A 3-year-old child presents with failure to thrive, hepatosplenomegaly, and a pathologic femur fracture. Vital signs show HR 110/min, RR 28/min, temperature 37.2°C. Laboratory studies reveal elevated acid phosphatase (45 U/L) and chitotriosidase. Bone marrow biopsy demonstrates foamy macrophages engorged with cholesterol esters and glucocerebroside. Pulmonary examination is clear without respiratory distress. Which enzyme deficiency accounts for these pathologic findings?
- A)Sphingomyelinase
- B)Acid lipase (lysosomal cholesterol ester hydrolase)GABARITO
- C)Lipoprotein lipase
- D)Glucocerebrosidase
- E)Arylsulfatase A
Explicação
Acid lipase deficiency causes Wolman disease (chronic form) or cholesteryl ester storage disease. This enzyme normally hydrolyzes cholesterol esters and triglycerides within lysosomes. Without it, cholesterol esters accumulate in macrophages (foamy macrophages... Ver explicação completa e trilha adaptativa →