A systematic review of symptoms experienced by children and young people with kidney failure.

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.

Genetic evaluation of paediatric nephrocalcinosis: phenotype-driven genetic panels reveal a rare diagnosis.

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.