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Evaluation of urinary cells in acid cholesteryl ester hydrolase deficiency
Author(s) -
Chatterjee Subroto,
Castiglione Elisabeth,
Kwiterovich Peter O.,
Hoeg Jeffrey M.,
Brewer H. Bryan
Publication year - 1986
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1986.tb00505.x
Subject(s) - cholesteryl ester , enzyme , urinary system , hydrolase , urine , chemistry , biochemistry , endocrinology , medicine , biology , cholesterol , lipoprotein
Deficiency in the lysosomal enzyme responsible for cholesteryl ester hydrolysis, acid cholesteryl ester hydrolase (E.C. 3.1.1.13), leads to two clinically recognized diseases: Wolman disease and cholesteryl ester storage disease (CESD). The enzyme defect in these diseases has been detected in all the tissues studied including leukocytes, fibroblasts and liver. Analysis of urinary sediment from well characterized cases of Wolman disease and CESD also revealed the shedding of lipid enriched renal tubular cells. Morphologic, enzymic and lipid compositional studies of these cells indicate that the enzyme deficiency observed in fibroblasts and leukocytes from these individuals are reflected in these cells shed in the urine. These findings in renal tubular cells confirm and extend those made in other cell types. These studies indicate that analysis of urinary sediment in suspected cases of acid cholesteryl ester deficiency may provide a meaningful approach for monitoring therapeutic attempts involving enzyme infusion and gene therapy.