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)

Obstructive jaundice, pruritus, and malabsorption developed in twin brothers in infancy. Early liver biopsy specimens showed intracellular and canalicular cholestasis with normal bile ducts. By the age of 3 years, both had cirrhosis and portal hypertension. Each died during the teen years from hepatocellular carcinoma. These brothers represent the tenth reported family with familial cholestatic cirrhosis, and they are the first patients with this syndrome in whom hepatoma developed.
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PMID:Hepatoma in familial cholestatic cirrhosis of childhood: its occurrence in twin brothers. 21 1

The serum 25-OHCC concentration was measured in 151 patients in order to evaluate the potential use of this determination in the management of gastrointestinal disorders. Patients with functional bowel disease had lower serum mean 25-OHCC levels than normals. The results were divided into normal (greater than 21 ng/ml), low normal (12-21 ng/ml), and low levels (less than 21 ng/ml). Two thirds of patients with malabsorption had low serum 25-OHCC. Most patients following jejunoileal bypass surgery for morbid obesity had low levels despite supplemental oral calciferol therapy. In patients with chronic liver disease, cholestasis more than parenchymal cell disease appeared responsible for low serum 25-OHCC levels. Measurement of serum 25-OHCC may be an ancillary screening test for fat malabsorption and in patients with intraluminal bile salt deficiency. Furthermore, repeated measurements may be useful in monitoring therapy with vitamin D products in patients with chronic malabsorption and cholestasis.
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PMID:Significance of serum level of 25-hydroxycholecalciferol in gastrointestinal disease. 62 77

Rickets and osteopenia, common problems in chronic childhood cholestasis, have been attributed to vitamin D malabsorption leading to reduced serum levels of 25(OH)-vitamin D. d-alpha-Tocopheryl polyethylene glycol-1000 succinate (TPGS), a water-soluble form of vitamin E, forms micelles at low concentration. We evaluated the potential role of TPGS in enhancing vitamin D absorption in eight children (aged 5 mo to 19 y) with severe chronic cholestasis (three extrahepatic biliary atresia, three nonsyndromic intrahepatic cholestasis, and two Alagille syndrome). To evaluate vitamin D absorption, the subjects received vitamin D3 1000 IU/kg (maximum dose of 50,000 IU); they then received the same dose of vitamin D3 mixed with TPGS (25 IU/kg). Serial serum vitamin D3 levels and areas under the curve were measured. All patients had enhanced absorption of vitamin D when it was administered in a mixture with TPGS. Mean area under the curve for serum vitamin D3 was 403.0 +/- 83.1 nmol x h/L (155.6 +/- 32.1 ng x h/mL), with a mean rise above baseline of 13.5 +/- 1.8 nmol/L (5.2 +/- 0.7 ng/mL) with vitamin D/TPGS compared with no rise when vitamin D was given alone (both p less than 0.001). Seven patients have been followed for at least 3 mo while receiving the vitamin D/TPGS combination. Those with initially low serum 25(OH)-vitamin D levels (less than 37.5 nmol/L or 15 ng/mL) had normalization (range 37.5-146 nmol/L) within 1 mo, whereas those with initially normal levels remained normal. While the patients were receiving vitamin D/TPGS, serum vitamin E to total lipid ratio either normalized or remained normal.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:d-Alpha-tocopheryl polyethylene glycol-1000 succinate enhances the absorption of vitamin D in chronic cholestatic liver disease of infancy and childhood. 154 43

The pathologic changes associated with human cryptosporidiosis have not been well characterized. In this report, 15 cases of cryptosporidiosis in acquired immunodeficiency syndrome patients are described. Organisms were found in autopsy tissue specimens in 13 cases, and only in antemortem stool samples in two. Gastrointestinal/hepatobiliary distribution of organisms was as follows: small intestine (13 cases), extrahepatic bile ducts (eight), intrahepatic bile ducts (seven), large intestine (six), pancreas (five), stomach (three), and esophagus (one). At all sites, infection was usually associated with nonspecific reactive epithelial changes, architectural abnormalities such as villous flattening in the small intestine, and interstitial edema with mixed inflammatory cell infiltrates. Presence of organisms and associated mucosal injury were patchy and of variable severity in the intestine. In the biliary tract, injury was commonly diffuse and severe. Pancreatic duct injury was generally mild and often limited to hyperplastic squamous metaplasia. In late-stage acquired immunodeficiency syndrome patients with cryptosporidiosis, widespread infection in the gastrointestinal and biliary systems by this coccidian was more common and severe than previously suggested. Although the mechanisms have yet to be determined, infection usually is accompanied by pathologic changes that may be causally related to pathophysiologic abnormalities, such as diarrhea and malabsorption, and may account for other clinical manifestations of pancreatitis, cholangitis, and obstructive cholestasis.
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PMID:Cryptosporidiosis in the acquired immunodeficiency syndrome: a study of 15 autopsy cases. 174 28

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

The essential effects of Tocopherol are based on its antioxidative capacity. Tocopherol, however, is just one in a group of antioxidants, which are important for the organism. Established indication for therapeutical application of vitamin E in infancy is only vitamin-E-malabsorption in connection with chronic cholestasis, pancreatic insufficiency (cystic fibrosis) and short bowel syndrome. In emergency therapy vitamin E is suggested with high dosage in case of shock lung and haemolytic-uraemic syndrome. Positive effects of daily vitamin E application in connection with prophylaxis of retinopathy prematurity, bronchopulmonary dysplasia and intraventricular encephalorrhagia of premature infants of severe underweight are not established. Very questionable therapeutic or prophylactic efficiency is opposed to the risk of higher incidence of severe complications in caring for premature infants of severe underweight, such as enterocolitis necroticans and neonatal septicaemia.
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PMID:[The use of vitamin E in childhood]. 209 6

The possibility of malabsorption of triglycerides contained in the diets of children with cholestasis suggests a deficiency of essential fatty acids and, therefore, probable effects on eicosanoid metabolism. Children with either biliary atresia (BA) or syndromatic paucity of interlobular bile ducts (PILBD) were evaluated as to plasma and platelet total lipid fatty acid composition and synthesis of prostaglandins (PG) E1, PGE2, PGI2, PGF2, and thromboxane (TXB2) by whole blood incubated at 37 degrees C for 10 min. In both diseases linoleate deficiency was present as shown by low 18:2 fatty acids in plasma lipids. The children with BA had lower plasma arachidonate than controls but normal eicosanoid synthesis except for excess PGI2. Those with PILBD had low platelet arachidonate and were severely deficient in TXB2 synthesis (less than 10% of controls). Three children with PILBD were fed a supplement of structured triglyceride (Captex 810) intended to provide as much as 10% of energy as linoleate for 2-3 months. Results for these three cases suggested that insufficient linoleate was absorbed to increase plasma linoleate and differences in eicosanoids could not be attributed to linoleate supplementation.
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PMID:Eicosanoid synthesis in children with cholestatic disease. 211 52

Over the past decade it has become apparent that vitamin E is an essential nutrient for maintaining the structural and functional integrity of the developing human nervous system, skeletal muscle, and the retina. The clinical and histologic resemblance of the human neuromuscular disorder associated with chronic fat and vitamin E malabsorption to that observed in experimental vitamin E-deficient animal models is striking. Because of chronic malabsorption of vitamin E, children with CF, chronic cholestasis, abetalipoproteinemia, and short bowel syndrome are at risk for the development of neurologic deficits caused by vitamin E deficiency. Correction of the vitamin E deficiency state prevents, reverses, or, at least, stabilizes the neurologic dysfunction in susceptible individuals. Advances in stable isotope technology permit study of the hepatic discrimination among the various stereoisomers and forms of vitamin E. Investigations into the cause of the primary form of vitamin E deficiency, the isolated vitamin E deficiency syndrome, promise to delineate the normal physiologic processes involved in absorption, transport, and tissue delivery of vitamin E. Studies in progress are addressing the optimal route and form of vitamin E therapy to be used in each predisposing condition. One major task remaining is to better define the mechanism by which vitamin E deficiency leads to neurologic injury.
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PMID:Vitamin E and neurologic deficits. 217 58

The prevalence, type, and factors that may influence the development of bone disease in primary biliary cirrhosis, have been investigated in 20 consecutive patients, who, in addition to liver function tests and mineral and vitamin D metabolism studies, were submitted to a transiliac bone biopsy after tetracycline double-labeling for quantitative histomorphometric examination. Intestinal calcium absorption was also assessed in 16 patients. Seven patients (35%) had reduced bone volume and were considered osteoporotic. Three also had bone mineralization impairment, but did not have criteria for osteomalacia. Bone formation was depressed in 15 patients, and bone resorption was low or normal in 19 cases. Eroded surfaces were reduced in all osteoporotic patients. Duration of primary biliary cirrhosis was significantly longer in patients with osteoporosis (6.3 +/- 0.6 yr) than in those without osteoporosis (2.6 +/- 0.6, p = 0.004). Moreover, osteoporosis was more prevalent in postmenopausal women, and in those who had intestinal calcium malabsorption, which was present in 80% of osteoporotic patients but in only 18% of nonosteoporotic patients (p = 0.03). Osteoporosis and mineralization bone impairment were unrelated to the severity of cholestasis. 25-Hydroxyvitamin D was significantly lower in those patients with intestinal calcium malabsorption. The results of this study indicate that osteodystrophy in primary biliary cirrhosis is characterized mainly by "low-turnover" osteoporosis, which is related to the duration of the liver disease, postmenopausal condition, and calcium malabsorption.
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PMID:Factors influencing the development of metabolic bone disease in primary biliary cirrhosis. 222 Jul 29

The diagnosis of malrotation is easily made in the neonatal period, but is often delayed in older patients. Among 82 patients treated for malrotation in this institution, 45 patients presented with symptoms related to their malrotation, seven were diagnosed at exploration for concomitant intrinsic duodenal obstruction, and 30 patients had malrotations discovered as incidental findings at laparotomy or autopsy. Among the 45 symptomatic patients, 25 (56%) underwent surgery in the first month of life, whereas 20 patients (44%) underwent surgery at an older age. In this last group, the mean age at surgery was 51.5 months (range, 2 months to 16 years), the mean age of onset of symptoms was 2 years (range, 0 to 15 years) and the mean delay in diagnosis was 1.7 years. Although bilious vomiting was the presenting symptom among all patients undergoing surgery in the neonatal period, clinical features of older patients included intestinal obstruction (7), chronic abdominal pain (4), malabsorption/diarrhea (3), peritonitis/septic shock (2), solid food intolerance (1), common bile duct obstruction (1), abdominal distention (1), and delayed transit postappendectomy (1). The frequency of midgut volvulus was equal among both groups. Unusual forms of malrotation were more frequent in patients undergoing surgery beyond the neonatal period. In this group there was evidence of chronic venous and lymphatic obstruction with one case of superior mesenteric vein thrombosis and two cases of intestinal gangrene. A Ladd's procedure was performed in all cases and the most frequent postoperative complication was adhesive intestinal obstruction. There were no deaths. Awareness of the unusual presentation in patients who present beyond the neonatal period may help reduce delays in diagnosis and surgical treatment. We believe that laparotomy is indicated in all patients with malrotation, even if they are asymptomatic.
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PMID:Malrotation presenting beyond the neonatal period. 227 27


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