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)

A male born to first cousins presented at 12 months with hypocalcemic convulsions, rickets, epistaxis due to vitamin K deficiency, and extremely low serum levels of beta-carotene and vitamin A. Liver function was altered moderately (glutamic-oxaloacetic transaminase, 55 U/L; glutamic-pyruvic transaminase, 37 U/L; lactate dehydrogenase, 255 U/L; alkaline phosphatase, 437 U/L). To correct the deficiencies, 8,000 IU vitamin D/day, 10,000 IU vitamin A/day, and intramuscular administration of vitamin K1 were required. At 9 years, he presented signs of neuromuscular affection, and the serum vitamin E level (measured for the first time) was extremely low. Classic lipid malabsorption syndromes (abetalipoproteinemia, chronic cholestasis, mucoviscidosis, coeliac disease, Whipple's disease) were excluded by appropriate examinations. Composition of duodenal bile acids was characterized by undetectable levels of cholic acid metabolites, and only chenodeoxycholic acid metabolites were present. Serum total bile acid concentration was normal, with an atypical low cholic acid/chenodeoxycholic acid ratio and abnormal presence of 3 beta-OH-delta 5-cholenic acid and 6-OH-bile acids. Urinary bile acid composition was also characterized by elevated 6-OH-bile acids. Known enzymopathies of the bile acid synthetic pathway were excluded (cerebrotendinous xanthomatosis, cerebro-hepato-renal syndrome of Zellweger, coprostanic acidemia). Bile acid pool sizes were determined by using stable isotopes: cholic acid pool size [2.90 (N, 32 +/- 16) microM/kg] and chenodeoxycholic acid pool size [10.8 (N, 32.6 +/- 9.9) microM/kg] were extremely low; fractional turnover rates of both bile acids were in a normal range.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Malabsorption of liposoluble vitamins in a child with bile acid deficiency. 379 31

A survey is given of the morphological and biochemical lesions of the small intestine that can be found in cystic fibrosis patients. The available data on the structure and function of the small intestine in CF patients favour the hypothesis that the small intestine itself might contribute to the malabsorption of nutrients in this disease. The most pronounced lesions, i.e. meconium ileus and absent active transport of bile salts are found in the ileum. It might be remembered that the ileum is also the site of intensive exchange of chloride and bicarbonate, a function that is heavily disturbed in the pancreas of CF patients. For this reason, further studies on the ileal function in cystic fibrosis are warranted.
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PMID:The role of the small intestine in cystic fibrosis patients. 386 57

A 25-yr-old black man with cystic fibrosis and cirrhosis developed symptoms of osteomalacia and hypocalcemia, hypophosphatemia, secondary hyperparathyroidism, and low circulating 25-hydroxyvitamin D (25-OHD). Serum 1,25-dihydroxyvitamin D (1,25-[OH]2D) was within the normal range. Iliac crest bone biopsy confirmed the diagnosis of osteomalacia. Oral administration of 50,000 IU of vitamin D2 failed to relieve symptoms or raise serum 25-OHD levels to normal. Intramuscular vitamin D2, 10,000 IU every 8-12 week, improved symptoms, raised serum 25-OHD to normal, and increased circulating 1,25-[OH]2D to values five times normal. Over the next 10 mo circulating 1,25-[OH]2D remained elevated despite normalization of serum calcium, phosphorus, and parathyroid hormone. Repeat bone biopsy 1 yr after parenteral vitamin D showed healing of the osteomalacia. Malabsorption of vitamin D appears secondary to profound steatorrhea due to pancreatic insufficiency and secondary biliary cirrhosis. Although extensive hepatocellular disease was present, hepatic conversion of vitamin D to 25-OHD was intact. Both high and low circulating 1,25-[OH]2D levels during active osteomalacia have been reported; initially, the level was in the normal range and higher values in this patient occurred with repletion of 25-OHD substrate. This study shows that symptomatic osteomalacia may be a major manifestation of cystic fibrosis in those patients surviving into adulthood. Measurements of serum 25-OHD in cystic fibrosis patients may identify those who should receive supplemental vitamin D.
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PMID:Vitamin D metabolism and osteomalacia in cystic fibrosis. 387 14

We evaluated the bentiromide test by analyzing para-aminobenzoic acid (PABA) in plasma and urine (a) for the identification of patients with complete pancreatic insufficiency and (b) as an alternative to the secretin-cholecystokinin test. Nine control subjects, 18 patients with cystic fibrosis, and 4 patients with Shwachman's syndrome were studied. Based upon the secretin-cholecystokinin test, pancreatic function was judged to be less than 0.1% of normal in 7 patients with cystic fibrosis and malabsorption and between 0.7% and 90% of control values in 11 patients with cystic fibrosis and 4 patients with Shwachman's syndrome without malabsorption. The bentiromide test was performed in two stages: first with bentiromide alone, then with equimolar free PABA. After ingestion of free PABA, the plasma profile and urinary excretion of PABA were comparable in controls, patients with cystic fibrosis, and patients with Shwachman's syndrome. Thirty minutes after oral bentiromide, plasma PABA values in patients with and without malabsorption were significantly lower than in the control group. From 60 to 180 min after ingestion, plasma PABA levels in patients without malabsorption were no different from controls; whereas levels in patients with malabsorption were significantly lower than in controls and in those without malabsorption, reaching the highest significance at 90 min. Similar results were obtained when the urinary excretion of PABA was considered. Only the 90-min plasma test reliably detected cystic fibrosis patients with steatorrhea, however. Duodenal colipase output was highly correlated with both the 90-min plasma test and the urinary excretion of PABA, with similar results for lipase and trypsin output. Reliable detection of pancreatic dysfunction, nevertheless, was not obtained even with the plasma test, in cystic fibrosis patients with greater than 5%-10% of the mean normal enzyme output. In patients with Shwachman's syndrome, none of whom had malabsorption, the plasma and urinary test failed to detect pancreatic dysfunction even with enzyme output as low as 1% of normal.
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PMID:Bentiromide test for assessing pancreatic dysfunction using analysis of para-aminobenzoic acid in plasma and urine. Studies in cystic fibrosis and Shwachman's syndrome. 387 4

Immune complexes have been previously reported in the serum of patients with cystic fibrosis. This study was undertaken to relate the finding of complexes with the clinical features of the disease. Immune complexes detected by the 125I-C1q binding assay were found in the sera of 17/60 (28%) of patients with cystic fibrosis (CF). There was no association between the finding of raised levels of immune complexes and duration of chest symptoms, duration of daily sputum production, age, sex, weight, atopy, the presence or absence of malabsorption, pneumothorax, diabetes, Aspergillus precipitins or specific bacterial pathogens in the sputum. There was however a correlation between the finding of increasing circulating immune complexes and decrease in the respiratory function; forced expiratory volume in 1 sec (P less than 0.001) and forced vital capacity (P less than 0.005); also with weight (P less than 0.02). It is possible that the finding of immune complexes, at low levels, in cystic fibrosis are the result of tissue damage rather than its cause.
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PMID:Circulating immune complexes in patients with cystic fibrosis in relation to clinical features. 387 38

Cystic fibrosis children tend to have a low birth weight and their mean height and weight during childhood is below that for the general population. They also tend to have a delayed bone age and puberty. The degree of underweight correlates more closely with the respiratory condition than with the degree of malabsorption. There is evidence that their nutritional requirements are increased, perhaps up to 150% of the recommended daily allowance, but in later childhood their food intake is frequently low and maybe the major reasons for their poor growth and development. Specific deficiencies of vitamins, minerals and essential fatty acids occasionally present as clinical problems. New approaches to nutrition include increasing dietary fat, which was traditionally low because of malabsorption, and this change has been made possible with the development of modern pancreatic supplements. Supplementary nutrition with elemental diets or intravenous hyperalimentation have given promising results in some studies and might be expected to improve the patient's resistance to infection as well as his nutritional state. The place of oral essential fatty acid supplements is still being evaluated, but intravenous infusions of fat emulsion are not justifiable in themselves.
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PMID:The nutritional state and nutrition. 390 27

The relationship between growth and pulmonary disease has been studied mainly in asthma and cystic fibrosis. In asthma, the most frequent chronic pulmonary disease in childhood, results were conflicting, until the degree of severity of the disease and growth phases were taken into account. Research on 683 children has shown that the percentage of underweight was higher in chronic than intermittent asthma. Moreover, the distribution of underweight patients by ages is different in the two types of asthma: uniform in intermittent asthma; two peaks below the age of 2 and above the age of 12 respectively in chronic asthma. Further data of 65 children treated with slow-releasing theophylline for approximately two years corroborates that puberty is a particularly vulnerable period. Indeed, in the most severe asthmatic males, theophylline is able to completely normalize the growth pattern in childhood but not in puberty. In cystic fibrosis malabsorption makes the study of the relationship between growth and pulmonary disease more complex. The pattern of growth in patients with cystic fibrosis is moving away from the normal pattern with ageing, hence the worsening of pulmonary disease is responsible for the worsening in the growth pattern. The growth pattern today is far better than that of 20 years ago. However, puberty, especially in female patients, is a critical period. Often the puberal spurt is delayed for a few years or is even completely absent. In a group of patients with chronic pulmonary disease due to different causes, weight is more implicated than height and the same pattern was observed in cystic fibrosis. Moreover, as in asthma, weight and height are more implicated in females than males. The entity of alteration observed is midway between the minimal in asthma and the maximal in cystic fibrosis.
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PMID:[Growth and chronic bronchopneumopathies]. 391 44

A well-defined degenerative neurological condition has been associated with cholestatic liver disease in children. This syndrome, heralded by gait and limb ataxia, areflexia, and proprioceptive and vibratory sensory loss, has also been observed in abetalipoproteinemia (Bassen-Kornzweig syndrome), cystic fibrosis, and intestinal malabsorption states. A significant body of evidence suggests that vitamin E (alpha-tocopherol) deficiency is in large part responsible for this condition. In this article, a patient manifesting this syndrome is reported, and the current status of the vitamin E deficiency state is reviewed.
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PMID:Neurologic complications of vitamin E deficiency: case report and review of the literature. 391 52

Fatty acids were measured by gas chromatography in lipid extracts of plasma and tissues obtained from three categories of 46 patients with cystic fibrosis. Low levels of the major essential fatty acid linoleate were found in plasma total lipids of patients who had malabsorption but not in those without evidence of steatorrhea. Circulating arachidonic acid was only slightly decreased, and the unusual triene reflecting pathologically altered fatty acid metabolism (20:3 omega 9) was generally not detected, nor was the triene/tetraene ratio abnormal except for in two patients. There was no correlation between plasma linoleate and age, clinical severity score, or vitamin E status. Decreased linoleate did correlate with two indices of malabsorption, namely plasma carotene (r = 0.64) and fecal fat excretion (r = 0.76). Our data therefore indicate that the abnormality in linoleate is associated with (secondary to) malabsorption of dietary fat despite pancreatic enzyme replacement therapy and consumption of a regular diet. The frequency of this alteration was determined to be quite high in 40 patients with steatorrhea, 85% of whom showed values below the lower limit of normal for plasma linoleate. It was of interest to find markedly decreased levels of linoleate in adipose tissue, cardiac muscle, and lung and lesser reductions in liver and psoas muscle taken at autopsies. Tissue arachidonic acid percentage was normal, however, and 20:3 omega 9 was rarely present. Thus, the physiological significance of this common abnormality in CF patients with malabsorption remains to be determined.
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PMID:Fatty acid abnormalities in cystic fibrosis. 391 87

The differential passive permeation of polymers of different lengths across the intestinal mucosa has been proposed as a probe to test mucosal integrity under a variety of physiologic and pathologic conditions. Polyethylene glycol (PEG) 400 contains a series of polymers whose pattern of urinary recovery after oral administration has been used to characterize intestinal mucosal function. To extend this method to the low levels of PEG polymers found in the urine of children with diarrhea, we have introduced three methodologic innovations. These alterations involve (1) formulation of a balanced PEG polymer mixture, (2) improved isolation, derivatization, and gas chromatography techniques, and (3) a new quantification of the pattern of PEG urinary recoveries. Urinary recovery of orally administered PEG was assessed in four normal adults, six hospitalized infants without gastrointestinal complains, two infants with prolonged diarrhea and carbohydrate malabsorption, and two children with cystic fibrosis. A parameter characterizing the urinary recovery of PEG, N1/2, which is the theoretical number of subunits in the polymer whose recovery is reduced to 50% of the value of the polymer whose recovery is maximal, gave stable, reproducible, and consistent results in normal adults and infants.
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PMID:Polyethylene glycol polymers of low molecular weight as probes of intestinal permeability. I. Innovations in analysis and quantitation. 395 71


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