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)

Forty-five patients (25 male and 20 female) over 12 years of age with cystic fibrosis have been studied clinically, radiologically and physiologically. Their mean age at the first visit was 17 years; they were followed for a mean period of 4 years and attended at least every six months. The first symptom which developed before the age of five in 42 of the 45 patients was respiratory. Thirty-two of the 45 patients had severe lung disease (Group III) at the start of the study of the seven patients died during the study. Cough and sputum were almost universal, 23 had haemoptyses and eight pneumothoraces. Staphylococcus pyogenes, Haemophilus influenzae and Pseudomonas aeruginosa were the common pathogens isolated from sputum and the increasing prevalence of the latter was again confirmed. Acquisition of the mucoid strain of pseudomonas signified poor prognosis. Established infection was never eradicated. Forty-three patients had evidence of pancreatic insufficiency; in all but one patient the symptoms were mild and five patients abandoned dietary restriction and pancreatin without ill effect. Seven patients had symptoms of partial bowel obstruction (meconium ileus equivalent) but only one required surgical relief. The liver was enlarged in seven patients and the spleen was felt in three. Three patients had diabetes mellitus. The influence of cystic fibrosis on growth and development is reported--the growth spurt is late in the majority but growth failure is not confined to those with severe lung infection or malabsorption and in these circumstances remains unexplained. Mean weight was low in relation to height and puberty was delayed in both sexes.
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PMID:Cystic fibrosis in adolescents and adults. 82 Oct 91

Cystic fibrosis (CF) is caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR). The principal manifestations of CF include increased concentration of Cl- in exocrine gland secretions, pancreatic insufficiency, chronic lung disease, intestinal blockage and malabsorption of fat, and male and female infertility. Insight into the function of CFTR can be gained by correlating its cell-specific expression with the physiology of those cells and with CF pathology. Determination of CFTR messenger RNA in rat tissues by in situ hybridization shows that it is specifically expressed in the ductal cells of the pancreas and the salivary glands. In the intestine, decreasing gradients of expression of the CFTR gene are observed on both the crypt-villus and the proximal-distal axes. This expression is consistent with CFTR being responsible for bidirectional Cl- transport, secretion in the intestinal crypts and reabsorption in the silivary gland ducts, and suggests that in these tissues CFTR functions as a regulated Cl- channel. In the lung, a broad band of hybridization includes the mucosa and submucosa of the bronchi and bronchioles. In the testis, CFTR expression is regulated during the cycle of the seminiferous epithelium. Postmeiotic expression is maximal in the round spermatids of stages VII and VIII, suggesting that CFTR plays a critical role in spermatogenesis and that deficiency of this function contributes to CF male infertility.
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PMID:In vivo cell-specific expression of the cystic fibrosis transmembrane conductance regulator. 171 39

In patients who cannot or will not eat, nutrition can be provided by enteral feeding through a gastrostomy or jejunostomy tube (or a nasogastric tube if use is to be brief). Endoscopic placement of tubes is increasing in popularity. Numerous enteral formulas have been devised to provide complete nutrition in a variety of circumstances, and special formulas are available for patients with malabsorption or hepatic, renal, or lung disease. Mechanical, metabolic, and gastrointestinal complications of enteral feeding are possible, but taking precautions by ordering specific techniques can reduce the risk.
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PMID:Tube feeding. Providing the most nutrition with the least discomfort. 249 51

Prevention of malnutrition, a consequence of elevated energy requirements, increased losses and low caloric intake, is one of the main goals in the treatment of cystic fibrosis. Caloric stool losses, catch-up growth and an elevated energy expenditure, even in the absence of overt lung disease and malabsorption, have led to recommendations for a caloric intake of 120-150% of the recommended daily allowances. A high energy intake with a fat content of at least 40 calorie % and adequate pancreatic supplementation has shown to improve growth and median age of survival. As a rational treatment of the fundamental disturbance in cystic fibrosis, a decrease in chloride permeability across epithelia, is not yet available, treatment should be concentrated on adequate nutritional support in combination with optimal correction of those gastrointestinal abnormalities including faecal bile acid loss, small intestinal abnormalities, pancreatic insufficiency, hormonal abnormalities and disturbances in gastrointestinal motility, which may aggravate maldigestion and malabsorption.
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PMID:Gastrointestinal dysfunction and its effects on nutrition in CF. 270 29

Common variable immunodeficiency (CVI) or hypogammaglobulinemia is a heterogeneous primary immunodeficiency disease in which B cells produce little or no antibody. Since the disease is relatively rare and the spectrum of associated illnesses is broad, patients are given care by a variety of specialists. Thus it has been difficult to determine the incidence of specific complications. In these studies we analyzed 103 consecutively referred CVI patients of age range 3-71 years (average, 29 years) who were followed for a period of 1-13 years (total of 750 patient years). The average serum IgG was 174.4 mg/dl for untreated patients and 301 mg/dl for patients treated with intramuscular immunoglobulin at the time of the first visit. The average IgA was 14.5, and the average IgM was 80.7, with no difference between or after immunoglobulin treatment. About one-half of the patients had T-cell dysfunction, but lymphocyte stimulation responses were inversely related to age, which implies worsened T-cell immunity with age. Serum IgG and IgA levels were found to be statistically associated (P = 0.008), and serum IgG was related to lymphocyte stimulation with concanavalin A (P = 0.01). By 1986, 79 patients were alive, 23 had died, and 1 could not be located. Recurrent bacterial illnesses were common to all patients, and 22% had developed chronic lung disease, 22% autoimmune disease, 15% cancer, 13% hepatitis, and 9% malabsorption. Autoimmune disease was more common in females, and cancer was more likely to develop in the fifth and sixth decades. In 11% of the group, other family members were found to be immunodeficient (hypogammaglobulinemic or IgA deficient). Nine patients died of respiratory insufficiency (with or without other complications), and seven patients died of cancer. These data provide valuable information about the immunologic abnormalities and the spectrum and frequency of illnesses associated with hypogammaglobulinemia.
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PMID:Clinical and immunologic analyses of 103 patients with common variable immunodeficiency. 278 95

A high energy intake, compensating for malabsorption, and the energy cost of lung disease, lung infections, and the underlying metabolic abnormality, is required to ensure normal growth in patients with cystic fibrosis. This goal can be readily achieved by adherence to a high quantity, normally balanced diet (with 40% of the energy as triglycerides of long-chain fatty acids). In contrast, this goal cannot be reached in the majority of patients adhering to low-fat and thus low-energy-containing diets, which almost inevitably lead to malnutrition with wasting and stunting. The prevention of malnutrition may well have considerably enhanced the prognosis of patients at one clinic. Further work is needed to define the interrelationship of nutrition and lung disease, and to define the appropriate nutrient requirements induced by the lung disease per se, recurrent infections, and the underlying disease process.
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PMID:The impact of nutrition in cystic fibrosis: a review. 304 37

Three hundred and sixteen patients with cystic fibrosis were seen at the Brompton Hospital during 1965-83; 178 (56.3%) of them were male and 136 female, and their ages ranged from 12 to 51 years. Most patients presented in infancy with respiratory symptoms and malabsorption, but 19 (6%) were diagnosed in adult life, three in their 30s. Pulmonary disease was almost universal (99.7%), being responsible for 97% of all deaths and three quarters of hospital admissions. All patients had developed a productive cough by the age of 21 and over half before the age of 5. Many complained of wheezing, but reversible airflow obstruction was present in only 40% of those tested. Minor haemoptysis was very common (62%), but major episodes less so (10%). Pneumothorax was seen in 61 cases (19%), and was often recurrent. Some irreversible airflow obstruction was present in all patients with pulmonary disease. Two patients have been followed for over 20 years without showing appreciable decline in lung function. Thirty five patients (11%) had no symptoms of malabsorption. Acute meconium ileus equivalent was seen in 16% and a chronic partial obstruction with episodic symptoms in a further 19%. Diabetes mellitus developed in 36 patients, 13 of whom were insulin dependent. Hepatomegaly was common (29%), often occurring without abnormal results in biochemical tests of liver function; only 1% of patients developed portal hypertension with varices and ascites. Skin reactions to at least one common allergen, including Aspergillus fumigatus, were positive in 70%, but very few patients suffered from hay fever or eczema. One hundred and twenty one patients have died, 97% from infection or other pulmonary complications, and 195 were alive in December 1983 (mean age 23 years). Seventy eight per cent of patients were in full time education or full or part time employment, or were housewives, and only 41 were unemployed for reasons for health. Many patients are married and 10 women have borne children. Most patients were admitted to hospital only three or four times during the period of follow up and 50 individuals (16%) have never been in hospital at all. The improvement in prognosis and quality of life for adults with cystic fibrosis should encourage a positive attitude in those who care for them.
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PMID:Cystic fibrosis in adolescents and adults. 343 96

CF patients with normal fat absorption, as a group, have lower mean sweat chloride levels, maintain better pulmonary function and weight for their age, and appear to survive longer than CF patients with steatorrhea. The prognostic advantage for CF males in general is not seen in the pulmonary function data for patients with normal fat absorption, but may be reflected in the smaller number of females in this group. Males in both groups are clearly better at maintaining good weight than are females. Whether this means that nutritional intervention can improve pulmonary course or that other factors (genetic, endocrinological, environmental) dictate nutritional and pulmonary state, as well as sex differences, remains to be shown. Non-steatorrheic patients are far less likely than steatorrheic patients to have Pseudomonas infecting their lungs. This is a significant prognostic advantage since the progressive lung disease and eventual mortality of most CF patients can be charted by their acquisition of P. aeruginosa and the increasing frequency of exacerbation and attempts to eradicate this organism. CF has been called a lethal genetic disease because affected homozygotes did not generally survive to procreate. However, increasing numbers of young women with CF are surviving to an age where pregnancy and child-rearing are options for them. The majority of patients who reach this stage with sufficiently good health to embark on a pregnancy are patients with normal fat absorption. They also appear to be more likely to remain well throughout pregnancy and as young mothers. There is no doubt that CF patients with normal fat absorption have a better prognosis than those with typical CF malabsorption.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Improved prognosis in CF patients with normal fat absorption. 650 98

Increased energy expenditure, poor dietary intake, and fat malabsorption in patients with cystic fibrosis (CF) frequently lead to growth failure and malnutrition, which are associated with pulmonary failure and decreased survival. The study purpose was to understand better the energy expenditure and requirements in the mild pulmonary disease state in children. Resting and total energy expenditure were measured in 6- to 9-yr-old, pancreatic-insufficient children with CF (n = 25) and control children (n = 25) of similar age, gender, and weight. The effect of the most common genotype, homozygous delta F508, on energy expenditure was also investigated. Dietary intake, degree of fat malabsorption, body composition, physical activity, and clinical status were determined. The CF group had a 9% increase in resting energy expenditure, which was not related to genotype or severity of lung disease. Both CF genotype subgroups (delta F508 homozygous and all others) had a similar, modest resting energy expenditure increase. Total energy expenditure was increased by 12% in the entire CF group and by 23% in the delta F508 homozygous CF subgroup compared with controls. The total energy expenditure increase in delta F508 homozygous children may be related to increased voluntary physical activity, reflecting no activity reduction associated with lung disease, or to an unidentified genotype-related mechanism. The clinical implication is that a detailed physical activity assessment should be evaluated along with resting energy expenditure, either measured or estimated by equations, when daily energy needs are being determined for children with CF.
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PMID:Energy expenditure and genotype of children with cystic fibrosis. 751 43

Routine supplementation with multivitamins is recommended for all patients with cystic fibrosis (CF). The purpose of this study was to investigate how well patients at a large CF clinic follow recommendations for taking multivitamins and what factors affect use. A questionnaire was developed and sent to the 150 patients actively followed at our center. Of the 80 patients who returned the survey, only 47% followed clinic recommendations. Of those patients not taking extra supplements, serum vitamin A and E levels varied widely, although most were within the normal range (vitamin A 11-87 micrograms/dL, tocopherol 0.4-2.3 mg/dL, tocopherol/cholesterol 3.0-9.6 mg/g). Only 25% of respondents had known insurance coverage for vitamins. Gender or educational level did not affect adherence; however, those with minimal pulmonary disease (forced vital capacity [FVC] greater than 70% of predicted) were more likely to take vitamins than those with moderate or severe disease (P < .05). In addition to malabsorption, poor adherence should be considered by both CF specialists and primary-care providers as a cause of low serum vitamin A and E levels, especially in patients with moderate to severe lung disease.
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PMID:Preventive care for patients with chronic illness. Multivitamin use in patients with cystic fibrosis. 787 24


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