Case Report: Early acute kidney failure in an 11-year-old boy with Dent disease type 1

Dent disease type 1 (Dent 1) is a rare X-linked genetic condition which impacts kidney function and is caused by pathogenic variants in CLCN5. Affected males typically develop low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, and other symptoms. Kidney failure often occurs between the third to fifth decade of life. Here, we report an 11-year-old boy with Dent 1 and a severe kidney disease phenotype. The patient presented with flank pain, nocturnal enuresis, foamy urine, and increased urinary frequency. He was found to have nephrotic-range proteinuria, without hypoalbuminemia, and a significantly decreased estimated glomerular filtration rate at presentation. Further, he did not have hypercalciuria. His family history was remarkable for kidney disease among several relatives including a maternal half-brother and two sons of a maternal great aunt. Due to his symptoms and a strong family history, the patient underwent genetic testing that detected a novel pathogenic variant in CLCN5 [c.791dup (p.Ser265Glnfs*3)]. Given the variability of symptoms among family members and the early onset of severe symptoms in this young patient compared to prior literature, we encourage genetic testing for Dent disease in similarly affected individuals

Pediatric Immunization Practices in Nephrotic Syndrome: An Assessment of Provider and Parental Knowledge

Background: Children with nephrotic syndrome (NS) are at high risk for vaccine-preventable infections due to the immunological effects from the disease and concurrent treatment with immunosuppressive medications. Immunizations in these patients may be deferred due to their immunosuppressive treatment which may increase the risk for vaccine-preventable infections. Immunization practices in children with NS continue to vary among pediatric nephrologists. This raises the question of whether children with NS are receiving the recommended vaccinations at appropriate times. Therefore, it is critical to understand the practices and patient education provided by physicians to patients on the topic of vaccinations. Methods: After informed consent, parents/guardians of 153 pediatric patients (\u3c18 years old) diagnosed with NS from 2005 to 2018 and 50 pediatric nephrologists from 11 participating centers completed anonymous surveys to evaluate immunization practices among pediatric nephrologists, assess the vaccine education provided to families of children with NS, assess the parental knowledge of immunization recommendations, and assess predictors of polysaccharide pneumococcal vaccine adherence. The Advisory Committee on Immunization Practices (ACIP) Immunization 2019 Guideline for those with altered immunocompetence was used to determine accuracy of vaccine knowledge and practices. Results: Forty-four percent of providers self-reported adherence to the ACIP guidelines for inactive vaccines and 22% to the guidelines for live vaccines. Thirty-two percent of parents/guardians reported knowledge that aligned with the ACIP guidelines for inactive vaccines and 1% for live vaccines. Subjects residing in the Midwest and provider recommendations for vaccines were positive predictors of vaccine adherence (p \u3c 0.001 and p 0.02, respectively). Conclusions: Vaccine recommendation by medical providers is paramount in vaccine adherence among pediatric patients with NS. This study identifies potential educational opportunities for medical subspecialty providers and family caregivers about immunization recommendations for immunosuppressed patients

COVID-19 in pediatric kidney transplantation: The Improving Renal Outcomes Collaborative.

There are limited data on the impact of COVID-19 in children with a kidney transplant (KT). We conducted a prospective cohort study through the Improving Renal Outcomes Collaborative (IROC) to collect clinical outcome data about COVID-19 in pediatric KT patients. Twenty-two IROC centers that care for 2732 patients submitted testing and outcomes data for 281 patients tested for SARS-CoV-2 by PCR. Testing indications included symptoms and/or potential exposures to COVID-19 (N = 134, 47.7%) and/or testing per hospital policy (N = 154, 54.8%). Overall, 24 (8.5%) patients tested positive, of which 15 (63%) were symptomatic. Of the COVID-19-positive patients, 16 were managed as outpatients, six received non-ICU inpatient care and two were admitted to the ICU. There were no episodes of respiratory failure, allograft loss, or death associated with COVID-19. To estimate incidence, subanalysis was performed for 13 centers that care for 1686 patients that submitted all negative and positive COVID-19 results. Of the 229 tested patients at these 13 centers, 10 (5 asymptomatic) patients tested positive, yielding an overall incidence of 0.6% and an incidence among tested patients of 4.4%. Pediatric KT patients in the United States had a low estimated incidence of COVID-19 disease and excellent short-term outcomes

Mycophenolate mofetil in children with steroid-dependent and/or frequently relapsing nephrotic syndrome.

Background: Mycophenolate mofetil (MMF) has emerged as a new agent for treatment of a variety of glomerular diseases. This study ex-amines the safety and efficacy of MMF in treating pediatric patients with steroid-dependent (SD) and/or frequently relapsing (FR) nephrotic syndrome (NS). Methods: We retrospectively reviewed the medical records of 18 pa-tients with SDNS and/or FRNS treated with MMF for at least 3 months. MMF was used in 11 patients with SDNS (n=10) and FRNS (n=1), includ-ing 7 males and 4 females. Results: Mean age at time of diagnosis of NS was 3.3 years (range, 1.1-8.5 years), and at the start of MMF 5.9 years (range, 2.9-10 years). Seven patients had a renal biopsy prior to starting MMF; all had me-sangial proliferative glomerulonephritis. Mean follow-up after starting MMF was 12.2 months (range, 4-24 months). Mean MMF dose was 948 mg/m2/day (range, 500-1087 mg/m2/day). MMF resulted in improvement in 9 of 11 patients, with 8 patients weaned off steroids completely, with a reduction in the mean relapse rate from 4.7 relapses/patient/year (range, 2.4-6) before MMF to 1.05 relapses/patient/year (range, 0-4.5) after MMF therapy (P=0.0001). The relative risk for relapse before MMF was 4.7 (P=0.0002). None of the patients had significant adverse events or intol-erance to MMF therapy. Conclusion: We conclude that MMF is a safe and effective option for treatment of children with SDNS and/or FRNS