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Background Microscopic haematuria in children is associated with the risk of progression to chronic kidney disease. Genetic disease is an important potential aetiology. Genomic sequencing presents the most effective diagnostic route for these conditions, but access remains inequitable internationally. Methods We conducted a retrospective review of the electronic medical records of a Kidney Genomics Clinic (KGC) from January 2016 to December 2021. Results Sixty patients were referred to the KGC with haematuria over this period. Forty-three percent of patients had analysis of a limited haematuria panel (COL4A1, COL4A3, COL4A4, COL4A5, MYH9) with 58% receiving a genetic diagnosis. Forty-two percent of referred patients had further analysis of genes implicated in the development of kidney disease, and 36% received a diagnosis. Eight percent of patients underwent cascade testing for a known familial variant, and all received a diagnosis. Children with the highest levels of haematuria (> 500 x 10.sup.6/L red blood cells) had the highest diagnostic yield (67%). Proteinuria, defined as a urinary protein to creatinine ratio > 20, increased the diagnostic yield from 31 to 65%. Importantly, negative genetic analysis can still have significant clinical utility for patients by altering surveillance and further management; the genetic result had clinical utility in 60% of patients. Conclusions Our KGC review highlights the substantial clinical utility and diagnostic yield of genomic analysis for microscopic haematuria in paediatric patients. Whilst the management of variants of uncertain significance can be challenging, a multidisciplinary team including genetic counselling can help ensure these patients are followed up meaningfully. Graphical abstract, Author(s): Josiah Shanks [sup.1] [sup.2] [sup.3] , Grainne Butler [sup.1] [sup.2] [sup.3] [sup.4] , Daryl Cheng [sup.2] , Kushani Jayasinghe [sup.3] , Catherine Quinlan [sup.1] [sup.2] [sup.3] [sup.4] Author Affiliations: [...]

Aim Method Results Conclusion We aimed to investigate the frequency of vitamin C deficiency scurvy in the Australian paediatric context, describe cohorts at risk, and identify factors associated with development of symptoms in children with vitamin C deficiency. We also aimed to propose a management guideline for children with features of scurvy.A retrospective study was done at a tertiary paediatric hospital in Australia over a three‐year period, from August 2019 to July 2022. Children from birth to 18 years old, whose vitamin C levels were low (<23 μmol/L), were included. Data extracted from hospital medical records included demographics, weight, co‐morbidities, eating disorder diagnoses, clinical features, investigations and treatment. Descriptive statistics and risk statistics were performed.In a cohort of 887 patients who had their vitamin C levels checked, we identified 272 (31%) who had a vitamin C level <23 μmol/L. Of these, 13 (5%) were symptomatic of vitamin C deficiency and 19 (7%) may have been symptomatic. In patients with vitamin C deficiency, 248 (91%) had comorbidities, neurodevelopmental disorders being most common, and 176 (65%) had restricted eating. When the asymptomatic and symptomatic groups were compared, in the symptomatic group, there was a significantly lower vitamin C level and disordered eating related to autism spectrum disorders was more common.In order to avoid delayed diagnoses and unnecessary investigations, clinicians should be familiar with symptoms of scurvy and perform a dietary assessment, vitamin C assay, and commence empiric vitamin C supplementation where appropriate. [ABSTRACT FROM AUTHOR]

Aim: Victoria experienced two 'waves' of COVID‐19 between March and September 2020 and more cases than any other jurisdiction in Australia. Although world‐wide reports of COVID‐19 reflect that children are less likely to experience severe disease compared with adults, hospitalisations and deaths have been reported. We report testing and outcomes of children with SARS‐CoV‐2 infection presenting to a tertiary paediatric hospital in Melbourne. Methods: We conducted a prospective cohort study at The Royal Children's Hospital (RCH), including all children and adolescents (aged 0–18 years) who presented and were tested for SARS‐CoV‐2 over a 6‐month period, between 21 March 2020, up to the 21 September 2020. Detailed epidemiological and clinical data were recorded. Results: A total of 19 708 tests for SARS‐CoV‐2 were performed in 14 419 patients. One hundred and eighty patients tested positive for SARS‐CoV‐2 (1.2%). 110 (61%) were symptomatic, 60 (33%) were asymptomatic and 10 (6%) were pre‐symptomatic. Close contacts of a positive case were associated with a higher risk of a testing positive for SARS‐CoV‐2 (120/2027 (6%) vs. 60/14589 (0.4%), RD 5.5 (95% CI 4.5 to 6.5), P < 0.001). Eighteen (10%) SARS‐CoV‐2‐positive patients were admitted to hospital with one patient requiring intensive care. All patients recovered fully with no deaths. Conclusion: In Victorian children presenting to a tertiary hospital, SARS‐CoV‐2 infection caused predominantly mild or asymptomatic infection, with most children not requiring hospitalisation. [ABSTRACT FROM AUTHOR]