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Background: Diagnosing genetic kidney disease has become more accessible with low-cost, rapid genetic testing. The study objectives were to determine genetic testing diagnostic yield and examine predictors of genetic diagnosis in children with nephrolithiasis/nephrocalcinosis (NL/NC). Methods: This retrospective multicenter cross-sectional study was conducted on children ≤ 21 years old with NL/NC from pediatric nephrology/urology centers that underwent the Invitae Nephrolithiasis Panel 1/1/2019–9/30/2021. The diagnostic yield of the genetic panel was calculated. Bivariate and multiple logistic regression were performed to assess for predictors of positive genetic testing. Results: One hundred and thirteen children (83 NL, 30 NC) from 7 centers were included. Genetic testing was positive in 32% overall (29% NL, 40% NC) with definite diagnoses (had pathogenic variants alone) made in 11.5%, probable diagnoses (carried a combination of pathogenic variants and variants of uncertain significance (VUS) in the same gene) made in 5.4%, and possible diagnoses (had VUS alone) made in 15.0%. Variants were found in 28 genes (most commonly HOGA1 in NL, SLC34A3 in NC) and 20 different conditions were identified. Compared to NL, those with NC were younger and had a higher proportion with developmental delay, hypercalcemia, low serum bicarbonate, hypophosphatemia, and chronic kidney disease. In multivariate analysis, low serum bicarbonate was associated with increased odds of genetic diagnosis (β 2.2, OR 8.7, 95% CI 1.4–54.7, p = 0.02). Conclusions: Genetic testing was high-yield with definite, probable, or possible explanatory variants found in up to one-third of children with NL/NC and shows promise to improve clinical practice. [ABSTRACT FROM AUTHOR]

Background: Ambulatory blood pressure monitoring (ABPM) is a standard screening tool for the diagnosis of hypertension in children, adolescents, and adults. However, there is confusion and misunderstanding about which guidelines can provide the most accurate diagnostic values. Local problem: At a large, free-standing pediatric hospital, ABPM testing was historically being conducted by both nephrology and cardiology departments. The nephrology service was using the American Heart Association (AHA) guidelines, published in 2014 for interpretation of results and for diagnosis of hypertension, whereas the cardiology service depended on the 2004 National High Blood Pressure Education Program (NHBEP) fourth report, which led to discrepancies in diagnosis of hypertension in this patient population. Methods: A nurse practitioner–led quality improvement project was designed and implemented to determine the best method of ABPM monitoring and test interpretation based on comparing results of patients using height, gender, and application of either the 2004 NHBEP fourth report or 2014 AHA guidelines. Interventions: Using a retrospective chart review, ABPM monitoring results from both cardiology and nephrology services were reviewed and compared to identify the most accurate methods and to recommend changes to practice. Results: Accuracy of interpretation for ABPM is best accomplished using the 2014 AHA guidelines. Conclusions: Using a single method of interpretation provides consistent diagnosis and treatment of hypertension in children. Nurse practitioners can apply this knowledge in other settings to manage hypertension and provide similar services in different settings, including primary care. [ABSTRACT FROM AUTHOR]

Background: Exposure to gadolinium-based contrast agents (GBCA) in patients with chronic kidney disease (CKD) has been associated with the development of a potentially fatal disorder, nephrogenic systemic fibrosis (NSF). Although contrast-enhanced computed tomography (CT) is an alternative to magnetic resonance imaging (MRI), it carries the risk of radiation exposure and further reduction of residual renal function. Therefore we sought to assess the feasibility of ferumoxytol as an alternative to GBCA for contrast-enhanced MR angiography (MRA) in a pediatric cohort with CKD. Ferumoxytol is a parenteral iron supplement that contains ultrasmall superparamagnetic iron oxide (USPIO) and is a potent relaxivity agent for MRI. Methods: We describe the MRI findings in ten pediatric patients who needed detailed vascular mapping. Ferumoxytol (4 mg/kg) was administered intravenously for contrast-enhanced MRA. The patients tolerated the procedure without complications. Results: Resulting studies were highly diagnostic and were pivotal in guiding patient management. The images were notable for clear delineation of multiple vascular occlusions. Conclusions: Given the concerns associated with the use of GBCAs in renal failure, ferumoxytol is an excellent alternative contrast agent in pediatric end stage renal disease (ESRD) patients. Future studies are needed in order to further evaluate safety and efficacy of ferumoxytol in this patient population. [ABSTRACT FROM AUTHOR]