A 42-year-old man presents with hepatomegaly, jaundice, refractory ascites, and renal insufficiency. Peripheral leukocytes exhibit only 20% of normal glucocerebrosidase activity. Which of the following would explain his symptoms?

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Quizplus · Accepted Answer

The symptoms and low glucocerebrosidase activity are indicative of Gaucher disease, a lysosomal storage disorder characterized by hepatomegaly, jaundice, and other systemic symptoms due to the accumulation of glucocerebroside.  Gaucher disease is characterized by the lysosomal accumulation of glucosylceramide (glucocerebroside) which is a normal intermediate in the catabolism of globosides and gangliosides. Gaucher disease results from defects in the gene encoding the lysosomal hydrolase: acid β-glucosidase, also called glucocerebrosidase The hallmark feature of Gaucher disease is the presence of lipid-engorged cells of the monocyte/macrophage lineage with a characteristic appearance in a variety of tissues. These distinctive cells contain one or more nuclei and their cytoplasm contains a striated tubular pattern described as "wrinkled tissue paper." These cells are called Gaucher cells.

A 42-Year-Old Man Presents with Hepatomegaly, Jaundice, Refractory Ascites, and Renal