Wolman's disease

[wol´manz] primary familial xanthomatosis in infants; associated with involvement and calcification of the adrenal glands, failure to thrive, vomiting, diarrhea, hepatomegaly, splenomegaly, foam cells in the bone marrow and other tissues, and early death.

Wolman's disease

Cholesterol ester storage disease Genetics An AR storage disease seen in consanguineous cohorts, due to a defect in lysosomal sterol esterase with accumulation of TGs, and cholesterol esters Clinical Hepatosplenomegaly, bloating, wasting, adrenal calcification, xanthomatosis, steatorrhea Lab Anemia, ↑ TGs, cholesterol esters, foam cells in BM, vacuolated lymphocytes in circulation Prognosis Onset in early infancy, death by age 1.

单词	wolman's disease
释义	DictionarySeedisease Wolman's disease Wolman's disease [wol´manz] primary familial xanthomatosis in infants; associated with involvement and calcification of the adrenal glands, failure to thrive, vomiting, diarrhea, hepatomegaly, splenomegaly, foam cells in the bone marrow and other tissues, and early death. Wolman's disease Cholesterol ester storage disease Genetics An AR storage disease seen in consanguineous cohorts, due to a defect in lysosomal sterol esterase with accumulation of TGs, and cholesterol esters Clinical Hepatosplenomegaly, bloating, wasting, adrenal calcification, xanthomatosis, steatorrhea Lab Anemia, ↑ TGs, cholesterol esters, foam cells in BM, vacuolated lymphocytes in circulation Prognosis Onset in early infancy, death by age 1.
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