title: Nephronophthisis with massive proteinuria.
abstract: A 23-year-old male whose uncle died of nephronophthisis, and whose pathology is also discussed, presented with 5 g of protein in a 24-hour urine collection. Nephrogenic diabetes insipidus and salt wasting were present in addition to azotemia. Characterization of the proteinuria, including elevated alpha globulins by electrophoresis and markedly elevated urinary beta-microglobulins by radioimmunoassay (49.55 mg/L) indicated predominantly tubular proteinuria. A percutaneous renal biopsy showed normal glomeruli, interstitial inflammation and fibrosis, and tubular atrophy. Electron microscopy revealed notable alterations of the tubular basement membrane.
mesh_terms: D000328:Adult; D001609:Beta-Globulins / Q000652:urine; D006801:Humans; D007136:Immunoglobulins / Q000652:urine; D007668:Kidney / Q000473:pathology; D007674:Kidney Diseases / Q000652:urine*; D052177:Kidney Diseases, Cystic / Q000150:complications* / Q000235:genetics / Q000652:urine; D007678:Kidney Glomerulus / Q000648:ultrastructure; D007684:Kidney Tubules / Q000648:ultrastructure; D008297:Male; D008854:Microscopy, Electron; D011507:Proteinuria / Q000209:etiology*
chemical_list: D001609:Beta-Globulins; D007136:Immunoglobulins