Hereditary Tyrosinemia with Hyperplasia and Hypertrophy of Juxtaglomerular Apparatus

Abstract

Histopathologic and clinical studies of a child with the acute form of hereditary tyrosinemia indicate the difficulty in distinguishing certain features of this disorder from those of galactosemia. Previously unreported hyperplasia and hypertrophy of the juxtaglomerular apparatus were noted and may be a unique morphologic feature of this disorder. Abnormalities found on ultrastructural study of the liver of this case, while nonspecific, demonstrate a phylogenetically primitive pattern of architecture quite different from that of cirrhosis. Such observations may serve as possible clues to the etiology of hereditary tyrosinemia.