Hepatocytes in Nail-Patella Syndrome

A case of nail-patella syndrome accompanied by oliguria, hypertension and proteinuria in a 25 year old woman is described. She had deformities of the elbows, dystrophic toe nails, iliac horns and renal failure. Electron microscopic examination of the liver biopsy revealed lipid accumulation, glycogen depletion and vacuolar formation both in the cytoplasm and nucleus of the hepatocytes. In this study, the significance of these findings and the possible pathophysiology of the disease are discussed. The liver alterations represent a new manifestation of this syndrome and have never been described previously.