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Background: Kidney failure at any age has a significant impact on quality of life (QoL) but the overall symptom burden for children and young people (CYP) is poorly described. Kidney failure has no cure and whilst transplantation is the preferred management option, it is not always possible, with patients requiring supportive care at the end of their lives., Aim: To use the literature to understand the symptom burden for CYP with kidney failure who are approaching end-of-life., Methods: Using three databases, a systematic literature review was performed to identify eligible studies to extract data on symptoms experienced in CYP aged < 21 years with kidney failure. Data extraction was completed by two authors using a pre-designed proforma. Study quality assessment was undertaken using the BMJ AXIS tool., Results: A total of 20,003 titles were screened to yielding 35 eligible studies including 2,862 CYP with chronic kidney disease (CKD), of whom 1,624 (57%) had CKD stage 5. The studies included a median of 30 (range 7-241) patients. Symptoms were subcategorised into eight groups: sleep, mental health, gastrointestinal, dermatology, ear, nose and throat (ENT), neurology, multiple symptoms, and ophthalmology. The prevalences of the most commonly reported symptoms were: restless leg syndrome 16.7-45%, sleep disordered breathing 20-46%, hypersomnia 14.3-60%, depression 12.5-67%, anxiety 5.3-34%, overall gastrointestinal symptoms 43-82.6%, nausea and vomiting 15.8-68.4%, abdominal pain 10.5-67.4%, altered appetite or anorexia 19-90%, xerosis 53.5-100%, pruritis 18.6-69%, headache 24-76.2% and ophthalmological symptoms 26%. Within each subgroup, the symptom definitions used were heterogeneous, the methods of assessment were varied and some symptoms, such as pain and constipation, were poorly represented., Conclusions: There is a marked lack of evidence relating to the symptom burden for CYP with CKD. This study highlights the high symptom prevalence, particularly in relation to sleep, mental health, headache, dermatological and gastrointestinal symptoms. There is a need for consensus recommendations on the evaluation and management of symptoms for CYP with CKD approaching end-of-life., Prospero Id: CRD42022346120., Competing Interests: Declarations. Conflict of interest: Dr Ben Reynolds chairs the paediatric subgroup of the UK Kidney Association (UKKA) supportive care group ( https://ukkidney.org ); this work was undertaken to inform this group. The remaining authors have no relevant financial or non-financial interests to disclose., (© 2024. The Author(s), under exclusive licence to International Pediatric Nephrology Association.)

Monogenic causes of paediatric nephrocalcinosis are associated with extensive phenotypic variability. We report a 14-year-old male who presented at 8 years of age with incidentally identified nephrocalcinosis alongside growth impairment and dental anomalies. Extensive genetic investigation confirmed a molecular diagnosis of Bartter syndrome type II. This is exceptional in both late presentation and the presence of amelogenesis imperfecta, a very rare association of inherited tubulopathies. Details of the nephrocalcinosis gene panel analysed and associated phenotypes are presented to highlight the utility of a phenotype-driven genetic panel in resolving an atypical presentation of nephrocalcinosis, allowing precise diagnosis, tailored therapy and prognostication., (© The Author(s) 2021. Published by Oxford University Press on behalf of the ERA.)