Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0393754 (HSA)
 2,996 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In the differential diagnosis, protein-losing enteropathy (PLE) is a rarely considered explanation of edema. Three such cases are reported in this article. Clinical presentations varied from severe generalized anasarca and respiratory distress to mild pitting edema on the pretibial surface. Hypoalbuminemia (< 35 g/l) was another common finding in addition to edema. The patients were carefully examined to exclude other causes of hypoalbuminemia. Two patients experienced diarrhea. Endoscopic studies (plus biopsies) for any mucosal lesion in the stomach and colon were also performed. PLE was confirmed by the positive radionuclide scanning results after infusing intravenous 99mTc human serum albumin (USA). Investigation for the etiologies showed intestinal lymphangiectasia in 1 patient, Menetrier's disease in another, and no recognizable cause in the third. The severe anasarca of the patient with intestinal lymphangiectasia didn't respond to corticosteroids and albumin supplement plus large doses of furosemide. She died of overwhelming pulmonary infection despite the use of powerful antibiotics (ceftriaxone and amikacin). We planned to treat the Menetrier's disease patient with somatostatin to decrease the exocrine activities of the intestinal tract. The patient with presumable idiopathic PLE had the least severe edema and was not treated with any medication. In addition to the above patients, another 3 patients with hypoalbuminemia and edema were also noted to have positive HSA scan results. However, 2 of these patients had systemic lupus erythromatosus and the third pulmonary tuberculosis and biopsy-proven membranous nephropathy. Treatment of their underlying diseases showed satisfactory remission of edema.
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PMID:Edema due to protein-losing enteropathy--a disorder rarely considered by nephrologists. 1203 1

This report concerns two patients with severe protein losing enteropathy and refractory diarrhea due to AA amyloidosis who were successfully treated with corticosteroid and octreotide. In these patients, biopsied tissues from the gastrointestinal (GI) tract showed extensive deposition of AA amyloid, which was caused by rheumatoid arthritis in one case and was of unidentified etiology in the other. Both patients manifested severe diarrhea unresponsive to conventional treatment with hypoproteinemia, and protein leakage from the small intestine to the ascending colon was confirmed by 99mTc-diethylene triamine pentaacetic acid human serum albumin (HSA-D) scintigraphy. Soon after starting a long-acting somatostatin analogue, octreotide, with co-administration of oral prednisolone, their general status improved in parallel with a rapid decrease in the volume of watery diarrhea and an increase in serum levels of albumin and IgG. Also on 99mTc-HSA-D scintigraphy protein leakage from the GI tract was apparently decreased in both patients. Combination therapy with a somatostatin analogue and corticosteroid may be effective for protein losing enteropathy with intractable diarrhea ascribable to GI amyloidosis. Because of the lack of specific therapies in this serious clinical situation, the described therapy should actively be considered as a therapeutic option not only in AA amyloidosis, but also in other types of systemic amyloidosis.
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PMID:Severe protein losing enteropathy with intractable diarrhea due to systemic AA amyloidosis, successfully treated with corticosteroid and octreotide. 1607 11

The enterotoxigenic Escherichia coli (ETEC) F4ac is a major cause of diarrhoea in newborn and young pigs. The locus for the intestinal ETEC F4ac receptor (F4acR) has been mapped to pig chromosome (SSC) 13q41 with known homology to human chromosome (HSA) 3q21 and q29. However, the causative gene and mutation(s) remain unknown. The aim of this study was to characterize gene-derived markers on SSC13q41 for fine mapping of the F4acR locus, and construct a high-resolution pig-human comparative map to select positional candidate genes for F4acR. Pig-specific sequence-tagged site markers were developed for 20 genes that are located in a 6.8-Mb region on HSA3q21 and q29, and a total of 34 single-nucleotide polymorphisms (SNPs) were identified in 14 of 20 markers developed. Eighteen markers were mapped to SSC13q41, while the other two markers (PLXNA1 and KLF15) were assigned to SSC13q32 and SSC7q13, respectively, by radiation hybrid mapping. This result showed that there was a small conserved segment on SSC7 corresponding to HSA3q21. A framework map comprising 18 markers on SSC13q41 was established, refining the synteny breakpoint on SSC13q41 to a region of 12.3 centiRay. The comparative radiation hybrid (RH) map revealed three interesting candidate genes for F4acR from the human genome, viz. MUC4, MUC13 and MUC20. Linkage analysis with six marker polymorphisms revealed that MUC4 had the most significant linkage with the F4acR locus.
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PMID:A pig-human comparative RH map comprising 20 genes on pig chromosome 13q41 that harbours the ETEC F4ac receptor locus. 1920 27

A 66-year-old man with severe diarrhea and severe hypoproteinemia was referred for Tc-DTPA-human serum albumin (HSA-D) scintigraphy. The scintigraphy at 24 hours postinjection showed strong accumulation of Tc-HSA-D in not only the colon but also all his diapers containing his egested feces. The ratio of the diapers counts to the total counts was 17.0%, and a considerable amount of protein loss was confirmed. Tc-HSA-D scintigraphy has an important role in diagnosing protein-losing enteropathy, but the abdomen is the only routinely scanned area. Additional scanning of egested radiotracer and the whole body can be useful for evaluating the disease severity.
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PMID:Egested Feces Revealed Massive Protein Loss in 99mTc-HSA-D Scintigraphy. 3243 59