Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Short bowel syndrome (SBS) is a rare disease, resulting from extensive resection of the small intestine. Depending on the severity of malabsorption, it will lead to intestinal failure, defined as the reduction of gut function below the minimum necessary for the absorption of macronutrients and/or water and electrolytes, resulting in a situation where intravenous supplementation is required. The risk of developing intestinal failure is related to the remaining length of small intestine and the anatomy of the remnant bowel. SBS incidence has been estimated to range from 5 to 10 patients per year per million population. The main consequence of SBS is a marked reduction of intestinal absorption surface and its main complication is undernutrition and hydro-electrolytic abnormalities. Parenteral nutrition (PN), the major treatment of intestinal failure, has long-term complications. In case of PN dependency, treatment with trophic factors can be proposed. Glucagon-like peptide-2 (GLP-2) analogs allow significant reduction of PN dependency and improve quality of life. Rehabilitative surgery should always be proposed, with the primary goal of restoring digestive continuity. Sometimes, an additional surgical procedure, such as an antiperistaltic reversal of a small bowel segment, is performed when restoring digestive continuity in patients with insufficient length of remnant small intestine to enhance the possibility of PN withdrawal. Intestinal transplantation is proposed as a last resort.
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PMID:Medical and surgical management of short bowel syndrome. 3004 5

We present the case of a 59-year-old patient with malabsorption syndrome which started with polyneuropathy. Capsule endoscopy and enteroscopy show villous denudation. Histological study confirms diaphragm disease of the small bowel. Diaphragm disease is a rare disease characterized by the presence of multiple thin diaphragms, such as septa, that narrow the intestinal lumen. The clinical features can be iron deficiency anemia, intestinal obstruction, change in bowel habits or acute abdomen secondary to perforation. It is usually generally with sustained use of high doses of non-steroidal anti-inflammatory drugs. The diagnosis usually requires the use of a capsule endoscopy or enteroscopy with biopsies.
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PMID:Enteroscopic diagnosis of intestinal malabsorption of a rare etiology: diaphragm disease. 3205 83

Primary biliary cholangitis is a slowly progressive immune-mediated cholestatic disease that causes a destruction of the intrahepatic bile ducts and may lead to cirrhosis of the liver, end-stage liver disease, and the need for liver transplantation. The disease is among the most common reasons why adults require liver transplantation. The primary signs of the disease include the presence of antimitochondrial and antinuclear antibodies, elevated alkaline phosphatase, hyperbilirubinemia, hypercholesterolemia, and histologic features, such as intense inflammation with a florid duct lesion and hepatic fibrosis. The patient's quality of life is impacted by fatigue, pruritus, malabsorption syndrome, sicca syndrome, osteoporosis, and challenges coping with chronic illness. Advanced practice registered nurses need to understand the pathophysiology, clinical presentation, diagnostic approaches, disease and symptom management, and priority nursing assessment and care in patients with this rare disease to differentiate it from primary sclerosing cholangitis, autoimmune hepatitis, obstructed bile duct lesions, drug-induced cholestasis, cholestasis in pregnancy, cholangiocarcinoma, hepatic malignancy, and peptic ulcer disease.
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PMID:A Clinical Review of Primary Biliary Cholangitis. 3225 Dec 26


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