and apoptosis rate in proximal tubular cells (PTCs) exfoliated from urine in cystinotic ( n=9) and control ( n=9) children. Intracellular GSH was significantly depleted in cystinotic PTCs compared with controls (6.8 nmol GSH/mg protein vs 11.8 nmol GSH/mg protein; P<0.001), but there were no significant differences in mitochondrial complex activities or ATP levels under basal conditions. Cystinotic PTCs showed significantly increased apoptosis rate. After PTCs had been stressed by hypoxia, there was further depletion of GSH in cystinotic and control PTCs (2.4 nmol GSH/mg protein vs 7.2 nmol GSH/mg protein; P<0.001). Hypoxic stress led to increased complex I and complex IV activities in control but not in cystinotic PTCs. ATP levels were significantly reduced in cystinotic PTCs after hypoxic stress (12.2 nmol/mg protein vs 26.9 nmol/mg protein; P<0.001). GSH depletion occurs in this in vitro model of cystinotic PTCs, is exaggerated by hypoxic stress and may contribute to reduced ATP and failure to increase complex I/IV activities. Apoptotic rate is also increased, and these mechanisms may contribute to cellular dysfunction in cultured, human cystinotic PTCs. [ABSTRACT FROM AUTHOR]

En bloc renal transplantation (EBT) from infant donors is an option for children with end-stage renal failure. Owing to potential complications, EBT is not performed in all paediatric nephrology centres. We evaluated the perioperative and long-term course of five children undergoing EBT. Primary diagnosis was atypical (diarrhoea-negative) haemolytic uraemic syndrome ( n=2), interstitial nephropathy (two siblings) and branchio-oto-renal syndrome ( n=1). Recipient and donor ages ranged between 5.9 and 11.1 years and 0.3 and 2.5 years, respectively. Follow-up time after EBT was 2.1–13.2 years. Perioperative complications included (1) a renal artery thrombosis, with immediate intraoperative reconstruction and primary non-functioning of the graft, with recovery after 10 days, and (2) a vesico-ureteric obstruction, successfully managed with temporary insertion of a JJ-catheter. All grafts had good long-term function. Absolute glomerular filtration rate (GFR; millilitres/minute) increased in all patients, whereas relative GFR (millilitres/minute per 1.73 m2 body surface area) remained stable during the follow-up period in all but one. Kidney size increased significantly, with maximal growth during the first year after EBT; magnetic resonance imaging (MRI) showed normal structure and vasculature. EBT is a safe and effective option for young children with end-stage renal failure. Absolute GFR and graft size increase and adapt to the children’s growing body mass. [ABSTRACT FROM AUTHOR]

Autosomal recessive renal tubular dysgenesis is a severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (Potter phenotype). Absence or paucity of differentiated proximal tubules is the histopathological hallmark of the disease and may be associated with skull ossification defects. We studied 11 individuals with renal tubular dysgenesis, belonging to nine families, and found that they had homozygous or compound heterozygous mutations in the genes encoding renin, angiotensinogen, angiotensin converting enzyme or angiotensin II receptor type 1. We propose that renal lesions and early anuria result from chronic low perfusion pressure of the fetal kidney, a consequence of renin-angiotensin system inactivity. This is the first identification to our knowledge of a renal mendelian disorder linked to genetic defects in the renin-angiotensin system, highlighting the crucial role of the renin-angiotensin system in human kidney development. [ABSTRACT FROM AUTHOR]

The renal Fanconi syndrome (FS) is characterised by generalised proximal tubular dysfunction. Cystinosis is the most common genetic cause of the FS and results from defective function of cystinosin, due to mutations of theCTNSgene leading to intralysosomal cystine accumulation. Despite these advances in our understanding of the molecular basis of cystinosis, the mechanisms of proximal tubular cell (PTC) dysfunction are still unknown. We have further characterised an in vitro model of cultured cells exfoliated in patients’ urine. We cultured cells from 9 cystinosis children, 4 children with Lowe syndrome and 8 controls. PTC phenotype and homogeneity were studied by lectin staining, immunocytochemistry (using ZO-1 as an epithelial marker) and enzyme cytochemistry (using?-glutamyltransferase as a PTC marker). All cultured cells showed PTC phenotype. Cystinosin was stained using anti-cystinosin antibody and co-localised to the lysosomes with LAMP-2 antibody. Additionally, we have demonstrated significantly elevated intracellular cystine levels in cystinotic cell lines (13.8±2.3 nmol 1/2 cystine/mg protein,P<0.001) compared with controls. We believe this in vitro model will allow further investigation of cystinosis and other types of the FS. [ABSTRACT FROM AUTHOR]

Living-related kidney transplantation (LRKT) is an option for children with end-stage renal failure. In addition to medical concerns, there is uncertainty about the psychological impact of living-related donation on parent donors and families. A survey was conducted on the decision making process and medical and psychosocial consequences of LRKT. Between 1992 and 1999, 20 parents donated a kidney for their child. A questionnaire including 24 items was sent to parent donors and their partners. Nineteen parents and partners responded; the median time after LRKT was 3 years. Donors and partners reported an independent decision making process with no significant influence of partners, relatives, or hospital staff. Partners were more concerned about medical problems than donors themselves (P<0.02). Donors and partners cited no medical problems except sustained pain. Both reported an improved personal relationship towards the transplanted child. Donors and partners also cited an improved personal relationship. The vast majority (18/19) of couples still supported the decision for organ donation. In conclusion, there was a high degree of satisfaction with the decision making process in LRKT. The great majority of donors and partners did not report negative medical or psychological consequences. The relationship between donor, partner, and recipient child improved after LRKT. [ABSTRACT FROM AUTHOR]

Infections jeopardize children on immunosuppression after organ transplantation. Immunization is protective in healthy children. The aims of this study were to analyze the rate and efficacy of immunization in 62 children undergoing dialysis and renal transplantation (RTPL) between 1987 and 2000. The analysis was based on clinical findings, vaccination certificates, and measurement of specific serum antibodies. A member of the renal unit administered vaccinations. All 62 patients were immunized against diphtheria, tetanus, pertussis, poliomyelitis, measles, mumps, rubella, and hepatitis B. Since introduction in 1991 and 1995, 44 and 42 children were also vaccinated against influenza and Hemophilus influenzae type b, respectively. Of 16 patients with a negative history, 14 were given varicella vaccine; 16 children on peritoneal dialysis (PD) or with nephrotic syndrome were immunized against Streptococcus pneumoniae. All vaccinated patients had detectable serum antibodies against measles, mumps, rubella, varicella, hepatitis B, H. influenzae, and S. pneumoniae. There were 3 infections despite vaccination; 1 patient developed varicella after RTPL and 1 patient on PD had 2 episodes of peritonitis caused by H. influenzae and S. pneumoniae. In conclusion, monitoring and administration of the vaccines by the renal team enabled a high immunization rate. Whether vaccines, as documented by antibody titers, or by the low prevalence in the general population promoted the low prevalence of infections remains open, as there were at least a few vaccination failures. [ABSTRACT FROM AUTHOR]

We report on two children, a 12-year-old boy and a 6-year-old girl, with simultaneous occurrence of clinical and laboratory features consistent with both diarrhoea-negative haemolytic uraemic syndrome (D-HUS) and acute post-infectious glomerulonephritis (APGN). Both presented with acute renal insufficiency, hypertension and oedema. Laboratory evaluation revealed micro-angiopathic anaemia with burr cells, thrombocytopenia, elevated lactic dehydrogenase and low complement C3. Urinalysis showed marked proteinuria and haematuria. Renal biopsy was characteristic of APGN, but not of HUS. The outcome was good in both children. Conclusion. The simultaneous occurrence of diarrhoea-negative haemolytic uraemic syndrome and acute post-infectious glomerulonephritis is rare. The outcome is generally good as is expected in the latter condition in contrast to the former. [ABSTRACT FROM AUTHOR]

Chronic kidney disease (CKD) greatly increases the risk for cardiovascular disease (CVD). However, molecular mechanisms underlying CKD-induced arterial remodeling are largely unknown. We performed a systematic analysis of arterial biopsies from children with stage 5 predialysis CKD participating in the Cardiovascular Comorbidity in Children with Chronic Kidney Disease (4 C) study. For comparison, we studied biopsies from children without CKD, coronary bypass vessels from adults with atherosclerotic coronary heart disease without CKD and aortic sections of subtotally nephrectomized rats. In pediatric CKD patients, gene expression was correlated to the cardiovascular phenotype assessed by surrogate end-points. The arterial calcium content correlated with the intima-media thickness (IMT) of biopsied vessels from pediatric CKD patients, was markedly increased compared to biopsies from children without CKD and comparable to adult coronary bypass patients. Significant transcriptional changes included ECM components, pro-calcifying factors, and physiological calcification inhibitors; most were highly accordant with changes observed in adults with atherosclerosis and in uremic rats. Individual gene expression levels were significantly associated with the left ventricular mass index and carotid intima media thickness. Thus, inflammatory processes (TNF, IL-10), calcification inhibitors (CA2), the Wnt-pathway (FGF-2) and foremost, ECM components (HMGA1, VNN1, VCAN), impact pathobiological responses in arteries from children with CKD. [ABSTRACT FROM AUTHOR]

3-Methylglutaconic aciduria is frequently found during urine organic acid analysis and is widely regarded as a marker of a mitochondrial disorder, the clinical features of which are very heterogeneous. We describe two siblings with 3-methylglutaconic aciduria in whom renal ultrasonography showed echogenic medullae consistent with nephrocalcinosis. One patient also developed medullary cysts. In both children renal function was normal and neither had any plasma or urinary evidence of tubulopathy. The presence of nephrocalcinosis and medullary cysts in patients with 3-methylglutaconic aciduria adds to the heterogeneous clinical presentation of this group of disorders. [ABSTRACT FROM AUTHOR]

Reports on the case of a young boy diagnosed with hyperammonaemic encephalopathy. Symptoms experienced by the patient; Result of the micturition cystogram; Types of concurrent pathogenetic mechanisms known to cause hyperammonaemia secondary to urinary tract infection.

A letter to the editor is presented in response to the article "Weight or Body Surface Area Dosing of Steroids in Nephrotic Syndrome: Is There an Outcome Difference?" by S. A. Saadeh, R. Baracco, A. Jain, G. Kapur, T. K. Mattoo and R. P. Valentini.

Background: There is limited information about psychological distress in adults who underwent kidney replacement therapy (KRT) during childhood. This study aimed to describe psychological distress in adults after KRT during childhood in comparison to the Swiss general population and to evaluate associations with sociodemographic and clinical characteristics.We sent a questionnaire to 143 people from the Swiss Pediatric Renal Registry (SPRR), who were alive, over 18 years old, started KRT before the age of 18 years, and were German speakers. We measured psychological distress using the Brief Symptom Inventory 18 (BSI-18) and evaluated the Global Severity Index 18 (GSI-18), reflecting the overall level of distress, and the three subscales: depression, somatization, and anxiety. We compared levels of psychological distress to normal data from the Swiss general population and used regression models to identify associations with sociodemographic and clinical characteristics.Eighty persons with a mean age of 39 years (SD 10.1) responded to the questionnaire (response rate 56%). Overall, the GSI-18 and all subscales of the BSI-18 were similar. Unemployed participants (25%) reported higher levels of somatization and were more likely to experience psychological distress. Participants using psychotropic drugs (14%) reported higher levels of overall psychological distress (10%), depression (13%) and somatization (9%).Adults after KRT during childhood showed good long-term psychological well-being. These results are encouraging and underline the favorable outcome of these patients. So besides the excellent somatic outcome, these patients can achieve a psychological healthy life after diagnosis of chronic kidney disease.A higher resolution version of the Graphical abstract is available as Supplementary informationA higher resolution version of the Graphical abstract is available as Supplementary informationMethods: There is limited information about psychological distress in adults who underwent kidney replacement therapy (KRT) during childhood. This study aimed to describe psychological distress in adults after KRT during childhood in comparison to the Swiss general population and to evaluate associations with sociodemographic and clinical characteristics.We sent a questionnaire to 143 people from the Swiss Pediatric Renal Registry (SPRR), who were alive, over 18 years old, started KRT before the age of 18 years, and were German speakers. We measured psychological distress using the Brief Symptom Inventory 18 (BSI-18) and evaluated the Global Severity Index 18 (GSI-18), reflecting the overall level of distress, and the three subscales: depression, somatization, and anxiety. We compared levels of psychological distress to normal data from the Swiss general population and used regression models to identify associations with sociodemographic and clinical characteristics.Eighty persons with a mean age of 39 years (SD 10.1) responded to the questionnaire (response rate 56%). Overall, the GSI-18 and all subscales of the BSI-18 were similar. Unemployed participants (25%) reported higher levels of somatization and were more likely to experience psychological distress. Participants using psychotropic drugs (14%) reported higher levels of overall psychological distress (10%), depression (13%) and somatization (9%).Adults after KRT during childhood showed good long-term psychological well-being. These results are encouraging and underline the favorable outcome of these patients. So besides the excellent somatic outcome, these patients can achieve a psychological healthy life after diagnosis of chronic kidney disease.A higher resolution version of the Graphical abstract is available as Supplementary informationA higher resolution version of the Graphical abstract is available as Supplementary informationResults: There is limited information about psychological distress in adults who underwent kidney replacement therapy (KRT) during childhood. This study aimed to describe psychological distress in adults after KRT during childhood in comparison to the Swiss general population and to evaluate associations with sociodemographic and clinical characteristics.We sent a questionnaire to 143 people from the Swiss Pediatric Renal Registry (SPRR), who were alive, over 18 years old, started KRT before the age of 18 years, and were German speakers. We measured psychological distress using the Brief Symptom Inventory 18 (BSI-18) and evaluated the Global Severity Index 18 (GSI-18), reflecting the overall level of distress, and the three subscales: depression, somatization, and anxiety. We compared levels of psychological distress to normal data from the Swiss general population and used regression models to identify associations with sociodemographic and clinical characteristics.Eighty persons with a mean age of 39 years (SD 10.1) responded to the questionnaire (response rate 56%). Overall, the GSI-18 and all subscales of the BSI-18 were similar. Unemployed participants (25%) reported higher levels of somatization and were more likely to experience psychological distress. Participants using psychotropic drugs (14%) reported higher levels of overall psychological distress (10%), depression (13%) and somatization (9%).Adults after KRT during childhood showed good long-term psychological well-being. These results are encouraging and underline the favorable outcome of these patients. So besides the excellent somatic outcome, these patients can achieve a psychological healthy life after diagnosis of chronic kidney disease.A higher resolution version of the Graphical abstract is available as Supplementary informationA higher resolution version of the Graphical abstract is available as Supplementary informationConclusions: There is limited information about psychological distress in adults who underwent kidney replacement therapy (KRT) during childhood. This study aimed to describe psychological distress in adults after KRT during childhood in comparison to the Swiss general population and to evaluate associations with sociodemographic and clinical characteristics.We sent a questionnaire to 143 people from the Swiss Pediatric Renal Registry (SPRR), who were alive, over 18 years old, started KRT before the age of 18 years, and were German speakers. We measured psychological distress using the Brief Symptom Inventory 18 (BSI-18) and evaluated the Global Severity Index 18 (GSI-18), reflecting the overall level of distress, and the three subscales: depression, somatization, and anxiety. We compared levels of psychological distress to normal data from the Swiss general population and used regression models to identify associations with sociodemographic and clinical characteristics.Eighty persons with a mean age of 39 years (SD 10.1) responded to the questionnaire (response rate 56%). Overall, the GSI-18 and all subscales of the BSI-18 were similar. Unemployed participants (25%) reported higher levels of somatization and were more likely to experience psychological distress. Participants using psychotropic drugs (14%) reported higher levels of overall psychological distress (10%), depression (13%) and somatization (9%).Adults after KRT during childhood showed good long-term psychological well-being. These results are encouraging and underline the favorable outcome of these patients. So besides the excellent somatic outcome, these patients can achieve a psychological healthy life after diagnosis of chronic kidney disease.A higher resolution version of the Graphical abstract is available as Supplementary informationA higher resolution version of the Graphical abstract is available as Supplementary informationGraphical abstract: There is limited information about psychological distress in adults who underwent kidney replacement therapy (KRT) during childhood. This study aimed to describe psychological distress in adults after KRT during childhood in comparison to the Swiss general population and to evaluate associations with sociodemographic and clinical characteristics.We sent a questionnaire to 143 people from the Swiss Pediatric Renal Registry (SPRR), who were alive, over 18 years old, started KRT before the age of 18 years, and were German speakers. We measured psychological distress using the Brief Symptom Inventory 18 (BSI-18) and evaluated the Global Severity Index 18 (GSI-18), reflecting the overall level of distress, and the three subscales: depression, somatization, and anxiety. We compared levels of psychological distress to normal data from the Swiss general population and used regression models to identify associations with sociodemographic and clinical characteristics.Eighty persons with a mean age of 39 years (SD 10.1) responded to the questionnaire (response rate 56%). Overall, the GSI-18 and all subscales of the BSI-18 were similar. Unemployed participants (25%) reported higher levels of somatization and were more likely to experience psychological distress. Participants using psychotropic drugs (14%) reported higher levels of overall psychological distress (10%), depression (13%) and somatization (9%).Adults after KRT during childhood showed good long-term psychological well-being. These results are encouraging and underline the favorable outcome of these patients. So besides the excellent somatic outcome, these patients can achieve a psychological healthy life after diagnosis of chronic kidney disease.A higher resolution version of the Graphical abstract is available as Supplementary informationA higher resolution version of the Graphical abstract is available as Supplementary information [ABSTRACT FROM AUTHOR]