Isolated proteinuria due to CUBN homozygous mutation - challenging the investigative paradigm
Kushani Jayasinghe, Susan M White, Peter G Kerr, Duncan MacGregor, Zornitza Stark, Ella Wilkins, Cas Simons, Andrew Mallett, Catherine Quinlan
BMC NEPHROLOGY | BMC | Published : 2019
BACKGROUND: Proteinuria is a common clinical presentation, the diagnostic workup for which involves many non-invasive and invasive investigations. We report on two siblings that highlight the clinically relevant functional role of cubulin for albumin resorption in the proximal tubule and supports the use of genomic sequencing early in the diagnostic work up of patients who present with proteinuria. CASE PRESENTATION: An 8-year-old boy was referred with an incidental finding of proteinuria. All preliminary investigations were unremarkable. Further assessment revealed consanguineous family history and a brother with isolated proteinuria. Renal biopsy demonstrated normal light microscopy and gl..View full abstract
Awarded by Australian National Health and Medical Research Council
This study was financed by the Australian National Health and Medical Research Council (NHMRC APP1098654) and the Royal Brisbane and Women's Hospital Foundation. The research conducted at the Murdoch Children's Research Institute was supported by the Victorian Government's Operational Infrastructure Support Program. The study leverages the supports and infrastructures enabled by the KidGen Collaborative and Australian Genomics Health Alliance. KJ was supported by the Royal Australian College of Physicians Jacquot Research Entry Scholarship.