Differences in urine protein composition due to genetic variability are a main problem for defining biomarkers
Large monogenic pedigrees with reduced genetic background are potentially good models to characterise urinary biomarkers in selected disease
Characterizing a large family with Dent's disease led to definition of specific biomarkers.
Gene ontology analysis revealed high urinary levels of at least 15 protein clusters.
Proteins involved in extracellular matrix remodelling was a major group of interest.