Impact of childhood nephrotic syndrome on obesity and growth: a prospective cohort study.

BACKGROUND: Children with nephrotic syndrome are at risk of obesity and growth impairment from repeated steroid treatment. However, incidence and risk factors for obesity and short stature remain uncertain, which is a barrier to preventative care. Our aim was to determine risk, timing, and predictors of obesity and short stature among children with nephrotic syndrome. METHODS: We evaluated obesity and longitudinal growth among children (1-18 years) enrolled in Insight into Nephrotic Syndrome: Investigating Genes, Health, and Therapeutics. We included children with nephrotic syndrome diagnosed between 1996-2019 from the Greater Toronto Area, Canada, excluding congenital or secondary nephrotic syndrome. Primary outcomes were obesity (body mass index Z-score ≥ + 2) and short stature (height Z-score ≤ -2). We evaluated prevalence of obesity and short stature at enrolment (< 1-year from diagnosis) and incidence during follow-up. Cox proportional hazards models determined the association between nephrotic syndrome classification and new-onset obesity and short stature. RESULTS: We included 531 children with nephrotic syndrome (30% frequently relapsing by 1-year). At enrolment, obesity prevalence was 23.5%, 51.8% were overweight, and 4.9% had short stature. Cumulative incidence of new-onset obesity and short stature over median 4.1-year follow-up was 17.7% and 3.3% respectively. Children with frequently relapsing or steroid dependent nephrotic syndrome within 1-year of diagnosis were at increased risk of new-onset short stature (unadjusted hazard ratio 3.99, 95%CI 1.26-12.62) but not obesity (adjusted hazard ratio 1.56, 95%CI 0.95-2.56). Children with ≥ 7 and ≥ 15 total relapses were more likely to develop obesity and short stature, respectively. CONCLUSIONS: Obesity is common among children with nephrotic syndrome early after diagnosis. Although short stature was uncommon overall, children with frequently relapsing or steroid dependent disease are at increased risk of developing short stature. Effective relapse prevention may reduce steroid toxicity and the risk of developing obesity or short stature.

A Guide for Adult Nephrologists and Hematologists to Managing Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy in Teens Transitioning to Young Adults.

Atypical hemolytic uremic syndrome and C3 glomerulopathy/immune complex membranoproliferative glomerulonephritis are ultra-rare chronic, complement-mediated diseases with childhood manifestation in a majority of cases. Transition of clinical care of patients from pediatric to adult nephrologists-typically with controlled disease in native or transplant kidneys in case of atypical hemolytic uremic syndrome and often with chronic progressive disease despite treatment efforts in case of C3 glomerulopathy/immune complex membranoproliferative glomerulonephritis-identifies a challenging juncture in the journey of these patients. Raising awareness for the vulnerability of this patient cohort; providing education on disease pathophysiology and management including the use of new, high-precision complement antagonists; and establishing an ongoing dialog of patients, families, and all members of the health care team involved on either side of the age divide will be inevitable to ensure optimal patient outcomes and a safe transition of these patients to adulthood.

Long-Term Efficacy and Safety of Repeated Rituximab to Maintain Remission in Idiopathic Childhood Nephrotic Syndrome: An International Study.

BACKGROUND: Long-term outcomes after multiple courses of rituximab among children with frequently relapsing, steroid-dependent nephrotic syndrome (FRSDNS) are unknown. METHODS: A retrospective cohort study at 16 pediatric nephrology centers from ten countries in Asia, Europe, and North America included children with FRSDNS who received two or more courses of rituximab. Primary outcomes were relapse-free survival and adverse events. RESULTS: A total of 346 children (age, 9.8 years; IQR, 6.6-13.5 years; 73% boys) received 1149 courses of rituximab. A total of 145, 83, 50, 28, 22, and 18 children received two, three, four, five, six, and seven or more courses, respectively. Median (IQR) follow-up was 5.9 (4.3-7.7) years. Relapse-free survival differed by treatment courses (clustered log-rank test P<0.001). Compared with the first course (10.0 months; 95% CI, 9.0 to 10.7 months), relapse-free period and relapse risk progressively improved after subsequent courses (12.0-16.0 months; HRadj, 0.03-0.13; 95% CI, 0.01 to 0.18; P<0.001). The duration of B-cell depletion remained similar with repeated treatments (6.1 months; 95% CI, 6.0 to 6.3 months). Adverse events were mostly mild; the most common adverse events were hypogammaglobulinemia (50.9%), infection (4.5%), and neutropenia (3.7%). Side effects did not increase with more treatment courses nor a higher cumulative dose. Only 78 of the 353 episodes of hypogammaglobulinemia were clinically significant. Younger age at presentation (2.8 versus 3.3 years; P=0.05), age at first rituximab treatment (8.0 versus 10.0 years; P=0.01), and history of steroid resistance (28% versus 18%; P=0.01) were associated with significant hypogammaglobulinemia. All 53 infective episodes resolved, except for one patient with hepatitis B infection and another with EBV infection. There were 42 episodes of neutropenia, associated with history of steroid resistance (30% versus 20%; P=0.04). Upon last follow-up, 332 children (96%) had normal kidney function. CONCLUSIONS: Children receiving repeated courses of rituximab for FRSDNS experience an improving clinical response. Side effects appear acceptable, but significant complications can occur. These findings support repeated rituximab use in FRSDNS.

Students-As-Teachers: Fostering medical educators.

BACKGROUND: While mounting evidence supports various benefits of Students-As-Teachers (SAT) curricula in preparing students to teach, limited SAT electives are offered across Canada. We developed a 4-week SAT selective for fourth-year medical students at the University of Toronto to enhance medical education knowledge and teaching skills. This study aimed to evaluate the SAT programme and its impact on students' development as educators, their experience as learners and educators, and their future plans for involvement with medical education. APPROACH: Students participated in highly interactive small group seminars and teaching opportunities in nonclinical and clinical environments. Course evaluation consisted of pre-selective and post-selective surveys and written reflections on the selective experience and future career aspirations. A theory-based evaluation approach was utilized to compare the SAT programme's theory with course outcomes. EVALUATION: Post-SAT selective, students self-reported greater knowledge and confidence in teaching methods, provision of feedback, medical education scholarship, and interest in further medical education training. Student reflections highlighted three key themes. Identity formation as educators and the importance of mentorship in medical education aligned with our programme theory, while an unexpected outcome included a shifting perception on teaching and feedback from a learner to an educator lens. IMPLICATIONS: This study's findings demonstrate the ability of SAT curricula to build capacity for future medical educators. Positive factors contributing to the programme's outcomes included cohort size, course and seminar structure, and active group participation. Future iterations may explore use of flipped classroom models, additional clinical teaching opportunities, and near-peer teaching.

Reducing Unnecessary Imaging in Children With Multicystic Dysplastic Kidney or Solitary Kidney.

BACKGROUND AND OBJECTIVES: Children with isolated unilateral multicystic dysplastic kidney (MCDK) or congenital solitary kidney (CSK) undergo serial renal ultrasonography with variable frequency until they are transitioned to adult care. A growing body of literature suggests the value of frequent ultrasonography in this population is limited, providing no benefit to overall outcomes. Despite emerging evidence, ultrasound remains overused, resulting in avoidable health care expenditures and unnecessary use of resources. With our initiative, we aimed to improve quality of care by reducing avoidable ultrasounds in these children. METHODS: This was a single-center, prospective, interrupted time series of children <18 years with ultrasound-confirmed isolated unilateral MCDK or CSK in the outpatient nephrology clinic to evaluate the effect of a decision-making algorithm on the proportion of children receiving an avoidable ultrasound. An algorithm depicting a consensus, evidence-based protocol for managing pediatric MCDK or CSK was refined through content expert feedback and usability testing to standardize frequency of ultrasonography. Ultrasounds were deemed necessary after birth, at 6 months, and at 2, 5, 10, and 15 years. Differences pre- and postintervention were determined by using a U chart and t and F tests for significance. RESULTS: The algorithm resulted in a 47% reduction (P < .001) in the proportion of avoidable ultrasounds ordered in children with MCDK and CSK. This reduction was sustainable over a 6-month period and would result in at least $46 000 annual savings. CONCLUSIONS: Introduction of a clinical decision-making algorithm was associated with a reduction in avoidable ultrasound testing. Improving adherence across providers may allow for an even more pronounced reduction.

Paediatric hypertension for the primary care provider: What you need to know.

The prevalence of hypertension has increased in the paediatric and adolescent populations, and is estimated between 1% and 2% in Canada. Paediatric and adolescent hypertension differs from adult hypertension in many ways, and primary care providers may not be up to date with current guidelines and recommendations. Recently, the American Academy of Pediatrics updated and published guidelines on the diagnosis, evaluation, and management of hypertension in children and adolescents. This paper summarizes these new guidelines in addition to the existing Canadian guidelines in a simple four-step approach, catered to a primary care setting, detailing the diagnosis, evaluation, workup, and management of hypertension in children and adolescents.

Impact of steroids and steroid-sparing agents on quality of life in children with nephrotic syndrome.

BACKGROUND: Steroids and/or steroid-sparing medications are commonly used for nephrotic syndrome treatment; however, the impact of these medications on health-related quality of life over time is not well described. METHODS: Longitudinal cohort is up to 5 years where children were assessed with baseline and annual Pediatric Quality of Life Inventory questionnaire. A mixed-effects linear regression determined differences in scores among children receiving steroids and/or steroid-sparing agents for at least 30 days compared with those not on medication at 1, 3, 6, and 12 months prior to assessment. RESULTS: Among 295 children, 64% were male, with a median age of 3.7 (interquartile range [IQR], 2.7, 5.9) years at diagnosis, and comprised 25% Europeans, 40% South Asians, and 8% East/Southeast Asians. Adjusted HRQOL scores were reduced among children taking steroids and steroid-sparing agents among 705 HRQOL measures (median 2 [IQR, 1, 3] per child). Compared to children without medication, steroid and steroid-sparing agent use up to 12 months prior to assessment were associated with an overall HRQOL drop of 3.17 (95% confidence interval [CI], - 5.25, - 1.08) and 3.18 (95% CI, - 5.24, - 1.12), respectively, after adjustment. Functioning domain scores were reduced by 4.41 points (95% CI, - 6.57, - 2.25) in children on steroids, whereas fatigue domain scores were reduced by 5.47 points (95% CI, - 9.28, - 1.67) in children on steroid-sparing agents after adjustment. CONCLUSIONS: HRQOL is consistently decreased in children receiving steroids and steroid-sparing agents, with differential effects on functioning and fatigue. Counseling families on possible effects of prolonged treatment periods is important in the management of childhood nephrotic syndrome.

Prediction of Short- and Long-Term Outcomes in Childhood Nephrotic Syndrome.

INTRODUCTION: It is unknown whether steroid sensitivity and other putative risk factors collected at baseline can predict the disease course of idiopathic nephrotic syndrome in childhood. We determined whether demographic, clinical, and family reported factors at presentation can predict outcomes in idiopathic nephrotic syndrome. METHODS: An observational cohort of 631 children aged 1 to 18 years diagnosed with idiopathic nephrotic syndrome between 1993 and 2016 were followed up until clinic discharge, 18 years of age, end-stage kidney disease (ESKD), or the last clinic visit. Baseline characteristics were age, sex, ethnicity, and initial steroid sensitivity. Of these, 287 (38%) children also reported any family history of kidney disease, preceding infection, microscopic hematuria, and history of asthma/allergies. The outcomes were complete remission after initial steroid course, need for a second-line agent, frequently relapsing disease, and long-term remission. The discriminatory power of the models was described using the c-statistic. RESULTS: Overall, 25.7% of children had no further disease after their initial steroid course. In addition, 31.2% developed frequently relapsing disease; however, 77.7% were disease-free at 18 years of age. Furthermore, 1% of children progressed to ESKD. Logistic regression modeling using the different baseline exposures did not significantly improve the prediction of outcomes relative to the observed frequencies (maximum c-statistic, 0.63; 95% confidence interval [CI], 0.59-0.67). The addition of steroid sensitivity did not improve outcome prediction of long-term outcomes (c-statistic, 0.63; 95% CI, 0.54-0.70). CONCLUSIONS: Demographic, clinical, and family reported characteristics, specifically steroid sensitivity, are not useful in predicting relapse rates or long-term remission in idiopathic nephrotic syndrome. Further studies are needed to address factors that contribute to long-term health.

Association of low birth weight and prematurity with clinical outcomes of childhood nephrotic syndrome: a prospective cohort study.

BACKGROUND: Low birth weight (LBW)/prematurity have been proposed as risk factors for the development of kidney disease in adulthood. Whether there is an association between LBW/prematurity and poor renal outcomes in childhood onset nephrotic syndrome remains unknown. METHODS: Children with nephrotic syndrome diagnosed between 1 and 18 years of age were followed prospectively from 1996 to 2016 at The Hospital for Sick Children (N = 377). LBW/prematurity was defined as birth weight < 2500 g or gestational age < 36 weeks. Normal birth weight (NBW) was defined as birth weight ≥ 2500 g. Measures evaluating clinical course of nephrotic syndrome include initial steroid-resistant nephrotic syndrome (SRNS), time to first relapse, and frequently relapsing nephrotic syndrome. Kaplan-Meier survival analysis, logistic regression, and Cox proportional hazards regression were used to determine the association of LBW/prematurity with clinical outcomes. RESULTS: Median birth weights in LBW/premature (n = 46) and NBW (n = 331) children were 2098 g (interquartile range [IQR] 1700-2325 g) and 3317 g (IQR 2977-3685 g), respectively. Odds of having SRNS were 3.78 (95% confidence interval [CI] 1.28-11.21) times higher among LBW/premature children than NBW children. An 8% decrease in odds of developing SRNS was observed for every 100 g increase in birth weight (adjusted odds ratio [OR] 0.92; 95% CI 0.86-0.98). Median time to first relapse did not differ (hazard ratio [HR] 0.89; 95% CI 0.53-1.16). CONCLUSIONS: LBW/premature children were more likely to develop SRNS but did not have a difference in time to first relapse with NBW children. Understanding the impact and mechanism of birth weight and steroid-resistant disease needs further study.

Management and Outcomes of Childhood Renal Artery Stenosis and Middle Aortic Syndrome.

BACKGROUND: Renal artery stenosis (RAS) in isolation or in conjunction with middle aortic syndrome (MAS) are important vascular causes of childhood hypertension. Few longitudinal studies have assessed the risk of surgical or endovascular intervention, and outcomes by etiology or extent of vascular disease. METHODS: In a retrospective study of 93 children seen over 30 years with RAS and/or MAS, data on vascular involvement (isolated RAS vs. RAS with MAS), etiology (unknown, inflammatory, or genetic), and management were collected. Time to first intervention (endovascular or surgical) was assessed by Cox regression. Mixed-effects analysis examined the longitudinal change in blood pressure after intervention compared to antihypertensive medications alone. RESULTS: Children were 7.0 ± 5.4 years old. Etiology was unknown in 50%, genetic in 26% and inflammatory in 24% of children. Children had isolated RAS (49%) or MAS with or without RAS (51%). Overall, 70% were managed with surgical or endovascular intervention. After adjusting for age, sex, and systolic blood pressure, children with unknown etiology had a higher risk of intervention compared to those with genetic and inflammatory diseases (hazard ratio 3.1, 95% confidence interval [CI] 1.7, 5.6). Children with RAS and MAS were less likely to receive intervention (hazard ratio 0.4, 95% CI 0.2, 0.8) than isolated RAS. Over a median follow-up of 2 years, 65% remained hypertensive. The longitudinal changes in systolic blood pressure did not differ by etiology, or between interventional and medical management. CONCLUSIONS: Hypertension persists despite endovascular or surgical management of childhood RAS and MAS highlighting the importance of close monitoring and ongoing medical management.

Cardiovascular Structure and Function in Children With Middle Aortic Syndrome and Renal Artery Stenosis.

Middle aortic syndrome (MAS) is a narrowing of the abdominal aorta, often in conjunction with renal artery stenosis (RAS). Structure and function of the cardiovascular system are not well understood. In a prospective cross-sectional study, 35 children with MAS or RAS or both (MAS/RAS) were compared with 140 age-, sex-, and body surface area-matched healthy children. Vascular assessment included carotid intima-media thickness and carotid distensibility using B-mode ultrasound and central and peripheral pulse wave velocities using applanation tonometry. Left ventricular structure and function were assessed by 2-dimensional and speckle-tracking echocardiography. Children with MAS or RAS were 12.5±3.0 years old at enrollment, and 50% were men. Carotid intima-media thickness (0.54±0.10 versus 0.44±0.05 mm; P<0.001) and central pulse wave velocities (5.58±1.83 versus 5.00±0.90 m/s; P=0.01) were significantly higher in children with disease compared with healthy children; however, after adjustment for systolic blood pressure z score, only carotid intima-media thickness remained significantly higher in the MAS/RAS group compared with the controls (ß=0.07 [0.03, 0.10]). Peripheral pulse wave velocities and carotid distensibility were normal. Children with disease had significantly increased left ventricular mass and changes in diastolic function (lower E/a ratio and lower e' velocities). Systolic parameters, including ejection fraction, global longitudinal and circumferential strain, were similar to controls. Our findings demonstrate that children with MAS or RAS have evidence of carotid and left ventricular remodeling, without peripheral arterial involvement, which suggests a localized disease process. Left ventricular systolic function is preserved; however, subtle changes in diastolic function are observed. Carotid vessel changes are consistent with a 5- to 10-year aging, which underscores the importance of blood pressure control.

Parental Health Literacy and Outcomes of Childhood Nephrotic Syndrome.

OBJECTIVE: Determine the association of parental health literacy with treatment response among children with nephrotic syndrome. METHODS: This was a cohort study of children aged 1-18 with nephrotic syndrome and their parent. Health literacy was measured using the validated Short Test of Functional Health Literacy in Adults assessing reading comprehension and numeracy. Outcomes included initial relapse-free period, frequently relapsing disease, relapse rate, second-line medication use, and complete remission after therapy. RESULTS: Of 190 parents, 80% had adequate health literacy (score >67 of 100), and higher scores were not correlated with higher education. Almost all achieved perfect numeracy scores (>86%); numeracy was not associated with outcomes. After adjusting for immigration, education, and income, higher reading comprehension scores (tertile 3) compared with lower scores (tertile 1) were significantly associated with lower risk of first relapse (hazard ratio 0.67, 95% confidence interval [CI] 0.48-0.94, P trend = .02), lower odds of frequently relapsing disease (odds ratio [OR] 0.38, 95% CI 0.21-0.70, P trend = .002), lower relapse rate (rate ratio 0.77, 95% CI 0.73-0.80, P trend < .001), and higher odds of complete remission after both initial steroids and cyclophosphamide (OR 2.07, 95% CI 1.36-3.16, P trend = .003; OR 5.97, 95% CI 2.42-14.7, P trend < .001). CONCLUSIONS: Lower parental health literacy, specifically reading comprehension, is associated with higher relapse rates among children with nephrotic syndrome and fewer achieving complete remission. This underscores the importance of assessing and targeting health literacy for chronic management of childhood-onset diseases.

Ethnic Differences in Incidence and Outcomes of Childhood Nephrotic Syndrome.

BACKGROUND AND OBJECTIVES: Ethnic differences in outcomes among children with nephrotic syndrome are unknown. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: We conducted a longitudinal study at a single regional pediatric center comparing ethnic differences in incidence from 2001 to 2011 census data and longitudinal outcomes, including relapse rates, time to first relapse, frequently relapsing disease, and use of cyclophosphamide. Among 711 children, 24% were European, 33% were South Asian, 10% were East/Southeast Asian, and 33% were of other origins. RESULTS: Over 10 years, the overall incidence increased from 1.99/100,000 to 4.71/100,000 among children ages 1-18 years old. In 2011, South Asians had a higher incidence rate ratio of 6.61 (95% confidence interval, 3.16 to 15.1) compared with Europeans. East/Southeast Asians had a similar incidence rate ratio (0.76; 95% confidence interval, 0.13 to 2.94) to Europeans. We determined outcomes in 455 children from the three largest ethnic groups with steroid-sensitive disease over a median of 4 years. South Asian and East/Southeast Asian children had significantly lower odds of frequently relapsing disease at 12 months (South Asian: adjusted odds ratio; 0.55; 95% confidence interval, 0.39 to 0.77; East/Southeast Asian: adjusted odds ratio; 0.42; 95% confidence interval, 0.34 to 0.51), fewer subsequent relapses (South Asian: adjusted odds ratio; 0.64; 95% confidence interval, 0.50 to 0.81; East/Southeast Asian: adjusted odds ratio; 0.47; 95% confidence interval, 0.24 to 0.91), lower risk of a first relapse (South Asian: adjusted hazard ratio, 0.74; 95% confidence interval, 0.67 to 0.83; East/Southeast Asian: adjusted hazard ratio, 0.65; 95% CI, 0.63 to 0.68), and lower use of cyclophosphamide (South Asian: adjusted hazard ratio, 0.82; 95% confidence interval, 0.53 to 1.28; East/Southeast Asian: adjusted hazard ratio, 0.54; 95% confidence interval, 0.41 to 0.71) compared with European children. CONCLUSIONS: Despite the higher incidence among South Asians, South and East/Southeast Asian children have significantly less complicated clinical outcomes compared with Europeans.

Parental attitudes to genetic testing differ by ethnicity and immigration in childhood nephrotic syndrome: a cross-sectional study.

BACKGROUND: Studies in the USA report differences in opinion among parents of different ethnic groups toward genetic testing for their child; however, there are no studies that address this issue in the diverse ethnic and immigrant population in Canada. OBJECTIVE: This study aims to determine whether ethnicity and immigration status influences parental interest in clinical genetic testing for a potentially progressive kidney disease. DESIGN: This is a cross-sectional study. SETTING: Participants were recruited from the Greater Toronto Area, Canada. PARTICIPANTS: The study included 320 parents of children ages 1-18 years with nephrotic syndrome enrolled in the Insight into Nephrotic Syndrome: Investigating Genes, Health and Therapeutics (INSIGHT) observational cohort study. MEASUREMENTS: Demographic, ethnicity, immigration, and child specific factors as well as interest in genetic testing were collected through self-reported questionnaires administered at baseline study visit. METHODS: Logistic regression models were used to examine association of ethnicity and immigration status with interest in genetic testing. RESULTS: The majority of parents (85 %) were interested in genetic testing for their child. South Asian and East/Southeast Asian parents had 74 and 76 % lower odds of agreeing to genetic testing when compared to Europeans (odds ratio (OR) 0.26, 95 % confidence interval (CI) 0.10-0.68; OR 0.24, 95 % CI 0.07-0.79, respectively) after controlling for age and sex of child, age and education level of parent, initial steroid resistance, and duration of time in Canada. Immigrants to Canada also had significantly lower odds (OR 0.29, 95 % CI 0.12-0.72) of agreeing to genetic testing after similar adjustment. Higher education level was not associated with greater interest in genetic testing (OR 1.24, 95 % CI 0.64-2.42). LIMITATIONS: Participants have already agreed to aggregate genetic testing for research purposes as part of enrolment in INSIGHT study. CONCLUSION: While majority of parents were interested in genetic testing for their child, immigrants, particularly South Asians and East/Southeast Asians, were more likely to decline genetic testing. Genetic counseling needs to be tailored to address specific concerns in these parental groups to maximize informed decision-making in the clinical setting. TRIAL REGISTRATION: ClinicalTrials.gov, NCT01605266.

MISE EN CONTEXTE: Des études aux États-Unis font état de différences d'opinions parmi les parents provenant de différentes origines ethniques quant à la possibilité de procéder à des tests de dépistage génétique sur leurs enfants. Toutefois il n'existe aucune étude qui traite de cette question au sein des différents groupes ethniques au Canada. OBJECTIFS DE L'ÉTUDE: L'étude avait pour but de vérifier si l'origine ethnique ou le statut d'immigrant des parents influençait leur façon d'aborder la question du dépistage génétique pour la détection d'une néphropathie potentiellement évolutive chez leur enfant. CADRE ET TYPE D'ÉTUDE: Cette étude transversale s'est tenue dans la grande région de Toronto au Canada. PARTICIPANTS: Il s'agit de 320 parents d'enfants âgés de 1 à 18 ans atteints d'un syndrome néphrotique qui participaient à l'étude de cohorte observationnelle INSIGHT (Insight into Nephrotic Syndrome: Investigating Genes Health and Therapeutics). MESURES: Les données soit la répartition démographique l'origine ethnique ou le statut d'immigrant des parents, les éléments propres à l'enfant ainsi que le niveau d'intérêt des parents à l'égard des tests de dépistage génétique, ont été colligées à partir d'un questionnaire remis aux parents lors de la première visite. MÉTHODOLOGIE: Des modèles de régression logistique ont été utilisés pour établir un parallèle entre l'origine ethnique ou le statut d'immigrant d'un parent et son intérêt à soumettre son enfant à un dépistage génétique. RÉSULTATS: La majorité des participants à l'étude (85 %) démontrait un intérêt envers la possibilité de soumettre leur enfant à un test de dépistage génétique. Toutefois dans le cas précis des gens originaires de l'Asie du Sud et de ceux provenant de l'Extrême-Orient ou de l'Asie du Sud-Est, les probabilités de consentir à un tel test étaient respectivement de 74 % et de 76 % plus faibles que pour les gens d'origine européenne. (Risque relatif [RR] : 0,26 à 95 % d'intervalle de confiance [IC] : 0.10-0.68; RR : 0,24 à 95 % IC : 0.07-0.79 respectivement). Ces résultats ont été obtenus après l'exclusion d'indicateurs relatifs à l'âge et au sexe de l'enfant, au sexe et au niveau d'éducation des parents, à la résistance de l'enfant au traitement initial par les stéroïdes et à la durée du séjour au Canada. Cette observation s'est également confirmée chez les immigrants reçus, pour qui la probabilité de consentir à un tel test pour leur enfant s'est aussi avérée significativement moins élevée après l'application des mêmes correctifs (RR : 0,29, à 95 % IC : 0.12-0.72). Aucune corrélation n'a pu être établie entre le niveau d'éducation élevé des parents et un intérêt accru à soumettre leur enfant à un test de dépistage génétique (RR : 1,24 à 95 % IC : 0.64-2.42). LIMITES DE L'ÉTUDE: Les résultats sont limités du fait que les participants avaient consenti à soumettre leur enfant à un test de dépistage génétique fà des fins de recherche dans le cadre de leur inclusion à l'étude INSIGHT. CONCLUSIONS: Alors que la majorité des parents ayant participé à l'étude voyait d'un bon œil la possibilité de soumettre leur enfant à un test de dépistage génétique les immigrants reçus ainsi que les participants originaires de l'Asie du Sud, de l'Extrême-Orient et de l'Asie du Sud-Est se sont avérés plus susceptibles de décliner l'offre. Par conséquent, le processus de consultation en génétique doit être adapté pour mieux répondre aux inquiétudes et aux préoccupations de ces groupes de parents; ceci afin de tirer le meilleur parti d'une prise de décision éclairée dans un contexte clinique.

Disease Beyond the Arch: A Systematic Review of Middle Aortic Syndrome in Childhood.

BACKGROUND: Middle aortic syndrome (MAS) is a rare clinical entity in childhood, characterized by a severe narrowing of the distal thoracic and/or abdominal aorta, and associated with significant morbidity and mortality. MAS remains a relatively poorly defined disease. This paper systematically reviews the current knowledge on MAS with respect to etiology, clinical impact, and therapeutic options. METHODS: A systematic search of 3 databases (Embase, MEDLINE, and Cochrane Central Register of Controlled Trials) yielded 1,252 abstracts that were screened based on eligibility criteria resulting in 184 full-text articles with 630 reported cases of childhood MAS. Data extracted included patient characteristics, clinical presentation, vascular phenotype, management, and outcomes. RESULTS: Most cases of MAS are idiopathic (64%), 15% are associated with Mendelian disorders, and 17% are related to inflammatory diseases. Extra-aortic involvement including renal (70%), superior mesenteric (30%), and celiac (22%) arteries is common, especially among those with associated Mendelian disorders. Inferior mesenteric artery involvement is almost never reported. The majority of cases (72%) undergo endovascular or surgical management with residual hypertension reported in 34% of cases, requiring medication or reintervention. Clinical manifestations and extent of extra-aortic involvement are lacking. CONCLUSIONS: MAS presents with significant involvement of visceral arteries with over two thirds of cases having renal artery stenosis, and one third with superior mesenteric artery stenosis. The extent of disease is worse among those with genetic and inflammatory conditions. Further studies are needed to better understand etiology, long-term effectiveness of treatment, and to determine the optimal management of this potentially devastating condition.

Pre-procedure desmopressin acetate to reduce bleeding in renal failure: does it really work?

BACKGROUND: Desmopressin (DDAVP) is often used prior to procedures to minimize bleeding in patients with renal failure; however, there is little evidence to support this practice. The objectives of this study were to evaluate the practice of administration of DDAVP prior to procedures within our division and to determine the number of bleeding episodes for patients who received DDAVP compared to those who did not. METHODS: Hospital records of patients who underwent renal biopsy or central line placement between April 2006 and March 2008 were reviewed. Patients with glomerular filtration rate (GFR) <60 ml/min/1.73 m(2) were identified and subcategorized into three groups: group A GFR <15 ml/min/1.73 m(2), group B GFR 15-29 ml/min/1.73 m(2), and group C GFR 30-60 ml/min/1.73 m(2). The number of bleeding events was noted in each group. RESULTS: No significant difference was found in the number of bleeding events between those who received and did not receive DDAVP overall and in each GFR group. A possible trend towards the benefit with treatment in group A was observed. CONCLUSION: There was no significant reduction in bleeding for those who received DDAVP which questions the validity of this practice. Patients with GFR <15 ml/min/1.73 m(2) may possibly derive benefit.