Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations
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چکیده
منابع مشابه
Protein losing enteropathy due to systemic lupus erythematosus.
We report the case of a 29 year old woman with a protein losing enteropathy caused by systemic lupus erythematosus presenting with periorbital oedema. Only three other cases of protein losing enteropathy due to systemic lupus erythematosus have been described, two of which were thought to be because of a primary enteropathy, although the exact pathogenesis was unknown. We suggest that both the ...
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optic discs were both normal. Foveal schisis and internal limiting membrane changes were observed in each eye (Figure 1). No vitreous detachment was present. Peripherally, there were a localized chorioretinal scar in the right eye and a relatively flat retinoschisis cavity in the left. Electroretinography demonstrated decreased b-wave amplitude, which was consistent with the diagnosis. After ad...
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Case report A 57-year-old male presented with a 10-day history of oedema rising to the level of the xiphisternum. Examination also revealed coarse crepitations over the left upper lung field and finger clubbing. Ten years earlier he had been treated with standard chemotherapy for pulmonary tuberculosis and subsequently developed severe bronchiectasis with persistently purulent sputum. Investiga...
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We report an unusual case of a patient with Behçet's disease that developed protein-losing enteropathy due to intestinal lymphangiectasia.
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: European Journal of Human Genetics
سال: 2016
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2016.5