Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027960 (mole)
 21,279 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

One reason that some people are prone to calcium oxalate nephrolithiasis is that they produce urine that is subnormal in its ability to inhibit the growth of calcium oxalate crystals. We have identified in human urine a glycoprotein (GCI) that inhibits calcium oxalate crystal growth strongly, and at low concentrations (10(-7) M); in this study, we have isolated GCI molecules from the urine of normal people and patients with calcium oxalate stones. GCI from stone formers is abnormal in three ways: it contains no detectable gamma-carboxyglutamic acid (Gla), whereas normal GCI contains 2-3 residues of Gla per mole; about half of the GCI in urine of patients inhibits crystal growth 4-20 times less than normal GCI as judged by its performance in a kinetic growth assay, in vitro; at the air-water interface, patient GCI has a film collapse pressure approximately half of normal. GCI molecules from the urine of patients with calcium oxalate nephrolithiasis are intrinsically abnormal, and these abnormalities could play a role in the genesis of stones.
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PMID:Urine glycoprotein crystal growth inhibitors. Evidence for a molecular abnormality in calcium oxalate nephrolithiasis. 405 37

Blue rubber bleb nevus syndrome is an uncommon condition manifested by gastrointestinal and skin hemangiomas that lead to gastrointestinal bleeding and anemia. The purpose of this report is to present a case with long-term follow-up. The patient is a 37-year-old female with a life-long history of blue rubber bleb nevus syndrome. She underwent multiple resectional operations that combined to give her a partial gastrectomy, partial small bowel resection, total abdominal colectomy, and end ileostomy. She continues to need endoscopy with sclerotherapy. In addition, she has iron-deficiency anemia, nephrolithiasis, major depression, and malnutrition despite vitamin and caloric supplements. There are no other reports showing these complications of blue rubber bleb nevus syndrome or with this length of follow-up. Therapy for blue rubber bleb nevus syndrome should be conservative if possible, because operative therapy may lead to significant long-term complications.
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PMID:Blue rubber bleb nevus syndrome: a case report with long-term follow-up. 1151 27