Plasmalemma Vesicle Associated Protein Truncation Causes Lethal Protein-Losing Enteropathy in Humans
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چکیده
منابع مشابه
Plasmalemma Vesicle Associated Protein Truncation Causes Lethal Protein-Losing Enteropathy in Humans
rotein-losing enteropathy (PLE) is a syndrome that Pfeatures excessive losses of serum proteins into the gastrointestinal (GI) tract. PLE elicits hypoproteinemia, often leading to severe edema, ascites, malnutrition, and fatality in affected infants. Although PLE is thought to be induced by several pathologic conditions, ranging from erosive or nonerosive GI disorders to increased intestinal pr...
متن کاملMutations in Plasmalemma Vesicle Associated Protein Result in Sieving Protein-Losing Enteropathy Characterized by Hypoproteinemia, Hypoalbuminemia, and Hypertriglyceridemia
BACKGROUND & AIMS METHODS Severe intestinal diseases observed in very young children are often the result of monogenic defects. We used whole exome sequencing (WES) to examine the genetic cause in a patient with a distinct severe form of protein losing enteropathy (PLE) characterized by hypoproteinemia, hypoalbuminemia, and hypertriglyceridemia. METHODS WES was performed at the Centre for App...
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Four patients with collagen diseases are described, who developed protein losing enteropathy in the course of their disease. Their protein losing enteropathies subsided after treatment with 60 mg/day oral prednisolone. Immunohistological studies of the small intestine showed deposits of C3 in the capillary walls of villi in two patients. Increased capillary permeability due to autoimmune phenom...
متن کاملPrimary lupus-associated protein-losing enteropathy.
A 79-year-old native American female with a history of diabetes mellitus, but no history of hepatic or renal disease, presented with anasarca and hypoalbuminemia. Laboratory tests for fecal alpha 1-antitrypsin and an indium III-labeled plasma transferrin nuclear scan revealed a protein-losing enteropathy. A serological test was positive for antinuclear antibody in a titer of 1:1250 with a homog...
متن کامل[Protein-losing enteropathy].
Protein-losing enteropathy (PLE) is a rare complication of intestinal diseases. Its main manifestation is hypoproteinemic edema. The diagnosis of PLE is based on the verification of protein loss into the intestinal lumen, by determining fecal α1-antitrypsin concentration and clearance. The localization of the affected colonic segment is clarified using radiologic and endoscopic techniques. The ...
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ژورنال
عنوان ژورنال: Cellular and Molecular Gastroenterology and Hepatology
سال: 2015
ISSN: 2352-345X
DOI: 10.1016/j.jcmgh.2015.06.003