Isolated proteinuria due to CUBN homozygous mutation - challenging the investigative paradigm.

ABSTRACT:

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 global glomerular basement membrane thinning on electron microscopy. Chromosomal microarr

SUBMITTER: Jayasinghe K 

PROVIDER: S-EPMC6704575 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature