Proteomic analysis and immunohistochemical (IHC) analyses of exosomes revealed significant alternative profiling of mitochondrial and lysosomal proteins in patients with ARPKD and an abrupt increase in expression of lysosomal N-sulfoglucosamine sulfohydrolase (SGSH) in both urinary exosomes and renal biopsies. The gene discussed is SGSH; the disease is autosomal recessive polycystic kidney disease.