Article ; Online: Novel mutation causing congenital disorder of glycosylation in a child with recurrent anasarca.
BMJ case reports
2022 Volume 15, Issue 5
Abstract: Protein-losing enteropathy entails an excessive loss of proteins in intestinal tract due to underlying primary or secondary pathologies. It is suspected in patients with chronic diarrhoea and peripheral oedema. Faecal alpha 1 antitrypsin clearance is the ...
Abstract | Protein-losing enteropathy entails an excessive loss of proteins in intestinal tract due to underlying primary or secondary pathologies. It is suspected in patients with chronic diarrhoea and peripheral oedema. Faecal alpha 1 antitrypsin clearance is the gold standard for diagnosis. Treatment includes a high-protein fat-modified diet, and replacements for micronutrients, electrolytes and vitamin deficiencies. Prognosis is variable depending on the underlying cause. |
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MeSH term(s) | Child ; Diarrhea/complications ; Edema/complications ; Feces ; Glycosylation ; Humans ; Mutation ; Protein-Losing Enteropathies/diagnosis ; alpha 1-Antitrypsin/metabolism |
Chemical Substances | alpha 1-Antitrypsin |
Language | English |
Publishing date | 2022-05-13 |
Publishing country | England |
Document type | Case Reports ; Journal Article |
ISSN | 1757-790X |
ISSN (online) | 1757-790X |
DOI | 10.1136/bcr-2021-245884 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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