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)

Three adults with alpha 1-antitrypsin deficiency are described. In two of the cases the deficiency was genetically determined (cases 1 and 2), and each demonstrated unusual features of the disease. The liver in case 1 (homozygous) showed cholangiolar hyperplasia which has been recorded only once before. Case 2 (heterozygous) had emphysema and cirrhosis, a combination not previously documented in a heterozygote, in addition to malabsorption. Case 3 represents a case of spurious alpha 1-antitrypsin deficiency with cirrhosis included to emphasize the diagnostic improtance of phenotyping in such cases.
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PMID:Adult alpha1-antitrypsin deficiency. 108 Nov

We reviewed the fecal fat excretion and alpha 1-antitrypsin clearance results of 160 patients with steatorrhea in whom a final diagnosis was obtained, based on history, physical examination, and radiological, functional and morphological tests. Twenty-two patients had pancreatic diseases and 138 had steatorrhea due to gastrointestinal diseases. alpha 1-antitrypsin clearance was invariably normal in chronic pancreatitis, but there was only a 23 to 50% of correct etiological classification when the combination of steatorrhea and normal alpha 1-antitrypsin clearance was present. However, none of our patients diagnosed of chronic pancreatitis had abnormal alpha 1-antitrypsin clearance. The combination of steatorrhea and normal clearance of alpha 1-antitrypsin was a modest clue for diagnosis of pancreatic malabsorption.
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PMID:Fecal alpha 1-antitrypsin clearance in the differential diagnosis of steatorrhea. 130 Aug 54

The alpha 1-antitrypsin deficient subject (protease inhibitor (PI) phenotype ZZ) has an increased susceptibility to liver disease. The condition is most commonly identified in early infancy as a conjugated hyperbilirubinaemia with hepatitis (11%) or a bleeding state due to vitamin K malabsorption (2%). 50% of cases have cirrhosis and 25% die in the first decade of life. A further 2% present with cirrhosis in later childhood. Adult males are at risk of hepatoma development with or without cirrhosis. Diagnosis is by isoelectric focussing or allele-specific oligonucleotide hybridization. The treatment is that of cholestasis and cirrhosis including transplantation. The pathobiology of the deficiency state, the mechanism of liver damage and the vulnerability of the newborn liver are discussed in this review. A plea is made for a trial of infusions of alpha 1-antitrypsin in early infancy, as is used safely but without proven efficacy in the emphysematous PIZZ subject. Prospects of therapy by gene modification are also reviewed.
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PMID:Alpha 1-antitrypsin deficiency and liver disease: clinical presentation, diagnosis and treatment. 174 15

Eleven (13.8%) children (4-14 months; mean of 7.8 +/- 3.6 months) presenting with protracted diarrhea (duration greater than 21 days) and weight loss had associated infection with Salmonella typhimurium. All had documented weight loss of 16-25% and progressive clinical deterioration. On admission, they had high purging rates (greater than 4 ml/kg/h), hyponatremia (5/11), mucosal injury, and malabsorption as measured by 1 h blood D-xylose, fecal alpha 1-antitrypsin, and oral fat tolerance test. Diarrhea was secretory in 8 of 11 and fecal sodium was high (54-142 mEq/L; mean of 102 +/- 27 mEq/L). The organism showed multiple drug resistance. All patients received antibiotics (amikacin and nalidixic acid/norfloxacin) for 10-14 days, which was followed by rapid improvement in clinical status and absorption studies. The two youngest patients died. Due to ethical reasons, an untreated control group was not included. Use of appropriate antibiotics may benefit children with S. typhimurium-associated severe protracted diarrhea and rapid progressive weight loss.
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PMID:Salmonella typhimurium-associated severe protracted diarrhea in infants and young children. 220 92

Fecal clearance of plasma alpha 1-antitrypsin is used as a measure of protein leakage into the intestinal tract. In this study, the alpha 1-antitrypsin concentration in stool and the plasma clearance of alpha 1-antitrypsin in normal subjects and in a consecutive series of patients with chronic diarrhea, malabsorption, or unexplained hypoalbuminemia was determined. The normal subjects were studied in their usual state and also when they had diarrhea secondary to ingestion of lactulose, sorbitol, sodium sulfate, or phenolphthalein. The study first concluded that induced diarrhea can cause an increase in alpha 1-antitrypsin clearance; if this is not considered in establishing normal values, there may be an overdiagnosis of excess protein leakage in patients with diarrhea. Second, there is a highly significant statistical correlation (P less than 0.001) between alpha 1-antitrypsin clearance and serum albumin concentration. On average, the serum albumin falls below 3.0 g/dL (30 g/L) when the alpha 1-antitrypsin clearance exceeds 180 mL/day, a value that is about threefold higher than the upper limit of normal. Third, three of nine patients with microscopic/collagenous colitis had elevated clearance of alpha 1-antitrypsin; by contrast, abnormal alpha 1-antitrypsin clearance was not found in 23 patients with idiopathic secretory diarrhea. Fourth, fecal alpha 1-antitrypsin concentration is not a reliable index of abnormal alpha 1-antitrypsin clearance.
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PMID:Alpha 1-antitrypsin excretion in stool in normal subjects and in patients with gastrointestinal disorders. 221 Feb 45

Chronic diarrhoea is frequent in acquired immune deficiency syndrome (AIDS) but has been poorly investigated so far. We report four patients with AIDS in whom diarrhoea and malabsorption were outstanding features, and who underwent extensive digestive investigations. Diarrhoea was a presenting symptom in all subjects and was of secretory type in three of them. D-xylose and vitamin B12 were malabsorbed in all cases; steatorrhea was found in the two patients who could ingest significant amounts of fat. Faecal alpha 1-antitrypsin clearance was increased in all subjects. Search for digestive pathogens showed unusual protozoans in all patients: in case 1, optical and electron microscopy revealed the presence in the cytoplasm of villous enterocytes of Microsporidia protozoans still unreported in AIDS. Stool and jejunal fluid examination showed Isospora belli in case 2 and Cryptosporidium in cases 3 and 4. On histological and ultrastructural study the former was localised in the cytoplasm of a few enterocytes and the latter was scattered throughout the villus and crypt brush border. Otherwise small intestinal histology only showed minor non-specific changes and the enterocytes were ultrastructurally normal. In patient 3 the slow marker intestinal perfusion technique showed a profuse fluid secretion in the duodenum and proximal jejunum. All patients needed prolonged total parenteral nutrition. Cryptosporidium and Microsporidia could not be eradicated despite multiple drug trials. Isospora belli was transiently cured by pyrimethamine-sulphadiazine. Only patient 2 is presently at home, and patients 1, 3, and 4 died after two, six, and nine months of total parenteral nutrition, respectively.
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PMID:Diarrhoea and malabsorption in acquired immune deficiency syndrome: a study of four cases with special emphasis on opportunistic protozoan infestations. 403 92

Endogenous steatorrhea has only been evaluated in patients with non-pathological digestive tract. We decided, therefore, to study this parameter in 22 consecutive patients submitted to total parenteral nutrition for severe gastrointestinal diseases. The determination of steatorrhea, creatorrhea, and fecal clearance of alpha 1-antitrypsin was performed by three days stool collections. After 10 days of parenteral nutrition, 13 of the 22 patients still had measurable stool losses and 106 fecal collections were done. In these 13 patients, fecal weight was 610 +/- 130 g.d-1, (mean +/- SEM), steatorrhea was: 3.1 +/- 0.4 g.d-1, creatorrhea was: 1.7 +/- 0.6 g.d-1, alpha 1-antitrypsin clearance was: 58 +/- 13 ml.d-1 (N less than 10 ml.d-1). The mean endogenous steatorrhea was therefore 5 fold larger than normal and creatorrhea 1.8 fold larger than normal. This discrepancy could be due to metabolism of nutrients by colonic bacterial flora. The comparison of patients with and without increased endogenous losses showed significant differences in the mean number of intestinal lesions (1.4 +/- 0.3 versus 0.5 +/- 0.2) and in the presence or absence of ileal involvement (p less than 0.05). A positive correlation was found between steatorrhea and stool weight but not between steatorrhea and creatorrhea or fecal clearance of alpha 1-antitrypsin. This first study of pathological endogenous steatorrhea does not suggest a relationship of this parameter with protein losing enteropathy. The main contribution to increased endogenous losses may be related to increased epithelial cell renewal of the intestine associated with malabsorption. The role of bacterial overgrowth in the gut cannot be ruled out by the present data.
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PMID:[Endogenous steatorrhea during total parenteral nutrition. Study of 22 patients with gastrointestinal diseases]. 642 Feb 23

Lipid accumulation has been described in the duodenal lamina propria of human immunodeficiency virus (HIV)-infected patients with diarrhea and malabsorption. Using light and electron microscopy, we studied duodenal biopsies obtained from 54 consecutive HIV-infected patients by means of upper gastrointestinal endoscopy after an overnight fast. The presence of diarrhea and weight loss were recorded, and all the patients had standard stool study for ova, parasites, and bacteria. Serum levels of albumin, triglycerides, and cholesterol were obtained within one week of the endoscopy. Fecal fat and fecal alpha 1-antitrypsin clearance were measured in 11 patients. Lipid accumulation was observed in nine patients (16.6%). Fat droplets were seen in enterocytes, in their basolateral membrane spaces, and in the lamina propria. The mean serum levels of triglycerides (1.85 +/- 0.20 mmol/liter) and cholesterol (2.81 +/- 0.30 mmol/liter) were significantly lower in the patients with enteric steatosis than in patients without this anomaly (respectively, 3.38 +/- 0.39 and 3.97 +/- 0.18 mmol/liter, P < 0.001 P < 0.01). The mean amount of fecal fat in the three patients with lipid accumulation (16 +/- 1.60 g/24 hr) was significantly larger than in the eight patients without lipid accumulation (4.50 +/- 0.62 g/24 hr, P < 0.01). These findings suggest that fat malabsorption in HIV-infected individuals is due to a blockage of transport through the duodenal mucosa. The frequency of diarrhea, weight loss, or identified enteric pathogens did not differ significantly between patients with and without enteric steatosis. Both the etiology and the pathophysiology of these alterations remain to be documented.
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PMID:Association of lipid accumulation in small intestinal mucosa with decreased serum triglyceride and cholesterol levels in AIDS. 792 37

Content of IgA, IgG, IgM, C3 and C4 components of complement, properdin factor B, acid glycoprotein, alpha 1-antitrypsin, transferrin and ceruloplasmin were studied using immunochemical procedures in blood serum, gastric and duodenal contents of healthy persons and of patients after stomach resection. In patients with symptoms of malabsorption concentration of IgA and IgG was drastically increased in gastric and duodenal contents by 51% and 188%, respectively, and by 53% and 371%, respectively. Local activation of the complement system was also observed, which involved an increase of C3 component in stomach and small intestine by 122% and 31%, respectively. As a result of postoperative anastomositis content of albumin and the properdin factor B was distinctly increased in the duodenum. The data obtained suggest that studies of various functional proteins in gastric and duodenal contents are recommended for evaluation of a disease genesis as well as for diagnosis of acute local inflammation.
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PMID:[The local humoral immune system in patients with malabsorption syndrome]. 816 Apr 29

Four infants with conjugated hyperbilirubinemia who were brought for treatment primarily because of a hemorrhage are reported. Underlying disorders included extrahepatic biliary atresia, choledochal cysts, and alpha 1-antitrypsin deficiency. Prodromal signs of disturbed coagulation and diminished bile excretion were not recognized. The increased bleeding tendency was probably caused by vitamin K deficiency, resulting from a combination of cholestasis-induced fat malabsorption, absence of vitamin K supplementation after birth, and low vitamin K intake as a result of breast feeding.
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PMID:Bleeding as presenting symptom of cholestasis. 841 Mar 91


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