the value of questionnaire and diary in 2020 following the new ICCS standardization papers in treatment naïve patients

oral presentatio

INITIAL SCREENING FOR BEDWETTING: THE USE OF QUESTIONNAIRES AND VOIDING DIARIES First results from a National Belgian study

Title Initial screening for bedwetting: the use of questionnaires and voiding diaries. First results from a National Belgian study Authors S. Karamaria2, N. Ranguelov3, P. Hansen4, V. De Boe5, P. Verleyen6, J. Vande Walle1,2, L. Dossche2, A. Bael7,8 1Department of Pediatric Nephrology, UZ Gent, Ghent, 2Ghent University, 3Department of Pediatrics, Cliniques Universitaires St-Luc, Université Catholique de Louvain, Brussels, 4Department of Pediatrics, CHU Tivoli, La Louvière, 5Department of Urology, UZ Brussel, Brussels, 6Department of Urology, AZ Groeninge, Kortrijk, 7Department of Pediatrics, Pediatric Nephrology, ZNA Koningin Paola Kinderziekenhuis, Antwerp; 8Faculty of Medicine, University of Antwerp, Antwerp Background International guidelines have a consensus that stratification of nocturnal enuresis (NE) into non-monosymptomatic (NMNE) and monosymptomatic (MNE) is mandatory at intake to optimize therapeutic approach. This stratification is based on clinical parameters (presence or absence of Lower Urinary Tract Symptoms (LUTS) respectively). To identify clinical parameters a checklist (Clinical Management Tool (CMT)) and/or voiding diaries based on home recordings can be used. However, these recordings can be time consuming and difficult for the family. Moreover, the added value to the CMT, especially in treatment naïve patients, is rather expert opinion than evidence based. Methods The aim of this study run in 7 Belgian Hospitals, was to document in treatment naïve NE patients >5 years: 1) The prevalence of MNE vs NMNE 2) the added value and correlation of CMT and/or diary in differentiating NE. Two study visits were scheduled: At visit 1 CMT was obtained, after a thorough medical history and basic assessments. If daytime incontinence and/or LUTS were identified, the diagnosis was NMNE. After the 1st study visit, a 2day voiding diary (fluid intake, voiding volumes, incontinence) was registered at home. During the second study visit, this diary was evaluated; if the micturition frequency was >8 or <3 and/or there was daytime incontinence, the diagnosis was NMNE. Results In total 109 children were included, of which19 were lost in follow up. Mean age was 7,7 (±2); 62 were boys (68,9%) and 27 were girls (30%). 68 (75, 6%) were included at a non-University center. Based on the CMT 13 children were diagnosed as MNE (16,7%) and 75 children as NMNE (83,3%). Based on the diary 16 children were diagnosed as MNE (17,8%) and 74 children as NMNE (82,2%). 25 children (27,8%) had the same diagnosis with both methods Regarding the presence or not of LUTS we observed significant inconsistencies between the CMT and the diary. Specifically there was fair agreement between the two modalities for urge (κ=0,219), moderate agreement for daytime incontinence (κ=0,432) and no agreement for abnormal voiding frequency (8 voidings/day) between what the parents answered on the CMT and what they registered in the diary (κ=-0,057). Conclusion NMNE is more frequent than MNE in treatment naïve patients. CMT alone versus CMT + diary had a different sensitivity and specificity of identifying LUTS : in absence of validation of the importance by a therapeutic trial outcome, we state that we can only consider patients as MNE when and CMT and diary do not demonstrate LUTS

A case report of a rare cause of hypophosphatemic rickets--cystinosis

Bowed legs and failure to thrive in children must be thoroughly investigated. Rickets results from deficient mineralization at the growth plate and can lead to bone deformation. The leading cause is vitamin D deficiency, but in rare cases, rickets can be caused by abnormalities of phospho-calcic metabolism, either primary (inherited) or secondary

Fatal type B lactic acidosis in a patient with end-stage liver disease related to homozygous sickle cell disease.

Hepatic involvement by sickle cell disease (SCD) can result in a variety of symptoms ranging from mild to life-threatening. Acute intrahepatic cholestasis is a rare but often fatal condition, with multi-organ failure as a terminal event. The following observation is suggesting that extreme hyperbilirubinemia may be associated with energetic failure. [...

Severe parental phenotype associates with hypertension in children with ADPKD.

Early detection of hypertension in children with autosomal polycystic kidney disease (ADPKD) may be beneficial, but screening children at risk of ADPKD remains controversial. We investigated determinants of hypertension in children with ADPKD to help identify a subgroup of children at risk of ADPKD for whom screening for the disease and/or its complications would be more relevant. In a retrospective study including consecutive children with ADPKD aged 5-18 years and followed at Saint-Luc Hospital Brussels between 2006 and 2020, we investigated the potential association between genotype, clinical characteristics and parental phenotype, and presence of hypertension. Hypertension was defined as blood pressure > P95 during 24-h ambulatory monitoring or anti-hypertensive therapy use. Parental phenotype was considered severe based on age at kidney failure, Mayo Clinic Imaging Classification and rate of eGFR decline. The study enrolled 55 children with ADPKD (mean age 9.9 ± 2.2 years, 45% male), including 44 with a PKD1 mutation and 5 with no mutation identified. Nine (16%) children had hypertension. Hypertension in children was associated with parental phenotype severity (8/27 (30%) children with severe parental phenotype vs. 1/23 (4%) children with non-severe parental phenotype (p = 0.03)) and height-adjusted bilateral nephromegaly (6/9 (67%) children with bilateral nephromegaly vs. 3/44 (7%) children without bilateral nephromegaly (p < 0.001)). Severe parental phenotype is associated with higher prevalence of hypertension in children with ADPKD. Hence, children of parents with severe ADPKD phenotype may be those who will most benefit from screening of the disease and/or yearly BP measures. A higher resolution version of the Graphical abstract is available as Supplementary information

Impact of New vs. Old International Children's Continence Society Standardization on the Classification of Treatment Naïve Enuresis Children at Screening: The Value of Voiding Diaries and Questionnaires.

Expert consensus papers recommend differentiating enuresis using questionnaires and voiding diaries into non- (NMNE) and monosymptomatic enuresis (MNE) is crucial at intake to decide the most appropriate workout and treatment. This national, Belgian, prospective study investigates the correlation, consistency, and added value of the two methods, the new against the old International Children's Continence Society (ICCS) definitions, and documents the prevalence of the two enuresis subtypes in our population. Ninety treatment-naïve enuretic children were evaluated with the questionnaire, and the voiding diary and the two clinical management tools were compared. Almost 30% of the children had a different diagnosis with each method, and we observed inconsistencies between them in registering Lower Tract Symptoms (κ = -0.057-0.432 depending on the symptom). Both methods had a high correlation in identifying MNE ( = 0.612, = 0.001) but not for NMNE ( = 0.127, = 0.248). According to the latest ICCS definitions, the incidence of MNE was significantly lower (7 vs. 48%) with the old standardization. The voiding diary and the questionnaire, as recommended by the ICCS at the screening of treatment-naïve enuretic patients, are considerably inconsistent and have significantly different sensitivities in identifying LUTS and thus differentiating MNE from NMNE. However, the high incidence of LUTS and very low prevalence of MNE suggest that differentiating MNE from NMNE to the maximum might not always correlate with different therapy responses

Characterization, evolution and risk factors of diabetes and prediabetes in a pediatric cohort of renal and liver transplant recipients

Background: Hyperglycemia (HG) and prediabetes are rarely sought in pediatric liver (LT) and renal (RT) transplantation, yet their presence indicates a high risk of diabetes and cardiovascular disease. The objectives of our DIABGRAFT study were to retrospectively (rDIABGRAFT) and longitudinally (pDIABGRAFT) characterize HG and (pre)diabetes in a cohort of children with LT or/and RT. Methods: We retrospectively analyzed risk factors of HG from 195 children with LT from 2012 to 2019 and twenty children with RT from 2005 to 2019 at Cliniques universitaires Saint-Luc. In addition, we prospectively followed four LT and four RT children to evaluate the evolution of their glucose metabolism. Results: Our rDIABGRAFT study showed that 25% and 35% of LT and RT children respectively presented transient HG and 20% of RT developed diabetes. The occurrence of HG was associated with the use of glucocorticoids and with acute events as graft rejection and infection. In our pDIABGRAFT cohort, biological markers of diabetes were in the normal range for HbA1C, fasting glucose and insulin levels. However, oral glucose tolerance test and glucose sensors showed insulin resistance, impaired glucose tolerance and HG in the post-prandial afternoon period. Conclusion: Our study shows that children with LT and RT were more at risk of developing HG when glucocorticoids were required and that HbA1C and fasting glucose lack sensitivity for early detection of glucose intolerance. Also, measurement of glycemia immediately after the transplantation and in postprandial period is key to detect dysglycemia since insulin resistance prevailed in our cohort

ADPedKD: A Global Online Platform on the Management of Children With ADPKD.

Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic cause of renal failure. For several decades, ADPKD was regarded as an adult-onset disease. In the past decade, it has become more widely appreciated that the disease course begins in childhood. However, evidence-based guidelines on how to manage and approach children diagnosed with or at risk of ADPKD are lacking. Also, scoring systems to stratify patients into risk categories have been established only for adults. Overall, there are insufficient data on the clinical course during childhood. We therefore initiated the global ADPedKD project to establish a large international pediatric ADPKD cohort for deep characterization. Global ADPedKD is an international multicenter observational study focusing on childhood-diagnosed ADPKD. This collaborative project is based on interoperable Web-based databases, comprising 7 regional and independent but uniformly organized chapters, namely Africa, Asia, Australia, Europe, North America, South America, and the United Kingdom. In the database, a detailed basic data questionnaire, including genetics, is used in combination with data entry from follow-up visits, to provide both retrospective and prospective longitudinal data on clinical, radiologic, and laboratory findings, as well as therapeutic interventions. The global ADPedKD initiative aims to characterize in detail the most extensive international pediatric ADPKD cohort reported to date, providing evidence for the development of unified diagnostic, follow-up, and treatment recommendations regarding modifiable disease factors. Moreover, this registry will serve as a platform for the development of clinical and/or biochemical markers predicting the risk of early and progressive disease