3 結果
Wolman's disease is characterized by diffuse cellular accumulation of cholesteryl ester and triacylglycerol, steatorrhea, and death in infancy. Although lysosomal acid ester hydrolase has been reported to be absent in tissues from affected infants, full evaluation of the intracellular ester
The definition of steatorrhea is an increase in fat excretion in the stools. Steatorrhea is one of the clinical features of fat malabsorption and noted in many conditions such as exocrine pancreatic insufficiency (EPI), celiac disease, and tropical sprue. An increase in the fat content of stools
Cystic fibrosis transmembrane conductance regulator (CFTR) is a chloride channel highly expressed in epithelial cells of the gastrointestinal tract. Mutations in the CFTR gene cause cystic fibrosis (CF), a disease characterized by pancreatic insufficiency, fat malabsorption, and steatorrhea. Despite